#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
SRSF12	135295	broad.mit.edu	37	6	89808601	89808601	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:89808601G>C	ENST00000452027.2	-	5	675	c.482C>G	c.(481-483)tCt>tGt	p.S161C		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	161	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						TGCTGAGGTAGACCGCCTTGG	0.428																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(481-483)tCt>tGt		serine/arginine-rich splicing factor 12							237.0	223.0	228.0					6																	89808601		1874	4104	5978	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89808601G>C	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.482C>G	6.37:g.89808601G>C	ENSP00000414302:p.Ser161Cys						p.S161C	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			5	675	-			161			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.482C>G	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837994	0.71373	.	.	ENSG00000154548	ENST00000452027	T	0.09255	3.0	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000004	T	0.22205	0.0535	L	0.57536	1.79	0.37339	D	0.910296	D	0.76494	0.999	D	0.74674	0.984	T	0.00583	-1.1659	10	0.66056	D	0.02	.	17.4794	0.87669	0.0:0.0:1.0:0.0	.	161	Q8WXF0	SRS12_HUMAN	C	161	ENSP00000414302:S161C	ENSP00000414302:S161C	S	-	2	0	SRSF12	89865320	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.541000	0.53618	2.663000	0.90544	0.585000	0.79938	TCT		0.428	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		44	123	0	0	0	1	0	44	123				
FMR1	2332	broad.mit.edu	37	X	147026458	147026458	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:147026458C>T	ENST00000370475.4	+	15	1669	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	FMR1_ENST00000370471.3_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.S493L|FMR1_ENST00000440235.2_Missense_Mutation_p.S161L|FMR1_ENST00000439526.2_Missense_Mutation_p.S491L|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.S481L|FMR1-IT1_ENST00000441414.1_RNA	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	514	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATTGGTCATTAGCTCCA	0.493									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1477-1479)tCa>tTa		fragile X mental retardation 1							63.0	56.0	58.0					X																	147026458		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026458C>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1541C>T	X.37:g.147026458C>T	ENSP00000359506:p.Ser514Leu					FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370475.4_Missense_Mutation_p.S514L|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000440235.2_Missense_Mutation_p.S161L|FMR1_ENST00000439526.2_Missense_Mutation_p.S491L|FMR1_ENST00000370477.1_Missense_Mutation_p.S481L	p.S493L	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			14	1707	+	Acute lymphoblastic leukemia(192;6.56e-05)		514			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1478C>T	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332865	0.81801	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000440235	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.999;0.996	D;D;D;D	0.91635	0.985;0.999;0.997;0.99	T	0.55717	-0.8097	10	0.48119	T	0.1	-18.9429	18.1587	0.89702	0.0:1.0:0.0:0.0	.	161;514;409;491	F8W871;Q06787;Q59GC1;G3V0J0	.;FMR1_HUMAN;.;.	L	493;481;514;491;161	ENSP00000218200:S493L;ENSP00000359508:S481L;ENSP00000359506:S514L;ENSP00000395923:S491L;ENSP00000413764:S161L	ENSP00000218200:S493L	S	+	2	0	FMR1	146834150	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.218000	0.77991	2.512000	0.84698	0.594000	0.82650	TCA		0.493	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		8	21	0	0	0	1	0	8	21				
RP11-556N21.1	0	broad.mit.edu	37	13	25144833	25144833	+	RNA	SNP	A	A	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr13:25144833A>G	ENST00000453498.1	+	0	374																											GGAGCCGCAAATATGGGAACT	0.443																																						ENST00000453498.1																			0																																																			0							g.chr13:25144833A>G																													13.37:g.25144833A>G														0	374	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.443	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	25	0	0	0	1	0	3	25				
GABBR1	2550	broad.mit.edu	37	6	29591190	29591190	+	Silent	SNP	T	T	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:29591190T>G	ENST00000377034.4	-	8	1190	c.855A>C	c.(853-855)cgA>cgC	p.R285R	GABBR1_ENST00000355973.3_Silent_p.R168R|GABBR1_ENST00000377012.4_Silent_p.R168R|GABBR1_ENST00000377016.4_Silent_p.R223R|GABBR1_ENST00000376977.3_Silent_p.R285R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	285					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATGGGTGCGTTCGGAAGAAAG	0.562																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(853-855)cgA>cgC		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						149.0	114.0	126.0					6																	29591190		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29591190T>G	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.855A>C	6.37:g.29591190T>G						GABBR1_ENST00000355973.3_Silent_p.R168R|GABBR1_ENST00000376977.3_Silent_p.R285R|GABBR1_ENST00000377016.4_Silent_p.R223R|GABBR1_ENST00000377012.4_Silent_p.R168R	p.R285R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			8	1190	-			285					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.855A>C	CCDS4663.1																																																																																				0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			6	20	0	0	0	1	0	6	20				
IRF3	3661	broad.mit.edu	37	19	50165518	50165518	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:50165518C>T	ENST00000597198.1	-	6	1050	c.669G>A	c.(667-669)ccG>ccA	p.P223P	IRF3_ENST00000601291.1_Silent_p.P223P|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Silent_p.P77P|IRF3_ENST00000593922.1_Silent_p.P77P|IRF3_ENST00000377139.3_Silent_p.P223P|IRF3_ENST00000599144.1_Silent_p.P77P|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000309877.7_Silent_p.P223P|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000600911.1_Silent_p.P223P|IRF3_ENST00000596765.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	223	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GCAGGCCCTCCGGGCAGGAGA	0.657																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(667-669)ccG>ccA		interferon regulatory factor 3							36.0	42.0	40.0					19																	50165518		2203	4299	6502	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165518C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.669G>A	19.37:g.50165518C>T						IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377139.3_Silent_p.P223P|IRF3_ENST00000600911.1_Silent_p.P223P|IRF3_ENST00000593922.1_Silent_p.P77P|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000309877.7_Silent_p.P223P|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Silent_p.P77P|IRF3_ENST00000601291.1_Silent_p.P223P|IRF3_ENST00000598808.1_Silent_p.P77P	p.P223P			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1050	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	223			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Silent	SNP	ENST00000597198.1	37	c.669G>A	CCDS12775.1																																																																																				0.657	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		4	30	0	0	0	1	0	4	30				
RRAGD	58528	broad.mit.edu	37	6	90082246	90082246	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:90082246G>T	ENST00000369415.4	-	6	1237	c.961C>A	c.(961-963)Ctt>Att	p.L321I	RRAGD_ENST00000359203.3_Missense_Mutation_p.L170I	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		GTATTATTAAGCTTTATGATG	0.398											OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(961-963)Ctt>Att		Ras-related GTP binding D							109.0	113.0	112.0					6																	90082246		2203	4300	6503	SO:0001583	missense	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90082246G>T	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.961C>A	6.37:g.90082246G>T	ENSP00000358423:p.Leu321Ile		OREG0017567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1272	RRAGD_ENST00000359203.2_Missense_Mutation_p.L170I	p.L321I	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	6	1237	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	321						Missense_Mutation	SNP	ENST00000369415.4	37	c.961C>A	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402279	0.62288	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	4.86	2.07	0.26955	.	0.000000	0.64402	D	0.000001	T	0.61825	0.2378	M	0.82323	2.585	0.58432	D	0.999998	D	0.60575	0.988	P	0.59487	0.858	T	0.66268	-0.5966	9	0.72032	D	0.01	-16.459	9.0447	0.36338	0.3036:0.0:0.6964:0.0	.	321	Q9NQL2	RRAGD_HUMAN	I	321;170	.	ENSP00000352131:L170I	L	-	1	0	RRAGD	90138965	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.854000	0.48325	0.468000	0.27243	0.563000	0.77884	CTT		0.398	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		13	30	1	0	4.3838e-07	1	4.59255e-07	13	30				
DHCR24	1718	broad.mit.edu	37	1	55349397	55349397	+	Missense_Mutation	SNP	C	C	T	rs387906939		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:55349397C>T	ENST00000371269.3	-	2	379	c.281G>A	c.(280-282)cGc>cAc	p.R94H	DHCR24_ENST00000535035.1_Missense_Mutation_p.R53H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	94	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CCAGCCAGGGCGCCCCGTGCA	0.562																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(280-282)cGc>cAc		24-dehydrocholesterol reductase							194.0	166.0	176.0					1																	55349397		2203	4300	6503	SO:0001583	missense	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55349397C>T	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.281G>A	1.37:g.55349397C>T	ENSP00000360316:p.Arg94His					DHCR24_ENST00000535035.1_Missense_Mutation_p.R53H	p.R94H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			2	379	-			94			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	ENST00000371269.3	37	c.281G>A	CCDS600.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448084	0.96205	.	.	ENSG00000116133	ENST00000539536;ENST00000371269;ENST00000535035	D;D	0.94537	-2.05;-3.45	5.25	5.25	0.73442	FAD-binding, type 2 (2);	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98633	1.0672	10	0.66056	D	0.02	-6.311	18.8672	0.92298	0.0:1.0:0.0:0.0	.	53;94	B7Z817;Q15392	.;DHC24_HUMAN	H	94;94;53	ENSP00000360316:R94H;ENSP00000440191:R53H	ENSP00000360316:R94H	R	-	2	0	DHCR24	55121985	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.818000	0.86416	2.467000	0.83353	0.655000	0.94253	CGC		0.562	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		22	75	0	0	0	1	0	22	75				
ANAPC7	51434	broad.mit.edu	37	12	110812081	110812081	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:110812081C>T	ENST00000455511.3	-	11	1668	c.1668G>A	c.(1666-1668)gaG>gaA	p.E556E	ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	556					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CCGTGGGACTCTCCTCCTTCT	0.577																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(1666-1668)gaG>gaA		anaphase promoting complex subunit 7							134.0	104.0	114.0					12																	110812081		2203	4300	6503	SO:0001819	synonymous_variant	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110812081C>T	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1668G>A	12.37:g.110812081C>T						ANAPC7_ENST00000481473.1_5'UTR	p.E556E	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			11	1668	-			556					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Silent	SNP	ENST00000455511.3	37	c.1668G>A	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	C	9.405	1.079000	0.20227	.	.	ENSG00000196510	ENST00000552087	.	.	.	5.88	5.88	0.94601	.	0.089296	0.85682	N	0.000000	T	0.36110	0.0955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20075	-1.0286	6	0.06365	T	0.9	-29.7449	11.1882	0.48669	0.0:0.8901:0.0:0.1099	.	.	.	.	K	106	.	ENSP00000450293:E106K	E	-	1	0	ANAPC7	109296464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.476000	0.45171	2.797000	0.96272	0.561000	0.74099	GAG		0.577	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		3	28	0	0	0	1	0	3	28				
SLITRK6	84189	broad.mit.edu	37	13	86370229	86370229	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr13:86370229C>T	ENST00000400286.2	-	2	1013	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	139					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCAGGAATTCCAGGTTTTCC	0.363																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(415-417)Gaa>Aaa		SLIT and NTRK-like family, member 6							111.0	104.0	106.0					13																	86370229		1837	4083	5920	SO:0001583	missense	84189					integral to membrane		g.chr13:86370229C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.415G>A	13.37:g.86370229C>T	ENSP00000383143:p.Glu139Lys						p.E139K	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1013	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		139					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.415G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472755	0.84640	.	.	ENSG00000184564	ENST00000400286	T	0.55052	0.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	N	0.21448	0.665	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.61845	-0.6979	10	0.49607	T	0.09	-20.2109	19.4432	0.94831	0.0:1.0:0.0:0.0	.	139	Q9H5Y7	SLIK6_HUMAN	K	139	ENSP00000383143:E139K	ENSP00000383143:E139K	E	-	1	0	SLITRK6	85268230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.363	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		11	94	0	0	0	1	0	11	94				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	58	0	0	0	1	0	4	58				
LOC101929950	101929950	broad.mit.edu	37	17	36365172	36365172	+	Silent	SNP	C	C	T	rs199974327		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr17:36365172C>T	ENST00000312412.4	-	4	422	c.423G>A	c.(421-423)acG>acA	p.T141T	RP11-1407O15.2_ENST00000544906.1_5'UTR																kidney(1)|lung(3)	4						TTAAGGTTCCCGTACCTGTGA	0.348																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(421-423)acG>acA																																						SO:0001819	synonymous_variant	0							g.chr17:36365172C>T																												ENST00000312412.4:c.423G>A	17.37:g.36365172C>T						RP11-1407O15.2_ENST00000544906.1_5'UTR	p.T141T							4	422	-									Silent	SNP	ENST00000312412.4	37	c.423G>A		.	.	.	.	.	.	.	.	.	.	C	4.325	0.059692	0.08339	.	.	ENSG00000174093	ENST00000523089	.	.	.	2.81	1.58	0.23477	.	.	.	.	.	T	0.39118	0.1066	.	.	.	.	.	.	.	.	.	.	.	.	T	0.44406	-0.9330	3	.	.	.	.	5.892	0.18919	0.0:0.3225:0.0:0.6775	.	.	.	.	R	133	.	.	G	-	1	0	RP11-1407O15.2	33618978	0.168000	0.22989	1.000000	0.80357	0.144000	0.21451	-0.704000	0.05058	0.305000	0.22832	-1.050000	0.02344	GGG		0.348	RP11-1407O15.2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	26	0	0	0	1	0	4	26				
TMEM132D	121256	broad.mit.edu	37	12	130184920	130184920	+	Missense_Mutation	SNP	G	G	A	rs138159153		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:130184920G>A	ENST00000422113.2	-	2	729	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	135					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.R135R(1)		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)		ACTTTGTCCCGCAGGATGTGG	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16904	0.0		0.0	False		,,,				2504	0.0					ENST00000422113.2																			1	Substitution - coding silent(1)	p.R135R(1)	lung(1)	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.(403-405)Cgg>Tgg		transmembrane protein 132D							43.0	43.0	43.0					12																	130184920		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184920G>A	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.403C>T	12.37:g.130184920G>A	ENSP00000408581:p.Arg135Trp						p.R135W	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)	2	729	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	135					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.403C>T	CCDS9266.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	12.19	1.862136	0.32884	.	.	ENSG00000151952	ENST00000422113	T	0.43688	0.94	5.33	3.29	0.37713	.	0.724775	0.12196	N	0.490699	T	0.35740	0.0942	L	0.55481	1.735	0.27218	N	0.959742	D	0.60160	0.987	P	0.46825	0.528	T	0.20907	-1.0261	9	.	.	.	-20.9295	11.7955	0.52098	0.0:0.0:0.4054:0.5946	.	135	Q14C87	T132D_HUMAN	W	135	ENSP00000408581:R135W	.	R	-	1	2	TMEM132D	128750873	0.988000	0.35896	0.978000	0.43139	0.536000	0.34869	3.137000	0.50562	1.197000	0.43143	0.555000	0.69702	CGG		0.537	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	23	0	0	0	1	0	7	23				
ZNF362	149076	broad.mit.edu	37	1	33745738	33745738	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:33745738C>T	ENST00000539719.1	+	5	533	c.363C>T	c.(361-363)tcC>tcT	p.S121S	ZNF362_ENST00000373428.5_Silent_p.S121S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGGCTGTCCACCCGGACCC	0.687																																					Pancreas(162;1431 2676 35353 38425)	ENST00000539719.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(361-363)tcC>tcT		zinc finger protein 362							22.0	28.0	26.0					1																	33745738		2198	4291	6489	SO:0001819	synonymous_variant	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745738C>T		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.363C>T	1.37:g.33745738C>T						ZNF362_ENST00000373428.5_Silent_p.S121S	p.S121S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN			5	533	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	121					Q8WYU4	Silent	SNP	ENST00000539719.1	37	c.363C>T	CCDS377.1																																																																																				0.687	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		11	33	0	0	0	1	0	11	33				
FBXL2	25827	broad.mit.edu	37	3	33420177	33420177	+	Splice_Site	SNP	A	A	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:33420177A>G	ENST00000484457.1	+	13	986	c.895A>G	c.(895-897)Ata>Gta	p.I299V	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Splice_Site_p.I9V|FBXL2_ENST00000538892.1_Splice_Site_p.I231V|FBXL2_ENST00000507198.1_Splice_Site_p.I231V|FBXL2_ENST00000542085.1_Splice_Site_p.I9V|FBXL2_ENST00000538181.1_Splice_Site_p.I215V	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTCTCTCCAGATAACCGACAG	0.428																																						ENST00000484457.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.e13-1		F-box and leucine-rich repeat protein 2							186.0	159.0	168.0					3																	33420177		2203	4300	6503	SO:0001630	splice_region_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33420177A>G	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.895-1A>G	3.37:g.33420177A>G						FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_Splice_Site_p.I9_splice|FBXL2_ENST00000542085.1_Splice_Site_p.I9_splice|FBXL2_ENST00000538892.1_Splice_Site_p.I231_splice|FBXL2_ENST00000507198.1_Splice_Site_p.I231_splice|FBXL2_ENST00000538181.1_Splice_Site_p.I215_splice	p.I299_splice	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			13	986	+			299						Splice_Site	SNP	ENST00000484457.1	37	c.894_splice	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850473	0.32699	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000538181;ENST00000446237;ENST00000507198;ENST00000542085	T;T;T;T;T;T	0.17691	4.2;4.2;4.2;2.26;4.2;3.42	4.56	4.56	0.56223	.	0.114031	0.64402	D	0.000012	T	0.13756	0.0333	L	0.31294	0.92	0.48087	D	0.999583	B;B;B	0.13594	0.007;0.007;0.008	B;B;B	0.20384	0.029;0.029;0.009	T	0.08086	-1.0739	9	.	.	.	.	14.6801	0.69012	1.0:0.0:0.0:0.0	.	215;194;299	B4E1B8;B4DMM3;Q9UKC9	.;.;FBXL2_HUMAN	V	299;231;215;9;231;9	ENSP00000417601:I299V;ENSP00000441228:I231V;ENSP00000440794:I215V;ENSP00000389251:I9V;ENSP00000426163:I231V;ENSP00000445039:I9V	.	I	+	1	0	FBXL2	33395181	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.446000	0.52928	1.995000	0.58328	0.529000	0.55759	ATA		0.428	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	Missense_Mutation	13	29	0	0	0	1	0	13	29				
HOXA1	3198	broad.mit.edu	37	7	27134894	27134894	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:27134894T>C	ENST00000343060.4	-	1	699	c.638A>G	c.(637-639)aAc>aGc	p.N213S	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	213					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTGGGAGGGTTTCTTTTGAC	0.488																																						ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(637-639)aAc>aGc		homeobox A1							46.0	53.0	50.0					7																	27134894		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134894T>C		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.638A>G	7.37:g.27134894T>C	ENSP00000343246:p.Asn213Ser					HOXA1_ENST00000355633.5_3'UTR	p.N213S	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	699	-			213					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.638A>G	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657009	0.67586	.	.	ENSG00000105991	ENST00000343060	D	0.90563	-2.69	5.01	5.01	0.66863	.	0.192452	0.53938	D	0.000054	D	0.95564	0.8558	M	0.86805	2.84	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.96277	0.9203	10	0.87932	D	0	.	14.551	0.68068	0.0:0.0:0.0:1.0	.	213	P49639	HXA1_HUMAN	S	213	ENSP00000343246:N213S	ENSP00000343246:N213S	N	-	2	0	HOXA1	27101419	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.265000	0.78442	2.110000	0.64415	0.459000	0.35465	AAC		0.488	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			5	31	0	0	0	1	0	5	31				
KRAS	3845	broad.mit.edu	37	12	25380277	25380277	+	Missense_Mutation	SNP	G	G	T	rs121913238		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380277G>T	ENST00000256078.4	-	3	244	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61K|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(32)|p.Q61E(10)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTG	0.413	Q61K(CALU6_LUNG)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61K(CALU6_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	42	Substitution - Missense(42)	p.Q61K(32)|p.Q61E(10)	large_intestine(13)|lung(11)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(3)|urinary_tract(2)|prostate(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|kidney(1)|pancreas(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)Caa>Aaa		Kirsten rat sarcoma viral oncogene homolog							109.0	97.0	101.0					12																	25380277		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380277G>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.181C>A	12.37:g.25380277G>T	ENSP00000256078:p.Gln61Lys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61K	p.Q61K	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	372	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.181C>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341837	0.81911	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83506	-1.73;-1.73	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.89100	0.6619	M	0.93808	3.46	0.80722	D	1	B;B	0.24768	0.111;0.039	B;B	0.29663	0.058;0.105	D	0.87412	0.2376	10	0.62326	D	0.03	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	K	61	ENSP00000308495:Q61K;ENSP00000256078:Q61K	ENSP00000256078:Q61K	Q	-	1	0	KRAS	25271544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.885000	0.99019	0.655000	0.94253	CAA		0.413	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		10	24	1	0	2.17888e-05	1	2.22955e-05	10	24				
ZNF467	168544	broad.mit.edu	37	7	149462027	149462027	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:149462027G>A	ENST00000302017.3	-	5	1977	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGAAGCTGCGGGCGCAGACG	0.701																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(1564-1566)Cgc>Tgc		zinc finger protein 467							32.0	38.0	36.0					7																	149462027		2195	4293	6488	SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462027G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1564C>T	7.37:g.149462027G>A	ENSP00000304769:p.Arg522Cys					ZNF467_ENST00000484747.1_Intron	p.R522C	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1977	-	Melanoma(164;0.165)|Ovarian(565;0.177)		522						Missense_Mutation	SNP	ENST00000302017.3	37	c.1564C>T	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542809	0.65198	.	.	ENSG00000181444	ENST00000302017	T	0.16196	2.36	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.276112	0.19252	U	0.118891	T	0.38081	0.1027	M	0.72894	2.215	0.45648	D	0.998579	D	0.89917	1.0	D	0.75484	0.986	T	0.18650	-1.0330	10	0.87932	D	0	-11.9164	10.3651	0.44019	0.0:0.0:0.6817:0.3183	.	522	Q7Z7K2	ZN467_HUMAN	C	522	ENSP00000304769:R522C	ENSP00000304769:R522C	R	-	1	0	ZNF467	149092960	0.921000	0.31238	1.000000	0.80357	0.987000	0.75469	2.044000	0.41241	1.989000	0.58080	0.462000	0.41574	CGC		0.701	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		5	18	0	0	0	1	0	5	18				
MRS2	57380	broad.mit.edu	37	6	24416723	24416723	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr6:24416723G>C	ENST00000378386.3	+	7	911	c.818G>C	c.(817-819)tGg>tCg	p.W273S	MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.W223S|MRS2_ENST00000443868.2_Missense_Mutation_p.W276S|MRS2_ENST00000378353.1_Missense_Mutation_p.W273S|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	273						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GTATCAAAATGGAGTGACCCA	0.318																																						ENST00000378386.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(817-819)tGg>tCg		MRS2 magnesium transporter							80.0	91.0	87.0					6																	24416723		2203	4292	6495	SO:0001583	missense	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24416723G>C	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.818G>C	6.37:g.24416723G>C	ENSP00000367637:p.Trp273Ser					MRS2_ENST00000443868.2_Missense_Mutation_p.W276S|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.W223S|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Missense_Mutation_p.W273S|MRS2_ENST00000483634.1_3'UTR	p.W273S	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN			7	911	+			273					A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	c.818G>C	CCDS4552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.51|14.51	2.556537|2.556537	0.45487|0.45487	.|.	.|.	ENSG00000124532|ENSG00000124532	ENST00000446191|ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	.|T;T;T;T	.|0.42131	.|1.56;1.54;0.98;1.51	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.137763	.|0.56097	.|D	.|0.000025	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.69078	.|0.997;0.951;0.989;0.921	.|P;P;P;B	.|0.62298	.|0.9;0.675;0.843;0.36	T|T	0.20538|0.20538	-1.0272|-1.0272	5|10	.|0.46703	.|T	.|0.11	-17.5816|-17.5816	12.8395|12.8395	0.57793|0.57793	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	.|223;276;273;273	.|F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.|.;.;MRS2_HUMAN;.	R|S	92|223;273;273;276	.|ENSP00000441839:W223S;ENSP00000367637:W273S;ENSP00000367604:W273S;ENSP00000399585:W276S	.|ENSP00000367604:W273S	G|W	+|+	1|2	0|0	MRS2|MRS2	24524702|24524702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.620000|0.620000	0.37586|0.37586	7.592000|7.592000	0.82676|0.82676	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.318	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			17	61	0	0	0	1	0	17	61				
VN1R2	317701	broad.mit.edu	37	19	53762045	53762045	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:53762045C>T	ENST00000341702.3	+	1	501	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	139					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCTTGGTTATCCTATCTAAAA	0.383																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(415-417)atC>atT		vomeronasal 1 receptor 2							77.0	80.0	79.0					19																	53762045		2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762045C>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.417C>T	19.37:g.53762045C>T							p.I139I	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	501	+			139					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.417C>T	CCDS12862.1																																																																																				0.383	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		11	36	0	0	0	1	0	11	36				
OR8D1	283159	broad.mit.edu	37	11	124180036	124180036	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr11:124180036C>T	ENST00000357821.2	-	1	697	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTAGGGTGGGCACCAAGGTGT	0.498																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(625-627)gtG>gtA		olfactory receptor, family 8, subfamily D, member 1							57.0	45.0	49.0					11																	124180036		2201	4299	6500	SO:0001819	synonymous_variant	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180036C>T	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.627G>A	11.37:g.124180036C>T							p.V209V	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	697	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	209					B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	ENST00000357821.2	37	c.627G>A	CCDS31706.1																																																																																				0.498	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		5	32	0	0	0	1	0	5	32				
EIF1AX	1964	broad.mit.edu	37	X	20148726	20148726	+	Splice_Site	SNP	C	C	G			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chrX:20148726C>G	ENST00000379607.5	-	6	541		c.e6-1		EIF1AX_ENST00000379593.1_Splice_Site	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTGATTTTAGCTAAGGACACA	0.313																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.e6-1		eukaryotic translation initiation factor 1A, X-linked							143.0	117.0	126.0					X																	20148726		2203	4297	6500	SO:0001630	splice_region_variant	1964					cytosol	translation initiation factor activity	g.chrX:20148726C>G	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.338-1G>C	X.37:g.20148726C>G						EIF1AX_ENST00000379593.1_Splice_Site		NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			6	541	-								B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37		CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742404	0.69418	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1934	0.73063	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF1AX	20058647	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.770000	0.74990	2.025000	0.59659	0.594000	0.82650	.		0.313	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		Intron	7	32	0	0	0	1	0	7	32				
ELTD1	64123	broad.mit.edu	37	1	79383543	79383543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:79383543C>A	ENST00000370742.3	-	11	1717	c.1654G>T	c.(1654-1656)Gga>Tga	p.G552*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	552					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTATCCTAGTGCTGCC	0.358																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1654-1656)Gga>Tga		EGF, latrophilin and seven transmembrane domain containing 1							135.0	134.0	135.0					1																	79383543		1853	4094	5947	SO:0001587	stop_gained	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383543C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1654G>T	1.37:g.79383543C>A	ENSP00000359778:p.Gly552*						p.G552*	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	11	1717	-			552					B1AR71|Q5KU34	Nonsense_Mutation	SNP	ENST00000370742.3	37	c.1654G>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	40	8.433112	0.98808	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	.	.	.	5.79	4.87	0.63330	.	0.051139	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1351	0.72558	0.0:0.9313:0.0:0.0687	.	.	.	.	X	552;10	.	.	G	-	1	0	ELTD1	79156131	1.000000	0.71417	0.981000	0.43875	0.846000	0.48090	6.082000	0.71318	2.749000	0.94314	0.491000	0.48974	GGA		0.358	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		4	82	1	0	0.00024832	1	0.00024832	4	82				
CRTC2	200186	broad.mit.edu	37	1	153924016	153924016	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:153924016G>A	ENST00000368633.1	-	11	1251	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	CRTC2_ENST00000368630.3_Missense_Mutation_p.S55F|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	375	Ser-rich.				gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.S375F(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCAAGGAGGAGGCAGGCAG	0.642																																						ENST00000368633.1																			1	Substitution - Missense(1)	p.S375F(1)	skin(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1123-1125)tCc>tTc		CREB regulated transcription coactivator 2							54.0	59.0	58.0					1																	153924016		2202	4300	6502	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924016G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1124C>T	1.37:g.153924016G>A	ENSP00000357622:p.Ser375Phe					CRTC2_ENST00000368630.3_Missense_Mutation_p.S55F	p.S375F	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1251	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		375			Ser-rich.		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1124C>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544338	0.65198	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.48201	0.82;2.65	4.63	4.63	0.57726	.	0.538685	0.19321	N	0.117131	T	0.54481	0.1861	L	0.57536	1.79	0.42541	D	0.993078	D	0.69078	0.997	D	0.63597	0.916	T	0.55952	-0.8059	10	0.52906	T	0.07	-14.715	15.0183	0.71605	0.0:0.0:1.0:0.0	.	375	Q53ET0	CRTC2_HUMAN	F	55;375	ENSP00000357619:S55F;ENSP00000357622:S375F	ENSP00000357619:S55F	S	-	2	0	CRTC2	152190640	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	5.617000	0.67716	2.396000	0.81511	0.557000	0.71058	TCC		0.642	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		6	38	0	0	0	1	0	6	38				
CYTH1	9267	broad.mit.edu	37	17	76697789	76697789	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr17:76697789T>A	ENST00000446868.3	-	6	471	c.401A>T	c.(400-402)cAt>cTt	p.H134L	CYTH1_ENST00000591455.1_Missense_Mutation_p.H134L|CYTH1_ENST00000589297.1_Missense_Mutation_p.H75L|CYTH1_ENST00000585509.1_Missense_Mutation_p.H75L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000361101.4_Missense_Mutation_p.H134L			Q15438	CYH1_HUMAN	cytohesin 1	134	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AGTGAACTCATGCAGCTCCAC	0.463																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(223-225)cAt>cTt		cytohesin 1							153.0	153.0	153.0					17																	76697789		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76697789T>A	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.401A>T	17.37:g.76697789T>A	ENSP00000389095:p.His134Leu					CYTH1_ENST00000446868.3_Missense_Mutation_p.H134L|CYTH1_ENST00000361101.4_Missense_Mutation_p.H134L|CYTH1_ENST00000591455.1_Missense_Mutation_p.H134L|CYTH1_ENST00000585509.1_Missense_Mutation_p.H75L|CYTH1_ENST00000589296.1_Intron	p.H75L			Q15438	CYH1_HUMAN			6	916	-			134			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.224A>T		.	.	.	.	.	.	.	.	.	.	T	15.48	2.847394	0.51164	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000434577;ENST00000416418	T;T	0.52754	0.65;0.65	4.95	4.95	0.65309	SEC7-like (4);	0.092214	0.85682	D	0.000000	T	0.47248	0.1435	L	0.49126	1.545	0.80722	D	1	B;P	0.39520	0.115;0.676	B;P	0.45712	0.208;0.491	T	0.34800	-0.9814	10	0.09338	T	0.73	.	14.6307	0.68653	0.0:0.0:0.0:1.0	.	134;134	Q15438;Q15438-2	CYH1_HUMAN;.	L	134;134;75;75;134;145;136	ENSP00000389095:H134L;ENSP00000354398:H134L	ENSP00000262763:H134L	H	-	2	0	CYTH1	74209384	1.000000	0.71417	0.370000	0.25965	0.518000	0.34316	7.928000	0.87587	1.842000	0.53543	0.460000	0.39030	CAT		0.463	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		6	83	0	0	0	1	0	6	83				
COL5A3	50509	broad.mit.edu	37	19	10079134	10079134	+	Missense_Mutation	SNP	G	G	A	rs199706331		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:10079134G>A	ENST00000264828.3	-	59	4326	c.4241C>T	c.(4240-4242)cCg>cTg	p.P1414L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGCTTCTCCCGGGGGGCCAAT	0.592																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4240-4242)cCg>cTg		collagen, type V, alpha 3							88.0	99.0	96.0					19																	10079134		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10079134G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4241C>T	19.37:g.10079134G>A	ENSP00000264828:p.Pro1414Leu						p.P1414L	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		59	4326	-			1414			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4241C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345327	0.41498	.	.	ENSG00000080573	ENST00000264828	D	0.97731	-4.51	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	D	0.96522	0.8865	M	0.86953	2.85	0.80722	D	1	P	0.51653	0.947	B	0.34931	0.192	D	0.96778	0.9573	10	0.62326	D	0.03	.	13.9481	0.64099	0.0:0.0:1.0:0.0	.	1414	P25940	CO5A3_HUMAN	L	1414	ENSP00000264828:P1414L	ENSP00000264828:P1414L	P	-	2	0	COL5A3	9940134	1.000000	0.71417	0.991000	0.47740	0.097000	0.18754	7.142000	0.77339	2.132000	0.65825	0.591000	0.81541	CCG		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		15	82	0	0	0	1	0	15	82				
PROS1	5627	broad.mit.edu	37	3	93595969	93595969	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr3:93595969G>T	ENST00000394236.3	-	14	2027	c.1711C>A	c.(1711-1713)Caa>Aaa	p.Q571K	PROS1_ENST00000407433.1_Missense_Mutation_p.Q440K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	571	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGAGATTGTTGATCGGAACAT	0.373																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1711-1713)Caa>Aaa		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						106.0	99.0	101.0					3																	93595969		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93595969G>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1711C>A	3.37:g.93595969G>T	ENSP00000377783:p.Gln571Lys					PROS1_ENST00000407433.1_Missense_Mutation_p.Q440K	p.Q571K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			14	2027	-			571			Laminin G-like 2.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1711C>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726621	0.15439	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78126	-1.15;-1.15	4.86	1.82	0.25136	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.402484	0.27375	N	0.019644	T	0.70979	0.3286	M	0.62723	1.935	0.09310	N	1	B	0.28128	0.201	B	0.31245	0.126	T	0.57458	-0.7808	10	0.25106	T	0.35	.	8.5651	0.33534	0.0:0.27:0.4799:0.2501	.	571	P07225	PROS_HUMAN	K	571;440	ENSP00000377783:Q571K;ENSP00000385794:Q440K	ENSP00000377783:Q571K	Q	-	1	0	PROS1	95078659	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	1.235000	0.32671	0.600000	0.29862	0.555000	0.69702	CAA		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		9	34	1	0	5.4927e-09	1	5.89461e-09	9	34				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	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		5	35	0	0	0	1	0	5	35				
GTPBP4	23560	broad.mit.edu	37	10	1046799	1046799	+	Silent	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:1046799C>T	ENST00000360803.4	+	7	919	c.837C>T	c.(835-837)ttC>ttT	p.F279F	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.F163F|GTPBP4_ENST00000545048.1_Silent_p.F232F	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	279	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GACCTCTCTTCATCAACAAGG	0.463																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(835-837)ttC>ttT		GTP binding protein 4							222.0	215.0	218.0					10																	1046799		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1046799C>T	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.837C>T	10.37:g.1046799C>T						GTPBP4_ENST00000545048.1_Silent_p.F232F|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.F163F	p.F279F	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	7	919	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	279					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.837C>T	CCDS31132.1																																																																																				0.463	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		6	75	0	0	0	1	0	6	75				
MCOLN1	57192	broad.mit.edu	37	19	7595248	7595248	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr19:7595248C>T	ENST00000264079.6	+	12	1561	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	479					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGTTCGCCGCCATGCAGGCG	0.602																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1435-1437)gCc>gTc		mucolipin 1							227.0	214.0	219.0					19																	7595248		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595248C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1436C>T	19.37:g.7595248C>T	ENSP00000264079:p.Ala479Val						p.A479V	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1561	+			479					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1436C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170020	0.38315	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.84370	-1.84	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.173686	0.51477	D	0.000093	T	0.77644	0.4161	N	0.24115	0.695	0.30429	N	0.777311	B;P	0.35383	0.126;0.498	B;B	0.40329	0.113;0.326	T	0.74785	-0.3547	10	0.27082	T	0.32	.	11.508	0.50479	0.1792:0.8208:0.0:0.0	.	444;479	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	V	479;444	ENSP00000264079:A479V	ENSP00000264079:A479V	A	+	2	0	MCOLN1	7501248	0.201000	0.23410	0.164000	0.22755	0.892000	0.51952	0.927000	0.28818	2.478000	0.83669	0.563000	0.77884	GCC		0.602	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		14	157	0	0	0	1	0	14	157				
KRAS	3845	broad.mit.edu	37	12	25380278	25380278	+	Silent	SNP	A	A	T	rs397517037		TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:25380278A>T	ENST00000256078.4	-	3	243	c.180T>A	c.(178-180)ggT>ggA	p.G60G	KRAS_ENST00000311936.3_Silent_p.G60G|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	60			G -> R (in CFC2; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors). {ECO:0000269|PubMed:16474404}.|G -> S (in NS3). {ECO:0000269|PubMed:19396835}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(6)|p.G60G(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACTCCTCTTGACCTGCTGTGT	0.413		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	7	Substitution - Missense(6)|Substitution - coding silent(1)	p.Q61K(6)|p.G60G(1)	large_intestine(5)|urinary_tract(1)|lung(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(178-180)ggT>ggA		Kirsten rat sarcoma viral oncogene homolog							108.0	96.0	100.0					12																	25380278		2203	4300	6503	SO:0001819	synonymous_variant	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380278A>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.180T>A	12.37:g.25380278A>T		TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Silent_p.G60G	p.G60G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	371	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		60		G -> R (in CFC syndrome; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors).|G -> S (in NS3).			A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	c.180T>A	CCDS8703.1																																																																																				0.413	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	22	0	0	0	1	0	11	22				
IFRD1	3475	broad.mit.edu	37	7	112112868	112112868	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:112112868G>A	ENST00000403825.3	+	11	1479	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	IFRD1_ENST00000535603.1_Missense_Mutation_p.M356I|IFRD1_ENST00000005558.4_Missense_Mutation_p.M406I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	406				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). {ECO:0000305}.	adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCCCAGTGATGCTTGATGCTG	0.353																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(1216-1218)atG>atA		interferon-related developmental regulator 1							136.0	138.0	137.0					7																	112112868		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112868G>A	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1218G>A	7.37:g.112112868G>A	ENSP00000384477:p.Met406Ile					IFRD1_ENST00000535603.1_Missense_Mutation_p.M356I|IFRD1_ENST00000005558.4_Missense_Mutation_p.M406I	p.M406I	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			11	1479	+			406	LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).				B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.1218G>A	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733902	0.48939	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000462155	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.81	5.81	0.92471	Interferon-related developmental regulator, C-terminal (1);	0.152313	0.64402	D	0.000006	T	0.19685	0.0473	N	0.00926	-1.1	0.53688	D	0.999975	B;B	0.15719	0.014;0.014	B;B	0.20577	0.03;0.03	T	0.21449	-1.0245	10	0.17369	T	0.5	-21.0785	19.6448	0.95771	0.0:0.0:1.0:0.0	.	406;406	A4D0U1;O00458	.;IFRD1_HUMAN	I	406;406;141;356;69	ENSP00000005558:M406I;ENSP00000384477:M406I;ENSP00000439188:M356I;ENSP00000435635:M69I	ENSP00000005558:M406I	M	+	3	0	IFRD1	111900104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.833000	0.69349	2.753000	0.94483	0.637000	0.83480	ATG		0.353	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		7	41	0	0	0	1	0	7	41				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	byFrequency	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr21:11058248G>A	ENST00000470054.1	-	0	399							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							80.0	67.0	71.0					21																	11058248		692	1591	2283			85319							g.chr21:11058248G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058248G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	399	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	67	0	0	0	1	0	7	67				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		9	17						9	17	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		5	8						5	8	---	---	---	---
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC	rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6_ENST00000007660.5_Intron|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6-AS1_ENST00000430027.3_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000605417.1_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		3	6						3	6	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75554317	75554317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:75554317delC	ENST00000605216.1	+	14	3030	c.2813delC	c.(2812-2814)tccfs	p.S938fs	ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S943fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S905fs|ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.S943fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000431225.1_3'UTR	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	938							zinc ion binding (GO:0008270)										CCCACAGGTTCCCGGCCCCCA	0.498																																						ENST00000604729.1																			0											c.(2827-2829)tcfs		zinc finger, SWIM-type containing 8							34.0	34.0	34.0					10																	75554317		1906	4104	6010	SO:0001589	frameshift_variant	23053							g.chr10:75554317delC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2813delC	10.37:g.75554317delC	ENSP00000474748:p.Ser938fs					ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.S943fs|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.S938fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.S905fs	p.S943fs							14	3125	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	37	c.2828delC																																																																																					0.498	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		2	4						2	4	---	---	---	---
GSTO2	119391	broad.mit.edu	37	10	106035045	106035045	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr10:106035045delC	ENST00000338595.2	+	3	416	c.96delC	c.(94-96)tgcfs	p.C32fs	GSTO2_ENST00000369707.2_Frame_Shift_Del_p.C4fs|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000450629.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000401888.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000429569.2_Frame_Shift_Del_p.C4fs	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	32	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGAGGTTCTGCCCCTATTCTC	0.642											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(94-96)tgfs		glutathione S-transferase omega 2	Glutathione(DB00143)						77.0	84.0	82.0					10																	106035045		2203	4300	6503	SO:0001589	frameshift_variant	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106035045delC	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.96delC	10.37:g.106035045delC	ENSP00000345023:p.Cys32fs		OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1393	GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000401888.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000338595.2_Frame_Shift_Del_p.C32fs|GSTO2_ENST00000429569.2_Frame_Shift_Del_p.C4fs|GSTO2_ENST00000369707.1_Frame_Shift_Del_p.C4fs	p.C32fs	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	3	724	+		Colorectal(252;0.178)	32			GST N-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Frame_Shift_Del	DEL	ENST00000338595.2	37	c.96delC	CCDS7556.1																																																																																				0.642	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		9	44						9	44	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718|rs10650892|rs59759240	byFrequency	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307														3185	0.635982	0.7133	0.6095	5008	,	,		11539	0.8284		0.4274	False		,,,				2504	0.5665					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269805_31269806insAAG																													12.37:g.31269805_31269806insAAG														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.307	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			2	4						2	4	---	---	---	---
IGLV3-9	28804	broad.mit.edu	37	22	23161844	23161845	+	RNA	DEL	CC	CC	-	rs72002333	byFrequency	TCGA-EM-A4FV-01A-11D-A257-08	TCGA-EM-A4FV-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c492960-8736-45cb-8849-2d803c968487	72a95a8a-0d7c-4a6f-ada7-c21877f37de5	g.chr22:23161844_23161845delCC	ENST00000390316.2	+	0	161									immunoglobulin lambda variable 3-9 (gene/pseudogene)																		TGCTCATGGTCCCCTGAGGACA	0.554														616	0.123003	0.2451	0.1225	5008	,	,		15703	0.001		0.1491	False		,,,				2504	0.0573					ENST00000390316.2																			0																																																			0							g.chr22:23161844_23161845delCC	X97473		22q11.2	2012-02-08	2008-09-12		ENSG00000211670	ENSG00000211670		"""Immunoglobulins / IGL locus"""	5918	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-9"""				Standard	NG_000002		Approved				OTTHUMG00000151239		22.37:g.23161846_23161847delCC														0	161	+									RNA	DEL	ENST00000390316.2	37																																																																																						0.554	IGLV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321844.1	NG_000002		4	6						4	6	---	---	---	---
