#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
RBM47	54502	broad.mit.edu	37	4	40434683	40434683	+	Silent	SNP	C	C	T			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr4:40434683C>T	ENST00000381793.2	-	5	1923	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	RBM47_ENST00000514014.1_Silent_p.T471T|RBM47_ENST00000381795.6_Silent_p.T440T|RBM47_ENST00000319592.4_Silent_p.T440T|RBM47_ENST00000515809.1_5'Flank|RBM47_ENST00000295971.7_Silent_p.T509T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	509	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AAGGTGGTGGCGTCGACACAG	0.552																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1318-1320)acG>acA		RNA binding motif protein 47							59.0	64.0	63.0					4																	40434683		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434683C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1527G>A	4.37:g.40434683C>T						RBM47_ENST00000381795.6_Silent_p.T440T|RBM47_ENST00000514014.1_Silent_p.T471T|RBM47_ENST00000381793.2_Silent_p.T509T|RBM47_ENST00000295971.7_Silent_p.T509T	p.T440T			A0AV96	RBM47_HUMAN			5	2029	-			509					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.1320G>A	CCDS43223.1																																																																																				0.552	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		7	132	0	0	0	1	0	7	132				
SUV39H2	79723	broad.mit.edu	37	10	14923614	14923614	+	Silent	SNP	G	G	A			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr10:14923614G>A	ENST00000354919.6	+	2	147	c.147G>A	c.(145-147)gtG>gtA	p.V49V	SUV39H2_ENST00000313519.5_Intron|RP11-398C13.6_ENST00000609399.1_lincRNA|SUV39H2_ENST00000378325.3_Silent_p.V49V	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	49	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.V49V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ATTATGAGGTGGAATACTTGT	0.353																																						ENST00000378325.3																			1	Substitution - coding silent(1)	p.V49V(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(145-147)gtG>gtA		suppressor of variegation 3-9 homolog 2 (Drosophila)							174.0	165.0	168.0					10																	14923614		876	1991	2867	SO:0001819	synonymous_variant	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14923614G>A	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.147G>A	10.37:g.14923614G>A						SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Silent_p.V49V	p.V49V	NM_001193426.1|NM_001193427.1	NP_001180355.1|NP_001180356.1	Q9H5I1	SUV92_HUMAN			2	173	+			49			Chromo.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Silent	SNP	ENST00000354919.6	37	c.147G>A	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	G	8.964	0.971313	0.18736	.	.	ENSG00000152455	ENST00000358298	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8025	0.57594	0.0738:0.0:0.9262:0.0	.	.	.	.	X	39	.	.	W	+	2	0	SUV39H2	14963620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.908000	0.63307	2.868000	0.98415	0.555000	0.69702	TGG		0.353	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		31	74	0	0	0	1	0	31	74				
DNAH7	56171	broad.mit.edu	37	2	196746684	196746684	+	Silent	SNP	T	T	C			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr2:196746684T>C	ENST00000312428.6	-	36	5896	c.5796A>G	c.(5794-5796)aaA>aaG	p.K1932K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1932					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTCTTTCAATTTCTTTATCC	0.338																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(5794-5796)aaA>aaG		dynein, axonemal, heavy chain 7							104.0	98.0	100.0					2																	196746684		1824	4075	5899	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196746684T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5796A>G	2.37:g.196746684T>C							p.K1932K	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			36	5896	-			1932					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.5796A>G	CCDS42794.1																																																																																				0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	28	0	0	0	1	0	12	28				
CROCCP2	84809	broad.mit.edu	37	1	16956534	16956534	+	lincRNA	SNP	C	C	T	rs572780641	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr1:16956534C>T	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GACGGCGCCACGCAGGTGTTC	0.602													.|||	124	0.0247604	0.0106	0.0447	5008	,	,		57354	0.0		0.0567	False		,,,				2504	0.0225					ENST00000412962.1																			0																																																			0							g.chr1:16956534C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956534C>T														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.602	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		7	51	0	0	0	1	0	7	51				
CENPF	1063	broad.mit.edu	37	1	214832258	214832258	+	Silent	SNP	C	C	A	rs545308395	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr1:214832258C>A	ENST00000366955.3	+	19	9196	c.9028C>A	c.(9028-9030)Cgg>Agg	p.R3010R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3106	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CATGGCAACTCGGACCAGCCC	0.522											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(9028-9030)Cgg>Agg		centromere protein F, 350/400kDa							120.0	123.0	122.0					1																	214832258		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214832258C>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.9028C>A	1.37:g.214832258C>A			OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2224		p.R3010R	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	19	9196	+			3106			Sufficient for centromere localization.|Sufficient for nuclear localization.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.9028C>A	CCDS31023.1																																																																																				0.522	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		4	132	1	0	0.184627	1	0.184627	4	132				
ZNF479	90827	broad.mit.edu	37	7	57187780	57187780	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:57187780A>C	ENST00000331162.4	-	5	1612	c.1342T>G	c.(1342-1344)Tta>Gta	p.L448V		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GTTGAGGATAAGCTAAAGGCT	0.438																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1342-1344)Tta>Gta		zinc finger protein 479							47.0	46.0	47.0					7																	57187780		2007	4179	6186	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187780A>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1342T>G	7.37:g.57187780A>C	ENSP00000333776:p.Leu448Val						p.L448V	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1612	-			448						Missense_Mutation	SNP	ENST00000331162.4	37	c.1342T>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	0.018	-1.480212	0.01027	.	.	ENSG00000185177	ENST00000331162	T	0.08282	3.11	0.955	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03695	0.0105	N	0.21142	0.635	0.09310	N	1	B	0.29716	0.255	B	0.22152	0.038	T	0.44345	-0.9334	9	0.15952	T	0.53	.	2.0227	0.03513	0.2806:0.0:0.4296:0.2898	.	448	Q96JC4	ZN479_HUMAN	V	448	ENSP00000333776:L448V	ENSP00000333776:L448V	L	-	1	2	ZNF479	57191722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.455000	0.00011	-0.495000	0.06659	-0.505000	0.04504	TTA		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		4	64	0	0	0	1	0	4	64				
SDS	10993	broad.mit.edu	37	12	113835178	113835178	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr12:113835178C>T	ENST00000257549.4	-	6	567	c.445G>A	c.(445-447)Gtg>Atg	p.V149M		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	149					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	AGCTCTTTCACGATGGAAGCG	0.657																																						ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(445-447)Gtg>Atg		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						49.0	49.0	49.0					12																	113835178		2203	4300	6503	SO:0001583	missense	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113835178C>T	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.445G>A	12.37:g.113835178C>T	ENSP00000257549:p.Val149Met						p.V149M	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			6	567	-			149					A8K9P5	Missense_Mutation	SNP	ENST00000257549.4	37	c.445G>A	CCDS9169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.07|10.07	1.250000|1.250000	0.22880|0.22880	.|.	.|.	ENSG00000135094|ENSG00000135094	ENST00000552280|ENST00000257549;ENST00000446302	D|D	0.96856|0.96774	-4.15|-4.12	4.45|4.45	3.57|3.57	0.40892|0.40892	.|Pyridoxal phosphate-dependent enzyme, beta subunit (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97126|0.97126	0.9061|0.9061	M|M	0.65498|0.65498	2.005|2.005	0.50313|0.50313	D|D	0.999869|0.999869	.|D;P	.|0.71674	.|0.998;0.867	.|D;P	.|0.64687	.|0.928;0.484	D|D	0.97086|0.97086	0.9787|0.9787	7|10	0.51188|0.72032	T|D	0.08|0.01	-30.9126|-30.9126	12.3549|12.3549	0.55169|0.55169	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	.|149;149	.|Q8WW81;P20132	.|.;SDHL_HUMAN	H|M	58|149	ENSP00000449833:R58H|ENSP00000257549:V149M	ENSP00000449833:R58H|ENSP00000257549:V149M	R|V	-|-	2|1	0|0	SDS|SDS	112319561|112319561	0.954000|0.954000	0.32549|0.32549	0.993000|0.993000	0.49108|0.49108	0.673000|0.673000	0.39480|0.39480	2.443000|2.443000	0.44881|0.44881	1.102000|1.102000	0.41551|0.41551	-0.254000|-0.254000	0.11334|0.11334	CGT|GTG		0.657	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		29	65	0	0	0	1	0	29	65				
POM121L12	285877	broad.mit.edu	37	7	53103868	53103868	+	Missense_Mutation	SNP	G	G	T	rs193120562	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:53103868G>T	ENST00000408890.4	+	1	520	c.504G>T	c.(502-504)gaG>gaT	p.E168D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	168										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ccgcccAGGAGCTCCTGGACC	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(502-504)gaG>gaT		POM121 transmembrane nucleoporin-like 12							13.0	17.0	16.0					7																	53103868		1840	4049	5889	SO:0001583	missense	285877							g.chr7:53103868G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.504G>T	7.37:g.53103868G>T	ENSP00000386133:p.Glu168Asp						p.E168D	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	520	+			168					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.504G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731315	0.30684	.	.	ENSG00000221900	ENST00000408890	T	0.24538	1.85	2.35	-1.91	0.07641	.	.	.	.	.	T	0.15912	0.0383	L	0.34521	1.04	0.09310	N	1	B	0.31383	0.321	B	0.32583	0.148	T	0.24190	-1.0167	9	0.41790	T	0.15	.	3.8668	0.09019	0.2667:0.3966:0.3367:0.0	.	168	Q8N7R1	P1L12_HUMAN	D	168	ENSP00000386133:E168D	ENSP00000386133:E168D	E	+	3	2	POM121L12	53071362	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.684000	0.05173	-0.529000	0.06358	-1.285000	0.01374	GAG		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		14	25	1	0	4.3838e-07	1	4.7345e-07	14	25				
RBM12B	389677	broad.mit.edu	37	8	94747845	94747845	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr8:94747845C>T	ENST00000399300.2	-	3	1007	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R265Q	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	265							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGACCGTTTTCGAAAATGTCT	0.403																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(793-795)cGa>cAa		RNA binding motif protein 12B							113.0	104.0	107.0					8																	94747845		1847	4094	5941	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747845C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.794G>A	8.37:g.94747845C>T	ENSP00000382239:p.Arg265Gln					RBM12B_ENST00000517700.1_Missense_Mutation_p.R265Q|RBM12B_ENST00000520961.1_Intron	p.R265Q	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1007	-	Breast(36;4.14e-07)		265					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.794G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884708	0.51908	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.09538	2.97;3.02	5.36	4.25	0.50352	.	0.332186	0.25166	N	0.032638	T	0.05502	0.0145	N	0.14661	0.345	0.33228	D	0.555574	B	0.24721	0.11	B	0.11329	0.006	T	0.06023	-1.0850	10	0.56958	D	0.05	-5.8131	4.4512	0.11621	0.0:0.7125:0.0:0.2875	.	265	Q8IXT5	RB12B_HUMAN	Q	265	ENSP00000382239:R265Q;ENSP00000427729:R265Q	ENSP00000382239:R265Q	R	-	2	0	RBM12B	94817021	0.142000	0.22610	1.000000	0.80357	0.980000	0.70556	0.661000	0.25023	2.672000	0.90937	0.591000	0.81541	CGA		0.403	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		27	46	0	0	0	1	0	27	46				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	62	0	0	0	1	0	4	62				
TGOLN2	10618	broad.mit.edu	37	2	85554340	85554340	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr2:85554340G>A	ENST00000409232.3	-	2	576	c.515C>T	c.(514-516)gCg>gTg	p.A172V	TGOLN2_ENST00000377386.3_Missense_Mutation_p.A172V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.A172V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A172V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A74V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A172V			O43493	TGON2_HUMAN	trans-golgi network protein 2	172	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)											TGTGGTCTGCGCCTCCGAACC	0.597																																						ENST00000377386.3																			0											c.(514-516)gCg>gTg		trans-golgi network protein 2							306.0	310.0	309.0					2																	85554340		1957	4143	6100	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554340G>A	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.515C>T	2.37:g.85554340G>A	ENSP00000386443:p.Ala172Val					TGOLN2_ENST00000444342.2_Missense_Mutation_p.A172V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A74V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A172V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A172V|TGOLN2_ENST00000409232.3_Missense_Mutation_p.A172V	p.A172V			O43493	TGON2_HUMAN			2	977	-			172			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.515C>T	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	8.638	0.895245	0.17613	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.12147	2.86;2.71;2.72;2.86;2.85;2.85	2.82	-5.64	0.02466	.	.	.	.	.	T	0.06142	0.0159	N	0.25647	0.755	0.09310	N	1	P;P;B;P	0.46656	0.882;0.882;0.107;0.882	B;B;B;B	0.30105	0.111;0.111;0.009;0.111	T	0.16335	-1.0406	9	0.51188	T	0.08	-0.0403	8.9636	0.35863	0.112:0.0:0.7146:0.1734	.	172;172;172;172	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	V	172;74;172;172;172;172	ENSP00000366603:A172V;ENSP00000282120:A74V;ENSP00000381312:A172V;ENSP00000386443:A172V;ENSP00000387035:A172V;ENSP00000391190:A172V	ENSP00000282120:A74V	A	-	2	0	TGOLN2	85407851	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.008000	0.12788	-1.663000	0.01481	-0.777000	0.03380	GCG		0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		43	528	0	0	0	1	0	43	528				
FRMD6	122786	broad.mit.edu	37	14	52188751	52188751	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr14:52188751A>G	ENST00000344768.5	+	12	1641	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C	FRMD6_ENST00000553556.1_Missense_Mutation_p.Y124C|FRMD6_ENST00000554167.1_Missense_Mutation_p.Y405C|FRMD6_ENST00000356218.4_Missense_Mutation_p.Y474C|RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000395718.2_Missense_Mutation_p.Y474C			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	482					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ATGTGCATCTACATCACAGAG	0.493																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1420-1422)tAc>tGc		FERM domain containing 6							114.0	107.0	109.0					14																	52188751		2203	4300	6503	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188751A>G	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1445A>G	14.37:g.52188751A>G	ENSP00000343899:p.Tyr482Cys					FRMD6_ENST00000344768.5_Missense_Mutation_p.Y482C|FRMD6_ENST00000554167.1_Missense_Mutation_p.Y405C|FRMD6_ENST00000356218.4_Missense_Mutation_p.Y474C|FRMD6_ENST00000553556.1_Missense_Mutation_p.Y124C	p.Y474C	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			12	1706	+	all_epithelial(31;0.0163)|Breast(41;0.089)		482					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.1421A>G	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711704	0.48517	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555703;ENST00000553556	T;T;T;T	0.76968	-1.06;-1.06;-0.83;-0.64	5.65	2.0	0.26442	.	0.185103	0.48767	N	0.000171	T	0.60983	0.2311	N	0.08118	0	0.39700	D	0.971168	D;P;P	0.54964	0.969;0.947;0.948	P;B;P	0.49502	0.613;0.339;0.54	T	0.58411	-0.7641	10	0.39692	T	0.17	.	5.9224	0.19091	0.7412:0.0:0.1358:0.1231	.	405;482;474	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	C	474;474;482;405;122;124	ENSP00000348550:Y474C;ENSP00000379068:Y474C;ENSP00000343899:Y482C;ENSP00000451977:Y405C	ENSP00000343899:Y482C	Y	+	2	0	FRMD6	51258501	1.000000	0.71417	0.623000	0.29173	0.572000	0.35998	5.715000	0.68430	0.159000	0.19401	-1.175000	0.01729	TAC		0.493	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		4	54	0	0	0	1	0	4	54				
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000373808.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000394353.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697																																						ENST00000373818.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e1+2		gelsolin							22.0	24.0	23.0					9																	124062285		1599	3598	5197	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124062285T>G	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.144+2T>G	9.37:g.124062285T>G						GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000545652.1_Intron		NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN			1	213	+								A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37		CCDS6828.1																																																																																				0.697	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Intron	9	20	0	0	0	1	0	9	20				
ZCCHC14	23174	broad.mit.edu	37	16	87446746	87446746	+	Silent	SNP	G	G	C			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr16:87446746G>C	ENST00000268616.4	-	11	1465	c.1248C>G	c.(1246-1248)tcC>tcG	p.S416S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	416							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGTACTCCGAGGAACTGCCTT	0.642																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1246-1248)tcC>tcG		zinc finger, CCHC domain containing 14							44.0	41.0	42.0					16																	87446746		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446746G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1248C>G	16.37:g.87446746G>C							p.S416S	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	11	1465	-			416					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.1248C>G	CCDS10961.1																																																																																				0.642	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	18	0	0	0	1	0	4	18				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	157	0	0	0	1	0	7	157				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	24	0	0	0	1	0	3	24				
AKR1C3	8644	broad.mit.edu	37	10	5136713	5136713	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr10:5136713C>A	ENST00000380554.3	+	1	729	c.77C>A	c.(76-78)cCt>cAt	p.P26H	U8_ENST00000459536.1_RNA|AKR1C3_ENST00000470862.2_Intron|AKR1C3_ENST00000439082.2_Intron|AKR1C3_ENST00000605149.1_Intron	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	26					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ACCTATGCACCTCCAGAGGTA	0.418																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(76-78)cCt>cAt		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						217.0	193.0	201.0					10																	5136713		2203	4299	6502	SO:0001583	missense	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5136713C>A	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.77C>A	10.37:g.5136713C>A	ENSP00000369927:p.Pro26His					AKR1C3_ENST00000605149.1_Intron|AKR1C3_ENST00000439082.2_Intron|AKR1C3_ENST00000470862.2_Intron	p.P26H	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN			1	729	+			26					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	ENST00000380554.3	37	c.77C>A	CCDS7063.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432326	0.62844	.	.	ENSG00000196139	ENST00000380554	T	0.24151	1.87	2.18	1.18	0.20946	NADP-dependent oxidoreductase domain (3);	0.270473	0.24657	N	0.036666	T	0.30070	0.0753	N	0.22421	0.69	0.26135	N	0.980369	D;D	0.71674	0.998;0.998	D;D	0.72338	0.977;0.97	T	0.05053	-1.0909	10	0.62326	D	0.03	.	7.6502	0.28344	0.2539:0.7461:0.0:0.0	.	26;26	B4DKT3;P42330	.;AK1C3_HUMAN	H	26	ENSP00000369927:P26H	ENSP00000369927:P26H	P	+	2	0	AKR1C3	5126713	0.080000	0.21391	0.001000	0.08648	0.911000	0.54048	3.820000	0.55693	0.409000	0.25649	0.313000	0.20887	CCT		0.418	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		4	143	1	0	0.150653	1	0.156448	4	143				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	49	0	0	0	1	0	32	49				
TYRO3	7301	broad.mit.edu	37	15	41862822	41862822	+	Missense_Mutation	SNP	G	G	A	rs142874537		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr15:41862822G>A	ENST00000263798.3	+	12	1728	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	TYRO3_ENST00000559066.1_Missense_Mutation_p.D457N	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	502					apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGCATCAGCGATGAACTAAA	0.547																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(1504-1506)Gat>Aat		TYRO3 protein tyrosine kinase		G	ASN/ASP	0,4406		0,0,2203	86.0	87.0	87.0		1504	5.0	0.9	15	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	TYRO3	NM_006293.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	502/891	41862822	1,13005	2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41862822G>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1504G>A	15.37:g.41862822G>A	ENSP00000263798:p.Asp502Asn					TYRO3_ENST00000559066.1_Missense_Mutation_p.D457N	p.D502N	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	12	1728	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	502					O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1504G>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240716	0.58995	0.0	1.16E-4	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.74002	-0.8	4.99	4.99	0.66335	.	0.000000	0.37955	N	0.001871	T	0.66587	0.2804	L	0.33485	1.01	0.45554	D	0.998502	B	0.24768	0.111	B	0.15484	0.013	T	0.65080	-0.6255	10	0.56958	D	0.05	-19.3629	18.4637	0.90748	0.0:0.0:1.0:0.0	.	502	Q06418	TYRO3_HUMAN	N	434;502	ENSP00000263798:D502N	ENSP00000263798:D502N	D	+	1	0	TYRO3	39650114	1.000000	0.71417	0.948000	0.38648	0.971000	0.66376	4.876000	0.63079	2.579000	0.87056	0.563000	0.77884	GAT		0.547	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			14	114	0	0	0	1	0	14	114				
AOC1	26	broad.mit.edu	37	7	150554897	150554897	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr7:150554897G>A	ENST00000493429.1	+	4	1923	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S	AOC1_ENST00000416793.2_Missense_Mutation_p.G447S|AOC1_ENST00000467291.1_Missense_Mutation_p.G447S|AOC1_ENST00000360937.4_Missense_Mutation_p.G447S			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	447					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GGGGCTGAAGGGCCAGGTGCT	0.522																																						ENST00000493429.1																			0											c.(1339-1341)Ggc>Agc		amine oxidase, copper containing 1							58.0	64.0	62.0					7																	150554897		1995	4163	6158	SO:0001583	missense	26							g.chr7:150554897G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1339G>A	7.37:g.150554897G>A	ENSP00000418614:p.Gly447Ser					AOC1_ENST00000467291.1_Missense_Mutation_p.G447S|AOC1_ENST00000416793.2_Missense_Mutation_p.G447S|AOC1_ENST00000360937.4_Missense_Mutation_p.G447S	p.G447S							4	1923	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1339G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125909	0.77436	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03580	3.88;3.88;3.88;3.88	4.96	4.96	0.65561	Copper amine oxidase, C-terminal (3);	0.175601	0.49916	D	0.000122	T	0.06600	0.0169	L	0.31845	0.965	0.39085	D	0.960982	P;D	0.58620	0.875;0.983	P;P	0.56514	0.56;0.8	T	0.47935	-0.9078	10	0.23891	T	0.37	-15.012	9.4529	0.38736	0.0945:0.0:0.9055:0.0	.	447;447	C9J690;P19801	.;ABP1_HUMAN	S	447;447;447;447;323	ENSP00000418614:G447S;ENSP00000418328:G447S;ENSP00000354193:G447S;ENSP00000411613:G447S	ENSP00000354193:G447S	G	+	1	0	ABP1	150185830	0.336000	0.24757	0.748000	0.31131	0.954000	0.61252	2.452000	0.44961	2.735000	0.93741	0.561000	0.74099	GGC		0.522	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		5	45	0	0	0	1	0	5	45				
ZNF284	342909	broad.mit.edu	37	19	44590377	44590377	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr19:44590377A>T	ENST00000421176.3	+	5	962	c.746A>T	c.(745-747)cAt>cTt	p.H249L	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATGTATGTTCATTGCAAATTA	0.418																																						ENST00000421176.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(745-747)cAt>cTt		zinc finger protein 284							73.0	80.0	78.0					19																	44590377		2191	4300	6491	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590377A>T	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.746A>T	19.37:g.44590377A>T	ENSP00000411032:p.His249Leu					ZNF223_ENST00000591793.1_3'UTR	p.H249L	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN			5	962	+		Prostate(69;0.0435)	249					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.746A>T	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.647590	0.67358	.	.	ENSG00000186026	ENST00000421176	D	0.86865	-2.18	2.59	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.96074	0.8721	H	0.99545	4.62	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.87710	0.2566	9	0.87932	D	0	.	9.7725	0.40598	1.0:0.0:0.0:0.0	.	249	Q2VY69	ZN284_HUMAN	L	249	ENSP00000411032:H249L	ENSP00000411032:H249L	H	+	2	0	ZNF284	49282217	0.053000	0.20554	0.011000	0.14972	0.575000	0.36095	2.647000	0.46639	1.174000	0.42811	0.379000	0.24179	CAT		0.418	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		5	81	0	0	0	1	0	5	81				
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs	p.G2267fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		19	93						19	93	---	---	---	---
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr1:161202999_161203000insG	ENST00000367982.4	-	4	522_523	c.367_368insC	c.(367-369)cgcfs	p.R123fs	NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.R48fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367983.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.R94fs			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(367-369)ccafs		nuclear receptor subfamily 1, group I, member 3																																				SO:0001589	frameshift_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202999_161203000insG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.368dupC	1.37:g.161203002_161203002dupG	ENSP00000356961:p.Arg123fs					NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.P48fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367982.4_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.P94fs|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.P123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.P94fs	p.P123fs			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	661_662	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		123					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Frame_Shift_Ins	INS	ENST00000367982.4	37	c.367_368insC	CCDS41430.1																																																																																				0.564	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			7	197						7	197	---	---	---	---
UBA6-AS1	550112	broad.mit.edu	37	4	68632418	68632419	+	RNA	INS	-	-	ACACACACAT	rs141790878|rs2627241		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr4:68632418_68632419insACACACACAT	ENST00000500538.2	+	0	1905				UBA6-AS1_ENST00000502758.1_RNA					UBA6 antisense RNA 1 (head to head)																		cacacacacacaTATATATAct	0.431																																						ENST00000500538.2																			0																																																			0							g.chr4:68632418_68632419insACACACACAT			4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68632418_68632419insACACACACAT						RP11-453E17.1_ENST00000502758.1_RNA								0	1905	+									RNA	INS	ENST00000500538.2	37																																																																																						0.431	UBA6-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000362199.2			6	7						6	7	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cac>caGCAc	p.225_226insQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.225_226insQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	225	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(676-678)cct>cGCAct		ataxin 1																																				SO:0001652	inframe_insertion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327864_16327865insTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.675_677dupGCA	6.37:g.16327871_16327873dupTGC	ENSP00000244769:p.Gln225_Gln225dup					ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT	p.226_226P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1613_1614	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	226					Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	c.677_678insGCA	CCDS34342.1																																																																																				0.653	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		3	6						3	6	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			8	7						8	7	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	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.Q2726Q(9)		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)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(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.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	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.chr12:132547093_132547094insCAG	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.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		20	39						20	39	---	---	---	---
SLC5A10	125206	broad.mit.edu	37	17	18918510	18918511	+	In_Frame_Ins	INS	-	-	CGGTACGGGGGTGGGGGC	rs62066653|rs56122861		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chr17:18918510_18918511insCGGTACGGGGGTGGGGGC	ENST00000395645.3	+	11	1257_1258	c.1239_1240insCGGTACGGGGGTGGGGGC	c.(1240-1242)cgg>CGGTACGGGGGTGGGGGCcgg	p.414_414R>RYGGGGR	SLC5A10_ENST00000395643.2_In_Frame_Ins_p.387_387R>RYGGGGR|SLC5A10_ENST00000395642.1_In_Frame_Ins_p.347_347R>RYGGGGR|SLC5A10_ENST00000317977.6_In_Frame_Ins_p.347_347R>RYGGGGR|SLC5A10_ENST00000395647.2_In_Frame_Ins_p.430_430R>RYGGGGR|SLC5A10_ENST00000417251.2_In_Frame_Ins_p.378_378R>RYGGGGR	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	414					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGCTGGTGGGACGGTACGGGGG	0.644																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(1036-1041)gggcac>ggCGGTACGGGGGTGGGGGCgcac		solute carrier family 5 (sodium/sugar cotransporter), member 10			,	879,3059		216,447,1306					,	-6.3	0.9		dbSNP_130	13	5584,1796		2403,778,509	no	coding-near-splice,coding-near-splice	SLC5A10	NM_152351.3,NM_001042450.1	,	2619,1225,1815	A1A1,A1R,RR		24.336,22.321,42.8963	,	,		6463,4855				SO:0001652	inframe_insertion	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18918510_18918511insCGGTACGGGGGTGGGGGC		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	Exception_encountered	17.37:g.18918510_18918511insCGGTACGGGGGTGGGGGC	Exception_encountered					SLC5A10_ENST00000395643.2_In_Frame_Ins_p.386_387GA>GGTGVGAA|SLC5A10_ENST00000395647.2_In_Frame_Ins_p.429_430GA>GGTGVGAA|SLC5A10_ENST00000395642.1_In_Frame_Ins_p.346_347GH>GGTGVGAH|SLC5A10_ENST00000395645.3_In_Frame_Ins_p.413_414GA>GGTGVGAA|SLC5A10_ENST00000417251.2_In_Frame_Ins_p.377_378GA>GGTGVGAA	p.346_347GH>GGTGVGAH			A0PJK1	SC5AA_HUMAN			10	1609_1610	+			413					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	In_Frame_Ins	INS	ENST00000395645.3	37	c.1038_1039insCGGTACGGGGGTGGGGGC	CCDS42275.1																																																																																				0.644	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		7	18						7	18	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-DJ-A3V8-01A-11D-A23M-08	TCGA-DJ-A3V8-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26bcb953-7519-49e7-b082-98d98597c965	1e8f4678-2a06-4cf6-9bc8-722dd7440759	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			7	15						7	15	---	---	---	---
