#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
FGGY	55277	broad.mit.edu	37	1	59922666	59922666	+	Silent	SNP	T	T	C			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr1:59922666T>C	ENST00000303721.7	+	6	762	c.588T>C	c.(586-588)taT>taC	p.Y196Y	FGGY_ENST00000371218.4_Silent_p.Y196Y|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Silent_p.Y108Y	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	196					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGTGGACATATTCAGCAGAGA	0.373																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(586-588)taT>taC		FGGY carbohydrate kinase domain containing							140.0	137.0	138.0					1																	59922666		2203	4300	6503	SO:0001819	synonymous_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59922666T>C		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.588T>C	1.37:g.59922666T>C						FGGY_ENST00000303721.7_Silent_p.Y196Y|FGGY_ENST00000371212.1_Silent_p.Y108Y|FGGY_ENST00000474476.1_3'UTR	p.Y196Y	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			6	772	+	all_cancers(7;7.36e-05)		196					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.588T>C	CCDS611.2																																																																																				0.373	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		8	62	0	0	0	1	0	8	62				
ARSJ	79642	broad.mit.edu	37	4	114824011	114824011	+	Missense_Mutation	SNP	T	T	C	rs184463690	byFrequency	TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr4:114824011T>C	ENST00000315366.7	-	2	2085	c.1219A>G	c.(1219-1221)Ata>Gta	p.I407V	ARSJ_ENST00000541197.1_Missense_Mutation_p.I407V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	407					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCCTCACTTATGGTCTCCCAG	0.473													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		21851	0.0		0.0	False		,,,				2504	0.0					ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(1219-1221)Ata>Gta		arylsulfatase family, member J							154.0	149.0	151.0					4																	114824011		1954	4165	6119	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114824011T>C		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1219A>G	4.37:g.114824011T>C	ENSP00000320219:p.Ile407Val					ARSJ_ENST00000541197.1_Missense_Mutation_p.I407V	p.I407V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	2085	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	407					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.1219A>G	CCDS43264.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	T	16.64	3.178943	0.57692	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.96365	-3.99;-3.99	5.64	4.44	0.53790	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96889	0.8984	M	0.63208	1.945	0.39740	D	0.971739	P;P	0.41080	0.737;0.737	P;P	0.55303	0.605;0.773	D	0.96696	0.9514	10	0.54805	T	0.06	.	12.9109	0.58179	0.0:0.0:0.1357:0.8643	.	407;407	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	V	407	ENSP00000320219:I407V;ENSP00000438836:I407V	ENSP00000320219:I407V	I	-	1	0	ARSJ	115043460	1.000000	0.71417	0.976000	0.42696	0.981000	0.71138	2.718000	0.47236	0.943000	0.37553	0.533000	0.62120	ATA		0.473	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		9	131	0	0	0	1	0	9	131				
TAOK2	9344	broad.mit.edu	37	16	29989600	29989600	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr16:29989600C>T	ENST00000308893.4	+	4	1275	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAAGGAGGTGCGGTTCTTACA	0.577																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(232-234)Cgg>Tgg		TAO kinase 2							229.0	204.0	213.0					16																	29989600		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29989600C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.232C>T	16.37:g.29989600C>T	ENSP00000310094:p.Arg78Trp					TAOK2_ENST00000543033.1_Missense_Mutation_p.R78W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R78W	p.R78W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			4	1275	+			78			Protein kinase.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.232C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206422	0.79127	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.67345	-0.26;-0.26;-0.26	5.79	5.79	0.91817	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071573	0.64402	D	0.000018	T	0.80576	0.4649	M	0.76938	2.355	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.998;1.0	D;P;D;D	0.76071	0.987;0.904;0.942;0.987	T	0.80795	-0.1223	9	.	.	.	.	12.2952	0.54842	0.2706:0.7294:0.0:0.0	.	262;78;78;78	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	W	78	ENSP00000310094:R78W;ENSP00000440336:R78W;ENSP00000279394:R78W	.	R	+	1	2	TAOK2	29897101	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.606000	0.74159	2.736000	0.93811	0.561000	0.74099	CGG		0.577	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		5	302	0	0	0	1	0	5	302				
TNR	7143	broad.mit.edu	37	1	175328868	175328868	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr1:175328868C>T	ENST00000367674.2	-	15	3563		c.e15-1		TNR_ENST00000263525.2_Splice_Site			Q92752	TENR_HUMAN	tenascin R						associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TTGTCCATGGCTGAAACAGAA	0.483																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.e15-1		tenascin R							82.0	72.0	75.0					1																	175328868		2203	4300	6503	SO:0001630	splice_region_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175328868C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2855-1G>A	1.37:g.175328868C>T						TNR_ENST00000263525.2_Splice_Site		NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			15	3563	-	Renal(580;0.146)							C9J563|Q15568|Q5R3G0	Splice_Site	SNP	ENST00000367674.2	37		CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835638	0.91117	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.76	0.96311	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNR	173595491	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.228000	0.78079	2.753000	0.94483	0.655000	0.94253	.		0.483	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Intron	17	32	0	0	0	1	0	17	32				
SOS2	6655	broad.mit.edu	37	14	50626379	50626379	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr14:50626379G>A	ENST00000216373.5	-	10	1896	c.1622C>T	c.(1621-1623)tCt>tTt	p.S541F	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.S508F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	541	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S541Y(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATAATGAAGAGAAATAAGGGC	0.358																																						ENST00000216373.5																			2	Substitution - Missense(2)	p.S541Y(2)	large_intestine(2)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1621-1623)tCt>tTt		son of sevenless homolog 2 (Drosophila)							102.0	107.0	105.0					14																	50626379		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626379G>A	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1622C>T	14.37:g.50626379G>A	ENSP00000216373:p.Ser541Phe					SOS2_ENST00000543680.1_Missense_Mutation_p.S508F|SOS2_ENST00000555794.1_5'UTR	p.S541F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1896	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		541			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.1622C>T	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455937	0.84209	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.88046	-2.33;-2.33	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.094118	0.85682	D	0.000000	D	0.90109	0.6910	L	0.51422	1.61	0.80722	D	1	P;D;D	0.63046	0.773;0.974;0.992	P;P;P	0.55161	0.611;0.77;0.675	D	0.90406	0.4406	10	0.62326	D	0.03	.	19.6951	0.96022	0.0:0.0:1.0:0.0	.	508;571;541	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	F	541;508	ENSP00000216373:S541F;ENSP00000445328:S508F	ENSP00000216373:S541F	S	-	2	0	SOS2	49696129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.743000	0.98849	2.728000	0.93425	0.585000	0.79938	TCT		0.358	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			37	57	0	0	0	1	0	37	57				
EPHX2	2053	broad.mit.edu	37	8	27361137	27361137	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr8:27361137A>T	ENST00000521400.1	+	3	633	c.203A>T	c.(202-204)gAa>gTa	p.E68V	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000521780.1_Missense_Mutation_p.E2V|EPHX2_ENST00000380476.3_Missense_Mutation_p.E15V|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000518379.1_Missense_Mutation_p.E68V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	68	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CCACTCATGGAAGAAAACTGC	0.438																																						ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(202-204)gAa>gTa		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						28.0	29.0	29.0					8																	27361137		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27361137A>T	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.203A>T	8.37:g.27361137A>T	ENSP00000430269:p.Glu68Val					EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Missense_Mutation_p.E2V|EPHX2_ENST00000518379.1_Missense_Mutation_p.E68V|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Missense_Mutation_p.E15V	p.E68V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	3	633	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	68			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.203A>T	CCDS6060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.194380|4.194380	0.78902|0.78902	.|.	.|.	ENSG00000120915|ENSG00000120915	ENST00000521400;ENST00000518328;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379|ENST00000521684	T;T;T;T;T|.	0.39056|.	3.25;3.02;1.1;3.02;3.25|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.202716|.	0.51477|.	D|.	0.000100|.	T|.	0.66567|.	0.2802|.	M|M	0.66939|0.66939	2.045|2.045	0.44123|0.44123	D|D	0.9969|0.9969	P;P;B|.	0.50443|.	0.578;0.935;0.288|.	P;P;B|.	0.56751|.	0.648;0.805;0.211|.	T|.	0.66488|.	-0.5911|.	10|.	0.72032|.	D|.	0.01|.	-5.1075|-5.1075	12.106|12.106	0.53813|0.53813	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	68;68;68|.	E5RFU2;E7ETW9;P34913|.	.;.;HYES_HUMAN|.	V|X	68;68;2;15;68;68|68	ENSP00000430269:E68V;ENSP00000430779:E68V;ENSP00000430302:E2V;ENSP00000369843:E15V;ENSP00000427956:E68V|.	ENSP00000369843:E15V|.	E|K	+|+	2|1	0|0	EPHX2|EPHX2	27417054|27417054	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.521000|4.521000	0.60532|0.60532	2.167000|2.167000	0.68274|0.68274	0.528000|0.528000	0.53228|0.53228	GAA|AAG		0.438	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			3	15	0	0	0	1	0	3	15				
EBAG9	9166	broad.mit.edu	37	8	110567042	110567042	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr8:110567042C>G	ENST00000337573.5	+	4	547	c.247C>G	c.(247-249)Caa>Gaa	p.Q83E	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.Q83E|EBAG9_ENST00000395785.2_Missense_Mutation_p.Q83E	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	83					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TGTGGCAACACAACAAAATTC	0.388																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(247-249)Caa>Gaa		estrogen receptor binding site associated, antigen, 9							149.0	133.0	139.0					8																	110567042		2203	4300	6503	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110567042C>G	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.247C>G	8.37:g.110567042C>G	ENSP00000337675:p.Gln83Glu					EBAG9_ENST00000531677.1_Missense_Mutation_p.Q83E|EBAG9_ENST00000395785.2_Missense_Mutation_p.Q83E|EBAG9_ENST00000529502.1_3'UTR	p.Q83E	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		4	547	+			83					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.247C>G	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338480	0.24253	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.53	5.53	0.82687	.	0.218768	0.47852	D	0.000215	T	0.56171	0.1967	L	0.38531	1.155	0.38563	D	0.949741	B	0.18863	0.031	B	0.16722	0.016	T	0.53683	-0.8404	9	0.45353	T	0.12	-15.9334	18.8249	0.92114	0.0:1.0:0.0:0.0	.	83	O00559	RCAS1_HUMAN	E	83	.	ENSP00000337675:Q83E	Q	+	1	0	EBAG9	110636218	0.792000	0.28813	0.083000	0.20561	0.499000	0.33736	3.474000	0.53129	2.770000	0.95276	0.655000	0.94253	CAA		0.388	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		8	83	0	0	0	1	0	8	83				
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr12:11461589A>G	ENST00000535904.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000279575.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	131	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(328-330)Tcc>Ccc		proline-rich protein BstNI subfamily 4							166.0	175.0	172.0					12																	11461589		2202	4300	6502	SO:0001583	missense	5545					extracellular region		g.chr12:11461589A>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.328T>C	12.37:g.11461589A>G	ENSP00000442834:p.Ser110Pro	HNSCC(22;0.051)				PRB4_ENST00000535904.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P	p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	361	-			152			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.328T>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.945176	0.00479	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04706	3.57;3.57;3.57	0.678	-1.36	0.09085	.	.	.	.	.	T	0.02380	0.0073	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	8	0.32370	T	0.25	.	.	.	.	.	110	E9PAL0	.	P	110	ENSP00000279575:S110P;ENSP00000442834:S110P;ENSP00000412740:S110P	ENSP00000279575:S110P	S	-	1	0	PRB4	11352856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.351000	0.02622	-3.181000	0.00222	-3.255000	0.00050	TCC		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		9	446	0	0	0	1	0	9	446				
LILRP2	79166	broad.mit.edu	37	19	55221570	55221570	+	RNA	SNP	A	A	C	rs554223424	byFrequency	TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr19:55221570A>C	ENST00000413439.1	+	0	1350									leukocyte immunoglobulin-like receptor pseudogene 2																		TACAGATGCTACGGTGCACAC	0.677													.|||	5	0.000998403	0.0	0.0014	5008	,	,		16629	0.003		0.001	False		,,,				2504	0.0				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221570A>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221570A>C														0	1350	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.677	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	73	0	0	0	1	0	5	73				
YPEL3	83719	broad.mit.edu	37	16	30106212	30106212	+	Silent	SNP	G	G	A			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr16:30106212G>A	ENST00000398838.4	-	4	381	c.168C>T	c.(166-168)aaC>aaT	p.N56N	YPEL3_ENST00000562641.1_Silent_p.N94N|YPEL3_ENST00000566595.1_Silent_p.N56N|YPEL3_ENST00000563788.1_Silent_p.N56N|YPEL3_ENST00000566134.1_Intron|RP11-455F5.3_ENST00000515455.2_RNA|YPEL3_ENST00000398841.1_Silent_p.N94N|YPEL3_ENST00000565479.1_5'UTR	NM_001145524.1	NP_001138996.1	P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	56						nucleus (GO:0005634)		p.N94N(1)		endometrium(1)|lung(2)	3						CGCAGCCCACGTTCACCCTGT	0.622																																						ENST00000562641.1																			1	Substitution - coding silent(1)	p.N94N(1)	endometrium(1)	endometrium(1)|lung(2)	3						c.(280-282)aaC>aaT		yippee-like 3 (Drosophila)							35.0	40.0	38.0					16																	30106212		2139	4270	6409	SO:0001819	synonymous_variant	83719					nucleolus		g.chr16:30106212G>A	AF305622	CCDS42147.1, CCDS45459.1	16p11	2008-02-05							18327	protein-coding gene	gene with protein product		609724					Standard	NM_031477		Approved	MGC10500	uc002dwm.3	P61236		ENST00000398838.4:c.168C>T	16.37:g.30106212G>A						YPEL3_ENST00000566595.1_Silent_p.N56N|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398841.1_Silent_p.N94N|YPEL3_ENST00000566134.1_Intron|YPEL3_ENST00000563788.1_Silent_p.N56N|YPEL3_ENST00000398838.4_Silent_p.N56N	p.N94N			P61236	YPEL3_HUMAN			3	811	-			56					Q65Z99|Q86VK6|Q9BSJ4|Q9CQB6	Silent	SNP	ENST00000398838.4	37	c.282C>T	CCDS45459.1																																																																																				0.622	YPEL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434043.1	NM_031477		35	46	0	0	0	1	0	35	46				
NAV3	89795	broad.mit.edu	37	12	78594266	78594266	+	Silent	SNP	C	C	T			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr12:78594266C>T	ENST00000397909.2	+	38	6902	c.6729C>T	c.(6727-6729)ttC>ttT	p.F2243F	NAV3_ENST00000266692.7_Silent_p.F2044F|NAV3_ENST00000228327.6_Silent_p.F2221F|NAV3_ENST00000536525.2_Silent_p.F2221F|NAV3_ENST00000541270.1_Silent_p.F73F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2243						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCGACTATTCCTTCCTTGCC	0.343										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6727-6729)ttC>ttT		neuron navigator 3							113.0	99.0	103.0					12																	78594266		1816	4069	5885	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78594266C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6729C>T	12.37:g.78594266C>T		HNSCC(70;0.22)				NAV3_ENST00000266692.7_Silent_p.F2044F|NAV3_ENST00000536525.2_Silent_p.F2221F|NAV3_ENST00000541270.1_Silent_p.F73F|NAV3_ENST00000228327.6_Silent_p.F2221F	p.F2243F			Q8IVL0	NAV3_HUMAN			38	6902	+			2243					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.6729C>T		.	.	.	.	.	.	.	.	.	.	C	8.770	0.925733	0.18056	.	.	ENSG00000067798	ENST00000552895;ENST00000551162	.	.	.	5.16	3.33	0.38152	.	.	.	.	.	T	0.57621	0.2066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51764	-0.8664	4	.	.	.	-16.0776	7.9197	0.29839	0.0:0.6867:0.0:0.3133	.	.	.	.	S	1116;111	.	.	P	+	1	0	NAV3	77118397	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	0.723000	0.25939	0.684000	0.31448	0.563000	0.77884	CCT		0.343	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		29	30	0	0	0	1	0	29	30				
ZIC2	7546	broad.mit.edu	37	13	100635025	100635025	+	Missense_Mutation	SNP	A	A	G	rs370011753		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr13:100635025A>G	ENST00000376335.3	+	1	1000	c.707A>G	c.(706-708)cAc>cGc	p.H236R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	236	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					caccaccaccaccaccaccac	0.597																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(706-708)cAc>cGc		Zic family member 2		A	ARG/HIS	0,4406		0,0,2203	33.0	40.0	38.0		707	4.6	1.0	13		38	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZIC2	NM_007129.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	236/533	100635025	1,13005	2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635025A>G	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.707A>G	13.37:g.100635025A>G	ENSP00000365514:p.His236Arg						p.H236R	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1000	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		236			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His.		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.707A>G	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.911433	0.52439	0.0	1.16E-4	ENSG00000043355	ENST00000376335;ENST00000425702	T	0.13778	2.56	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	T	0.17323	0.0416	N	0.08118	0	0.43959	D	0.996636	D	0.57899	0.981	D	0.67231	0.95	T	0.22173	-1.0224	10	0.40728	T	0.16	.	14.0708	0.64858	1.0:0.0:0.0:0.0	.	236	O95409	ZIC2_HUMAN	R	236	ENSP00000365514:H236R	ENSP00000365514:H236R	H	+	2	0	ZIC2	99433026	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.252000	0.65445	2.064000	0.61679	0.459000	0.35465	CAC		0.597	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		9	75	0	0	0	1	0	9	75				
C10orf2	56652	broad.mit.edu	37	10	102748581	102748581	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr10:102748581T>G	ENST00000311916.2	+	1	799	c.614T>G	c.(613-615)gTc>gGc	p.V205G	MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.V205G|MRPL43_ENST00000493646.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	205					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGCAGTCTTGTCTTCCCTTGG	0.527																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(613-615)gTc>gGc		chromosome 10 open reading frame 2							95.0	102.0	100.0					10																	102748581		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748581T>G	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.614T>G	10.37:g.102748581T>G	ENSP00000309595:p.Val205Gly					C10orf2_ENST00000311916.2_Missense_Mutation_p.V205G|C10orf2_ENST00000473656.1_Intron	p.V205G	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	799	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	205					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.614T>G	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000914	0.74818	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.95885	-3.53;-3.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97433	0.9160	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.923	D	0.97514	1.0068	10	0.48119	T	0.1	-12.4978	14.8057	0.69952	0.0:0.0:0.0:1.0	.	205;205	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	G	205	ENSP00000309595:V205G;ENSP00000359248:V205G	ENSP00000309595:V205G	V	+	2	0	C10orf2	102738571	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.903000	0.87398	2.180000	0.69256	0.379000	0.24179	GTC		0.527	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		33	36	0	0	0	1	0	33	36				
DNAJC13	23317	broad.mit.edu	37	3	132229980	132229980	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:132229980A>G	ENST00000260818.6	+	44	5433	c.5185A>G	c.(5185-5187)Atg>Gtg	p.M1729V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1729					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCACACATTCATGGCCATCAC	0.433																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(5185-5187)Atg>Gtg		DnaJ (Hsp40) homolog, subfamily C, member 13							145.0	145.0	145.0					3																	132229980		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132229980A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5185A>G	3.37:g.132229980A>G	ENSP00000260818:p.Met1729Val						p.M1729V	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			44	5433	+			1729					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.5185A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458396	0.26248	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.16196	2.36	5.76	5.76	0.90799	Armadillo-type fold (1);	0.052745	0.85682	D	0.000000	T	0.12518	0.0304	N	0.17474	0.49	0.43583	D	0.995929	B	0.15141	0.012	B	0.12156	0.007	T	0.11916	-1.0568	10	0.27082	T	0.32	.	16.0676	0.80897	1.0:0.0:0.0:0.0	.	1729	O75165	DJC13_HUMAN	V	1729;376	ENSP00000260818:M1729V	ENSP00000260818:M1729V	M	+	1	0	DNAJC13	133712670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.742000	0.74843	2.201000	0.70794	0.533000	0.62120	ATG		0.433	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		61	85	0	0	0	1	0	61	85				
GDNF	2668	broad.mit.edu	37	5	37815925	37815925	+	Missense_Mutation	SNP	G	G	A	rs200174030		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr5:37815925G>A	ENST00000326524.2	-	3	663	c.464C>T	c.(463-465)aCg>aTg	p.T155M	GDNF_ENST00000515058.1_Missense_Mutation_p.T129M|GDNF_ENST00000381826.4_Missense_Mutation_p.T146M|GDNF_ENST00000427982.1_Missense_Mutation_p.T172M|GDNF_ENST00000344622.4_Missense_Mutation_p.T129M	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	155					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TTTGTCGTACGTTGTCTCAGC	0.453																																						ENST00000326524.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(463-465)aCg>aTg		glial cell derived neurotrophic factor							120.0	117.0	118.0					5																	37815925		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815925G>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.464C>T	5.37:g.37815925G>A	ENSP00000317145:p.Thr155Met					GDNF_ENST00000515058.1_Missense_Mutation_p.T129M|GDNF_ENST00000344622.4_Missense_Mutation_p.T129M|GDNF_ENST00000381826.4_Missense_Mutation_p.T146M|GDNF_ENST00000427982.1_Missense_Mutation_p.T172M	p.T155M	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			3	663	-	all_lung(31;0.00118)		155					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.464C>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	G	5.645	0.303714	0.10678	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.76	-0.187	0.13268	Transforming growth factor-beta, C-terminal (3);	0.297798	0.42053	N	0.000761	T	0.73353	0.3576	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.15719	0.002;0.001;0.014;0.004	B;B;B;B	0.14023	0.003;0.002;0.01;0.002	T	0.59542	-0.7435	10	0.37606	T	0.19	-1.2608	6.2833	0.21019	0.4739:0.1329:0.3932:0.0	.	155;146;172;129	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	M	155;129;129;172;146	ENSP00000317145:T155M;ENSP00000339703:T129M;ENSP00000425928:T129M;ENSP00000409007:T172M;ENSP00000371248:T146M	ENSP00000317145:T155M	T	-	2	0	GDNF	37851682	1.000000	0.71417	0.055000	0.19348	0.902000	0.53008	2.163000	0.42377	0.059000	0.16252	-0.345000	0.07892	ACG		0.453	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		4	107	0	0	0	1	0	4	107				
NBEA	26960	broad.mit.edu	37	13	35864536	35864536	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr13:35864536T>A	ENST00000400445.3	+	35	6321	c.5787T>A	c.(5785-5787)tgT>tgA	p.C1929*	NBEA_ENST00000310336.4_Nonsense_Mutation_p.C1929*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.C1929*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.C1926*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1929					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCTTGTTTGTATGAAGTCCA	0.303																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(5785-5787)tgT>tgA		neurobeachin							279.0	262.0	267.0					13																	35864536		1844	4093	5937	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35864536T>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5787T>A	13.37:g.35864536T>A	ENSP00000383295:p.Cys1929*					NBEA_ENST00000310336.4_Nonsense_Mutation_p.C1929*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.C1929*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.C1926*	p.C1929*			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	35	6321	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1929					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.5787T>A	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	49	16.011216	0.99852	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	.	.	.	4.76	-0.147	0.13428	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1549	0.42816	0.0:0.2967:0.0:0.7033	.	.	.	.	X	1929;1929;1926;1929;556	.	ENSP00000308534:C1929X	C	+	3	2	NBEA	34762536	0.909000	0.30893	0.983000	0.44433	0.983000	0.72400	0.027000	0.13621	-0.051000	0.13334	0.377000	0.23210	TGT		0.303	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		88	117	0	0	0	1	0	88	117				
ADAMTS9	56999	broad.mit.edu	37	3	64640262	64640262	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:64640262T>G	ENST00000498707.1	-	7	1538	c.1196A>C	c.(1195-1197)aAa>aCa	p.K399T	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K399T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K371T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	399	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGTATCACATTTGTCGTGAGC	0.383																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(1195-1197)aAa>aCa		ADAM metallopeptidase with thrombospondin type 1 motif, 9							129.0	124.0	126.0					3																	64640262		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64640262T>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1196A>C	3.37:g.64640262T>G	ENSP00000418735:p.Lys399Thr					ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K399T|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K371T	p.K399T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	7	1538	-		Lung NSC(201;0.00682)	399			Peptidase M12B.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.1196A>C	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784612	0.90282	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.63580	-0.05;-0.05;-0.05	5.45	5.45	0.79879	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.75287	0.3829	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.995	D;D;D;D	0.91635	0.99;0.983;0.999;0.934	T	0.76675	-0.2872	10	0.54805	T	0.06	.	15.5118	0.75789	0.0:0.0:0.0:1.0	.	371;399;399;399	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	T	371;399;399	ENSP00000295903:K371T;ENSP00000418735:K399T;ENSP00000419217:K399T	ENSP00000295903:K371T	K	-	2	0	ADAMTS9	64615302	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.958000	0.87877	2.069000	0.61940	0.533000	0.62120	AAA		0.383	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			4	85	0	0	0	1	0	4	85				
HTR3B	9177	broad.mit.edu	37	11	113802568	113802568	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr11:113802568C>T	ENST00000260191.2	+	4	604	c.347C>T	c.(346-348)cCc>cTc	p.P116L	HTR3B_ENST00000537778.1_Missense_Mutation_p.P105L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	116					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	ATCTGGGCCCCCGATATCATC	0.448																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(346-348)cCc>cTc		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							133.0	118.0	123.0					11																	113802568		2201	4296	6497	SO:0001583	missense	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113802568C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.347C>T	11.37:g.113802568C>T	ENSP00000260191:p.Pro116Leu					HTR3B_ENST00000537778.1_Missense_Mutation_p.P105L	p.P116L	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	4	604	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	116					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.347C>T	CCDS8364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.085487|4.085487	0.76642|0.76642	.|.	.|.	ENSG00000149305|ENSG00000149305	ENST00000260191;ENST00000537778|ENST00000543092	D;D|D	0.98567|0.98550	-5.0;-5.0|-4.99	5.41|5.41	5.41|5.41	0.78517|0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99372|0.99372	0.9779|0.9779	H|H	0.96633|0.96633	3.855|3.855	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.98614|0.98614	1.0664|1.0664	10|8	0.87932|0.87932	D|D	0|0	-14.5234|-14.5234	18.3237|18.3237	0.90246|0.90246	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	105;116|.	O95264-2;O95264|.	.;5HT3B_HUMAN|.	L|S	116;105|45	ENSP00000260191:P116L;ENSP00000443118:P105L|ENSP00000440894:P45S	ENSP00000260191:P116L|ENSP00000440894:P45S	P|P	+|+	2|1	0|0	HTR3B|HTR3B	113307778|113307778	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.560000|0.560000	0.35617|0.35617	7.455000|7.455000	0.80726|0.80726	2.697000|2.697000	0.92050|0.92050	0.563000|0.563000	0.77884|0.77884	CCC|CCG		0.448	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		27	66	0	0	0	1	0	27	66				
ABCA12	26154	broad.mit.edu	37	2	215896644	215896644	+	Intron	SNP	G	G	A			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr2:215896644G>A	ENST00000272895.7	-	9	1205				AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.T3I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTATATAGGTAAACATTTA	0.368																																					Ovarian(66;664 1488 5121 34295)	ENST00000389661.4																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(7-9)aCc>aTc		ATP-binding cassette, sub-family A (ABC1), member 12							87.0	91.0	90.0					2																	215896644		2203	4300	6503	SO:0001627	intron_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215896644G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.986-24C>T	2.37:g.215896644G>A						AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000272895.7_Intron	p.T3I	NM_015657.3	NP_056472.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	1	166	-		Renal(323;0.127)	0					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.8C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321372	0.41096	.	.	ENSG00000144452	ENST00000389661	D	0.88046	-2.33	5.25	2.41	0.29592	.	.	.	.	.	T	0.74981	0.3788	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58679	-0.7594	7	.	.	.	.	5.4438	0.16523	0.1781:0.0:0.6585:0.1634	.	3	Q86UK0-2	.	I	3	ENSP00000374312:T3I	.	T	-	2	0	ABCA12	215604889	0.001000	0.12720	0.001000	0.08648	0.527000	0.34593	0.111000	0.15458	0.721000	0.32231	0.650000	0.86243	ACC		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	57	0	0	0	1	0	5	57				
LILRP2	79166	broad.mit.edu	37	19	55221559	55221559	+	RNA	SNP	G	G	T			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr19:55221559G>T	ENST00000413439.1	+	0	1339									leukocyte immunoglobulin-like receptor pseudogene 2																		ACGGGGGCCAGTACAGATGCT	0.672																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221559G>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221559G>T														0	1339	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.672	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	68	1	0	3.59834e-05	1	3.77825e-05	5	68				
TMEM132D	121256	broad.mit.edu	37	12	129569241	129569241	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr12:129569241C>G	ENST00000422113.2	-	6	1776	c.1450G>C	c.(1450-1452)Gac>Cac	p.D484H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D22H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	484					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACATCTGTCAGAAACCTGT	0.527																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1450-1452)Gac>Cac		transmembrane protein 132D							80.0	68.0	72.0					12																	129569241		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129569241C>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1450G>C	12.37:g.129569241C>G	ENSP00000408581:p.Asp484His					TMEM132D_ENST00000389441.4_Missense_Mutation_p.D22H	p.D484H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1776	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	484					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1450G>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	c	16.09	3.023799	0.54683	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.23552	2.52;1.9	4.78	3.89	0.44902	.	0.000000	0.64402	D	0.000001	T	0.45558	0.1348	M	0.62209	1.925	0.44619	D	0.997596	D;D	0.89917	0.997;1.0	D;D	0.74348	0.912;0.983	T	0.33240	-0.9876	9	.	.	.	-52.918	12.8747	0.57984	0.0:0.9207:0.0:0.0793	.	484;22	Q14C87;Q14C87-2	T132D_HUMAN;.	H	22;484	ENSP00000374092:D22H;ENSP00000408581:D484H	.	D	-	1	0	TMEM132D	128135194	1.000000	0.71417	0.626000	0.29213	0.655000	0.38815	4.527000	0.60573	0.995000	0.38917	0.556000	0.70494	GAC		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		4	27	0	0	0	1	0	4	27				
FLT1	2321	broad.mit.edu	37	13	29005322	29005322	+	Silent	SNP	T	T	C			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr13:29005322T>C	ENST00000282397.4	-	7	1190	c.939A>G	c.(937-939)gtA>gtG	p.V313V	FLT1_ENST00000541932.1_Silent_p.V313V|FLT1_ENST00000539099.1_Silent_p.V313V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	313	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCACTCCTTACACGACAAG	0.378																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(937-939)gtA>gtG		fms-related tyrosine kinase 1	Sunitinib(DB01268)						231.0	191.0	205.0					13																	29005322		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29005322T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.939A>G	13.37:g.29005322T>C						FLT1_ENST00000541932.1_Silent_p.V313V|FLT1_ENST00000539099.1_Silent_p.V313V	p.V313V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	7	1190	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	313			Ig-like C2-type 3.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.939A>G	CCDS9330.1																																																																																				0.378	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			4	95	0	0	0	1	0	4	95				
CCDC136	64753	broad.mit.edu	37	7	128452273	128452273	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr7:128452273G>C	ENST00000297788.4	+	13	2815	c.2448G>C	c.(2446-2448)aaG>aaC	p.K816N	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	816	Ser-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCTATAAGAAGAGTTACGGCA	0.517																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(2446-2448)aaG>aaC		coiled-coil domain containing 136							61.0	59.0	60.0					7																	128452273		2054	4202	6256	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128452273G>C		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2448G>C	7.37:g.128452273G>C	ENSP00000297788:p.Lys816Asn					CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron	p.K816N	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			13	2815	+			816			Ser-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.2448G>C	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.344016|5.344016	0.95807|0.95807	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T|.	0.35236|.	1.32|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.573238|.	0.17956|.	N|.	0.156345|.	T|T	0.50939|0.50939	0.1645|0.1645	L|L	0.29908|0.29908	0.895|0.895	0.35528|0.35528	D|D	0.802001|0.802001	P;P;P|.	0.51351|.	0.944;0.944;0.835|.	P;P;B|.	0.52957|.	0.714;0.628;0.407|.	T|T	0.55704|0.55704	-0.8099|-0.8099	10|5	0.41790|.	T|.	0.15|.	-23.9401|-23.9401	15.5865|15.5865	0.76489|0.76489	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	816;816;816|.	Q96JN2-4;Q96JN2-2;Q96JN2|.	.;.;CC136_HUMAN|.	N|T	816;816;816;407|693	ENSP00000297788:K816N|.	ENSP00000297788:K816N|.	K|R	+|+	3|2	2|0	CCDC136|CCDC136	128239509|128239509	0.985000|0.985000	0.35326|0.35326	0.984000|0.984000	0.44739|0.44739	0.697000|0.697000	0.40408|0.40408	1.428000|1.428000	0.34892|0.34892	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.517	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		4	48	0	0	0	1	0	4	48				
MMP7	4316	broad.mit.edu	37	11	102395783	102395783	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr11:102395783G>A	ENST00000260227.4	-	4	549	c.497C>T	c.(496-498)tCc>tTc	p.S166F		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	166					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	AAATGGGTAGGAGTCCCCATG	0.458																																						ENST00000260227.4																			0				large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(496-498)tCc>tTc		matrix metallopeptidase 7 (matrilysin, uterine)							83.0	72.0	76.0					11																	102395783		2203	4299	6502	SO:0001583	missense	4316				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:102395783G>A	Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.497C>T	11.37:g.102395783G>A	ENSP00000260227:p.Ser166Phe						p.S166F	NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	4	549	-	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	166					Q9BTK9	Missense_Mutation	SNP	ENST00000260227.4	37	c.497C>T	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.615691	0.00120	.	.	ENSG00000137673	ENST00000260227	T	0.50813	0.73	5.12	-10.2	0.00374	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	4.014020	0.00357	N	0.000022	T	0.17109	0.0411	N	0.05608	-0.01	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.28106	-1.0054	10	0.02654	T	1	-1.4641	2.5744	0.04803	0.2213:0.1243:0.1612:0.4932	.	166;166	Q53GF1;P09237	.;MMP7_HUMAN	F	166	ENSP00000260227:S166F	ENSP00000260227:S166F	S	-	2	0	MMP7	101900993	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.114000	0.00150	-3.085000	0.00249	-1.014000	0.02459	TCC		0.458	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2			4	43	0	0	0	1	0	4	43				
AHNAK2	113146	broad.mit.edu	37	14	105419219	105419219	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr14:105419219C>T	ENST00000333244.5	-	7	2688	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	857						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGACACATCCACCGAGTCC	0.597																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2569-2571)Gat>Aat		AHNAK nucleoprotein 2							205.0	228.0	220.0					14																	105419219		1985	4147	6132	SO:0001583	missense	113146					nucleus		g.chr14:105419219C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2569G>A	14.37:g.105419219C>T	ENSP00000353114:p.Asp857Asn					AHNAK2_ENST00000557457.1_Intron	p.D857N	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2688	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	857					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2569G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	18.86	3.713624	0.68730	.	.	ENSG00000185567	ENST00000333244	T	0.03330	3.97	4.02	3.09	0.35607	.	.	.	.	.	T	0.09555	0.0235	L	0.56199	1.76	0.19300	N	0.999971	D	0.54047	0.964	P	0.55345	0.774	T	0.16012	-1.0417	9	0.37606	T	0.19	-16.4555	11.1296	0.48339	0.0:0.8105:0.1895:0.0	.	857	Q8IVF2	AHNK2_HUMAN	N	857	ENSP00000353114:D857N	ENSP00000353114:D857N	D	-	1	0	AHNAK2	104490264	0.096000	0.21769	0.023000	0.16930	0.019000	0.09904	1.379000	0.34340	0.620000	0.30215	0.491000	0.48974	GAT		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	415	0	0	0	1	0	8	415				
POU6F2	11281	broad.mit.edu	37	7	39379332	39379332	+	Silent	SNP	C	C	A			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr7:39379332C>A	ENST00000403058.1	+	6	757	c.603C>A	c.(601-603)acC>acA	p.T201T	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Silent_p.T201T|POU6F2_ENST00000559001.1_Silent_p.T193T	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	201	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCCGTCAACCAACCAGCACC	0.682																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(601-603)acC>acA		POU class 6 homeobox 2							17.0	21.0	20.0					7																	39379332		2202	4294	6496	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379332C>A	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.603C>A	7.37:g.39379332C>A						POU6F2_ENST00000403058.1_Silent_p.T201T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Silent_p.T193T	p.T201T			P78424	PO6F2_HUMAN			5	645	+			201			Gln-rich.|Pro-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.603C>A	CCDS34620.2																																																																																				0.682	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		10	13	1	0	0.000673444	1	0.000689869	10	13				
PIH1D2	120379	broad.mit.edu	37	11	111941848	111941848	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr11:111941848C>G	ENST00000280350.4	-	4	683	c.461G>C	c.(460-462)aGa>aCa	p.R154T	PIH1D2_ENST00000530641.1_Missense_Mutation_p.R154T|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000532211.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000431456.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.R154T	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	154										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TCCTTTTATTCTAAATTTGGT	0.338																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(460-462)aGa>aCa		PIH1 domain containing 2							135.0	136.0	136.0					11																	111941848		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111941848C>G	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.461G>C	11.37:g.111941848C>G	ENSP00000280350:p.Arg154Thr					PIH1D2_ENST00000280350.4_Missense_Mutation_p.R154T|PIH1D2_ENST00000532211.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000431456.1_Missense_Mutation_p.R154T|PIH1D2_ENST00000528775.1_Missense_Mutation_p.R154T	p.R154T			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	4	786	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	154					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.461G>C	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.74|11.74	1.730027|1.730027	0.30684|0.30684	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.18338|.	2.22;2.22;2.22;2.22;2.22;2.22|.	5.9|5.9	-4.73|-4.73	0.03259|0.03259	.|.	0.579708|.	0.20168|.	N|.	0.097796|.	T|.	0.50837|.	0.1639|.	M|M	0.74881|0.74881	2.28|2.28	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.001;0.004;0.003|.	B;B;B|.	0.12156|.	0.004;0.007;0.004|.	T|.	0.55958|.	-0.8058|.	10|.	0.24483|.	T|.	0.36|.	-2.7252|-2.7252	9.043|9.043	0.36329|0.36329	0.0:0.1706:0.2067:0.6227|0.0:0.1706:0.2067:0.6227	.|.	154;154;154|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	T|Y	154;154;154;154;154;119|109	ENSP00000434275:R154T;ENSP00000388209:R154T;ENSP00000431841:R154T;ENSP00000280350:R154T;ENSP00000431147:R154T;ENSP00000433297:R119T|.	ENSP00000280350:R154T|.	R|X	-|-	2|3	0|2	PIH1D2|PIH1D2	111447058|111447058	0.101000|0.101000	0.21875|0.21875	0.729000|0.729000	0.30791|0.30791	0.978000|0.978000	0.69477|0.69477	-0.653000|-0.653000	0.05360|0.05360	-0.488000|-0.488000	0.06726|0.06726	-0.218000|-0.218000	0.12543|0.12543	AGA|TAG		0.338	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		8	80	0	0	0	1	0	8	80				
RET	5979	broad.mit.edu	37	10	43619150	43619150	+	Missense_Mutation	SNP	G	G	A	rs587780811		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr10:43619150G>A	ENST00000355710.3	+	17	3065	c.2833G>A	c.(2833-2835)Gtg>Atg	p.V945M	RET_ENST00000340058.5_Missense_Mutation_p.V945M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	945	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTGGGAGATCGTGACCCTAGG	0.607		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2833-2835)Gtg>Atg		ret proto-oncogene	Sunitinib(DB01268)						127.0	125.0	126.0					10																	43619150		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43619150G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2833G>A	10.37:g.43619150G>A	ENSP00000347942:p.Val945Met					RET_ENST00000340058.5_Missense_Mutation_p.V945M	p.V945M	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			17	3065	+		Ovarian(717;0.0423)	945			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2833G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839051	0.51057	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.82984	-1.67;-1.67	5.33	4.4	0.53042	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86058	0.5842	L	0.31120	0.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.87720	0.2572	10	0.87932	D	0	.	15.0462	0.71830	0.0:0.0:0.8567:0.1433	.	691;945;945	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	M	945	ENSP00000347942:V945M;ENSP00000344798:V945M	ENSP00000344798:V945M	V	+	1	0	RET	42939156	1.000000	0.71417	0.896000	0.35187	0.139000	0.21198	6.815000	0.75242	1.199000	0.43173	0.563000	0.77884	GTG		0.607	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		78	103	0	0	0	1	0	78	103				
MUC20	200958	broad.mit.edu	37	3	195453270	195453270	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:195453270C>G	ENST00000447234.2	+	2	1922	c.1796C>G	c.(1795-1797)cCc>cGc	p.P599R	MUC20_ENST00000436408.1_Missense_Mutation_p.P599R|MUC20_ENST00000320736.6_Missense_Mutation_p.P428R|MUC20_ENST00000445522.2_Missense_Mutation_p.P564R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	599	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		ACCAAGGGGCCCTTCCCCACC	0.597																																						ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(1282-1284)cCc>cGc		mucin 20, cell surface associated							62.0	63.0	63.0					3																	195453270		2083	4200	6283	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453270C>G	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1796C>G	3.37:g.195453270C>G	ENSP00000414350:p.Pro599Arg					MUC20_ENST00000445522.2_Missense_Mutation_p.P564R|MUC20_ENST00000447234.2_Missense_Mutation_p.P599R|MUC20_ENST00000436408.1_Missense_Mutation_p.P599R	p.P428R	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1409	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	599					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.1283C>G		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262488	0.39995	.	.	ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.14516	2.92;2.93;3.09;2.5	4.27	-1.52	0.08637	.	1.353380	0.04983	N	0.465909	T	0.10078	0.0247	L	0.34521	1.04	0.09310	N	1	B	0.27656	0.184	B	0.29176	0.099	T	0.39901	-0.9591	10	0.72032	D	0.01	0.6259	1.104	0.01690	0.1648:0.2941:0.3222:0.2188	.	428	E9PH32	.	R	410;599;428;599;564	ENSP00000414350:P599R;ENSP00000325431:P428R;ENSP00000396774:P599R;ENSP00000405629:P564R	ENSP00000325431:P428R	P	+	2	0	MUC20	196938941	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.206000	0.09398	-0.098000	0.12285	0.563000	0.77884	CCC		0.597	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		14	38	0	0	0	1	0	14	38				
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	RNA	SNP	C	C	A	rs182566717		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:195717061C>A	ENST00000427841.1	-	0	89					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AGGGACTCACCGCCTTGGCCA	0.791																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195717061C>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195717061C>A								NR_003264.2						0	89	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.791	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	15	1	0	0.014758	1	0.014758	4	15				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	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		28	49	0	0	0	1	0	28	49				
NECAP1	25977	broad.mit.edu	37	12	8244414	8244414	+	Silent	SNP	C	C	T			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr12:8244414C>T	ENST00000339754.5	+	4	429	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	117					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		GAGATGCCTTCGACTTTAATG	0.483																																						ENST00000339754.5																			0				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(349-351)ttC>ttT		NECAP endocytosis associated 1							175.0	126.0	143.0					12																	8244414		2203	4300	6503	SO:0001819	synonymous_variant	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8244414C>T	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.351C>T	12.37:g.8244414C>T							p.F117F	NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	4	429	+			117					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Silent	SNP	ENST00000339754.5	37	c.351C>T	CCDS8589.1																																																																																				0.483	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1	NM_015509		9	17	0	0	0	1	0	9	17				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	14	0	0	0	1	0	5	14				
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	lincRNA	SNP	G	G	C			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr1:16946471G>C	ENST00000412962.1	-	0	1048				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CGCTGCAGCTGACTCTGCAGC	0.677																																						ENST00000412962.1																			0																																																			0							g.chr1:16946471G>C	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.16946471G>C														0	1048	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.677	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	25	0	0	0	1	0	3	25				
LINC00971	440970	broad.mit.edu	37	3	84741479	84741480	+	lincRNA	INS	-	-	AA	rs113631216|rs397947470|rs71104976|rs201978588	byFrequency	TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:84741479_84741480insAA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		ACCTGTCCCAGAAAAAAAAAAA	0.386																																						ENST00000484892.1																			0																																																			0							g.chr3:84741479_84741480insAA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741488_84741489dupAA								NR_033860.1						0	2354	-									RNA	INS	ENST00000484892.1	37																																																																																						0.386	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			2	4						2	4	---	---	---	---
LOC100507391	100507391	broad.mit.edu	37	3	194478104	194478104	+	lincRNA	DEL	C	C	-			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr3:194478104delC	ENST00000423318.1	+	0	940					NR_037891.1																						CTACACGCTGCCCCAGGGGTA	0.622																																						ENST00000423318.1																			0																																																			0							g.chr3:194478104delC																													3.37:g.194478104delC								NR_037891.1						0	940	+									RNA	DEL	ENST00000423318.1	37																																																																																						0.622	AC090505.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000342738.1			2	4						2	4	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(142-144)gccfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388441_1388442insCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	Exception_encountered	4.37:g.1388441_1388442insCG	ENSP00000323978:p.Met48fs						p.A48fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3102_3103	+			48					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.142_143insCG	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	598						8	598	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315944	48315944	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr7:48315944delA	ENST00000435803.1	+	17	6705	c.6681delA	c.(6679-6681)ttafs	p.L2227fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2227					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTGGAACTTAAATGATACTG	0.348																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(6679-6681)ttfs		ATP-binding cassette, sub-family A (ABC1), member 13							24.0	22.0	23.0					7																	48315944		1825	4084	5909	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315944delA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6681delA	7.37:g.48315944delA	ENSP00000411096:p.Leu2227fs						p.L2227fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	6705	+			2227					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.6681delA	CCDS47584.1																																																																																				0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		2	4						2	4	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		53	337						53	337	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	5						4	5	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs542749146|rs374461730|rs57620493		TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388																																						ENST00000548261.1																			0																																																			0							g.chr14:20138376delG																													14.37:g.20138376delG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			3	3						3	3	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	9						4	9	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		88	42						88	42	---	---	---	---
C21orf58	54058	broad.mit.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144178764|rs112899928|rs35902237|rs71318063	byFrequency	TCGA-DJ-A3VI-01A-11D-A23M-08	TCGA-DJ-A3VI-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ed007d5-19d3-47c8-8c00-463e6be91687	f3358525-8de5-4245-b89b-fd0be1e1d13e	g.chr21:47721985_47721986insTGG	ENST00000291691.7	-	8	2032_2033	c.896_897insCCA	c.(895-897)cat>caCCAt	p.299_299H>HH	C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HH	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	299	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708														1382	0.275958	0.1384	0.4063	5008	,	,		16708	0.3046		0.3091	False		,,,				2504	0.3057					ENST00000291691.7																			3	Insertion - In frame(3)	p.H299_A300insH(3)	breast(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9						c.(895-897)cgc>cCCAgc		chromosome 21 open reading frame 58																																				SO:0001652	inframe_insertion	54058							g.chr21:47721985_47721986insTGG		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.894_896dupCCA	21.37:g.47721992_47721994dupTGG	ENSP00000291691:p.His299dup					C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193R>PS	p.299_299R>PS	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN		Colorectal(79;0.239)	8	2032_2033	-	Breast(49;0.112)		299			Poly-His.		B3KPI1	In_Frame_Ins	INS	ENST00000291691.7	37	c.896_897insCCA	CCDS13735.1																																																																																				0.708	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1	NM_058180		4	4						4	4	---	---	---	---
