#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
SH3GLB2	56904	broad.mit.edu	37	9	131772101	131772101	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:131772101T>C	ENST00000372564.3	-	9	933	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	263	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)		p.Y263C(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CTGTGCGTAGTAGGTTGTCTG	0.622																																						ENST00000372564.3																			1	Substitution - Missense(1)	p.Y263C(1)	prostate(1)	NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(787-789)tAc>tGc		SH3-domain GRB2-like endophilin B2							73.0	66.0	69.0					9																	131772101		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131772101T>C	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.788A>G	9.37:g.131772101T>C	ENSP00000361645:p.Tyr263Cys					SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C	p.Y263C	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN			9	933	-			263			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.788A>G	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771913	0.90108	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.38	5.38	0.77491	BAR (3);	0.122386	0.56097	D	0.000023	T	0.74275	0.3695	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76575	0.937;0.988	T	0.78924	-0.2012	10	0.87932	D	0	-9.3897	14.8814	0.70537	0.0:0.0:0.0:1.0	.	267;263	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	C	263;263;267;267;263;242	ENSP00000361645:Y263C;ENSP00000361640:Y263C;ENSP00000361634:Y267C;ENSP00000402566:Y263C;ENSP00000388282:Y242C	ENSP00000361634:Y267C	Y	-	2	0	SH3GLB2	130811922	1.000000	0.71417	0.955000	0.39395	0.933000	0.57130	6.105000	0.71505	2.166000	0.68216	0.528000	0.53228	TAC		0.622	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			9	13	0	0	0	1	0	9	13				
ENPP2	5168	broad.mit.edu	37	8	120569893	120569893	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:120569893C>T	ENST00000075322.6	-	25	2518	c.2460G>A	c.(2458-2460)atG>atA	p.M820I	ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I|ENPP2_ENST00000427067.2_Missense_Mutation_p.M841I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	820					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.M872I(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTGCATCTTCATGAGTTCTT	0.463																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			2	Substitution - Missense(2)	p.M872I(2)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2521-2523)atG>atA		ectonucleotide pyrophosphatase/phosphodiesterase 2							208.0	187.0	194.0					8																	120569893		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569893C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2460G>A	8.37:g.120569893C>T	ENSP00000075322:p.Met820Ile					ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I|ENPP2_ENST00000075322.6_Missense_Mutation_p.M820I	p.M841I			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	2703	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		820			Required for secretion (By similarity).		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2523G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543152	0.45280	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.91	-9.18	0.00688	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.357143	0.34853	N	0.003634	T	0.08133	0.0203	N	0.12182	0.205	0.43698	D	0.996155	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.002	T	0.12091	-1.0561	10	0.42905	T	0.14	.	3.9898	0.09532	0.187:0.3603:0.3448:0.1079	.	358;845;820;872;455	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	I	872;841;455;845;820	ENSP00000259486:M872I;ENSP00000403315:M841I;ENSP00000429476:M455I;ENSP00000428291:M845I;ENSP00000075322:M820I	ENSP00000075322:M820I	M	-	3	0	ENPP2	120639074	0.528000	0.26314	0.687000	0.30102	0.984000	0.73092	-0.161000	0.10026	-1.617000	0.01570	-0.136000	0.14681	ATG		0.463	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			7	228	0	0	0	1	0	7	228				
CXCR1	3577	broad.mit.edu	37	2	219028938	219028938	+	Missense_Mutation	SNP	G	G	A	rs140349292	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr2:219028938G>A	ENST00000295683.2	-	2	1117	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	333					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)	p.R333C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	ACACGATGACGTGCCAAGAAC	0.468																																						ENST00000295683.2																			1	Substitution - Missense(1)	p.R333C(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(997-999)Cgt>Tgt		chemokine (C-X-C motif) receptor 1		G	CYS/ARG	0,4406		0,0,2203	132.0	123.0	126.0		997	2.5	0.1	2	dbSNP_134	126	6,8594	5.0+/-18.6	0,6,4294	yes	missense	CXCR1	NM_000634.2	180	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	333/351	219028938	6,13000	2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219028938G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.997C>T	2.37:g.219028938G>A	ENSP00000295683:p.Arg333Cys						p.R333C	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	1117	-			333					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.997C>T	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062193	0.36373	0.0	6.98E-4	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.69040	-0.37	4.29	2.48	0.30137	.	4.122290	0.00166	N	0.000014	T	0.73024	0.3534	L	0.40543	1.245	0.09310	N	0.999999	D	0.76494	0.999	P	0.58266	0.836	T	0.54248	-0.8322	10	0.52906	T	0.07	.	8.1944	0.31387	0.1883:0.0:0.8117:0.0	.	333	P25024	CXCR1_HUMAN	C	333;277	ENSP00000295683:R333C	ENSP00000295683:R333C	R	-	1	0	CXCR1	218737183	0.050000	0.20438	0.128000	0.21923	0.332000	0.28634	0.923000	0.28757	0.381000	0.24851	0.561000	0.74099	CGT		0.468	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		8	107	0	0	0	1	0	8	107				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	163	0	0	0	1	0	4	163				
LEPREL2	10536	broad.mit.edu	37	12	6943175	6943175	+	RNA	SNP	A	A	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:6943175A>C	ENST00000538102.1	+	0	570				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGCTGCTCACCCCAGCCGA	0.582																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2							64.0	73.0	70.0					12																	6943175		2036	4197	6233			10536							g.chr12:6943175A>C	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6943175A>C						LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA		NM_014262.3	NP_055077.2					0	1453	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	SNP	ENST00000538102.1	37			.	.	.	.	.	.	.	.	.	.	A	20.8	4.057177	0.76074	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.69040	-0.37;-0.37	4.72	4.72	0.59763	Prolyl 4-hydroxylase, alpha subunit (1);	0.162937	0.53938	D	0.000053	T	0.78220	0.4249	.	.	.	0.42842	D	0.994051	D	0.63880	0.993	P	0.59288	0.855	T	0.82232	-0.0559	9	0.87932	D	0	-19.5111	14.3584	0.66752	1.0:0.0:0.0:0.0	.	474	Q8IVL6	P3H3_HUMAN	P	473;289	ENSP00000379951:T473P;ENSP00000290510:T289P	ENSP00000290510:T289P	T	+	1	0	LEPREL2	6813436	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.752000	0.62176	1.975000	0.57531	0.459000	0.35465	ACC		0.582	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		8	63	0	0	0	1	0	8	63				
CEP250	11190	broad.mit.edu	37	20	34091637	34091637	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr20:34091637C>G	ENST00000397527.1	+	30	6160	c.5440C>G	c.(5440-5442)Cag>Gag	p.Q1814E	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1814	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q1814E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCCCTAGCCCAGAGGGACCA	0.607																																						ENST00000397527.1																			1	Substitution - Missense(1)	p.Q1814E(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5440-5442)Cag>Gag		centrosomal protein 250kDa							50.0	54.0	52.0					20																	34091637		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091637C>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5440C>G	20.37:g.34091637C>G	ENSP00000380661:p.Gln1814Glu					CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	p.Q1814E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	6160	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1814			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.5440C>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.155961	0.01686	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.36878	3.18;3.2;1.23	4.94	4.94	0.65067	.	0.374463	0.23270	N	0.050021	T	0.34019	0.0883	M	0.68317	2.08	0.31577	N	0.655555	B	0.14012	0.009	B	0.14023	0.01	T	0.37663	-0.9696	10	0.07030	T	0.85	.	13.9932	0.64380	0.0:0.8043:0.1956:0.0	.	1814	Q9BV73	CP250_HUMAN	E	1814;1758;302	ENSP00000380661:Q1814E;ENSP00000341541:Q1758E;ENSP00000395992:Q302E	ENSP00000341541:Q1758E	Q	+	1	0	CEP250	33555051	0.051000	0.20477	0.513000	0.27749	0.054000	0.15201	1.588000	0.36633	2.573000	0.86826	0.655000	0.94253	CAG		0.607	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	100	0	0	0	1	0	5	100				
ACOT12	134526	broad.mit.edu	37	5	80643722	80643722	+	Missense_Mutation	SNP	G	G	A	rs533675788		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:80643722G>A	ENST00000307624.3	-	6	552	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	175	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTGGAAACCGCTCCTTCCTC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		18006	0.0		0.0	False		,,,				2504	0.001					ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(523-525)gCg>gTg		acyl-CoA thioesterase 12							211.0	197.0	202.0					5																	80643722		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80643722G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.524C>T	5.37:g.80643722G>A	ENSP00000303246:p.Ala175Val						p.A175V	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	6	552	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	175			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.524C>T	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293937	0.23564	.	.	ENSG00000172497	ENST00000307624	T	0.13657	2.57	5.77	-2.76	0.05896	.	0.755249	0.13153	N	0.409737	T	0.05823	0.0152	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.09377	0.004	T	0.39418	-0.9615	10	0.18276	T	0.48	-5.272	3.7094	0.08414	0.5237:0.1105:0.2533:0.1125	.	175	Q8WYK0	ACO12_HUMAN	V	175	ENSP00000303246:A175V	ENSP00000303246:A175V	A	-	2	0	ACOT12	80679478	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.323000	0.19593	-0.361000	0.08125	-0.150000	0.13652	GCG		0.507	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		10	399	0	0	0	1	0	10	399				
CACNA1A	773	broad.mit.edu	37	19	13423526	13423526	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr19:13423526G>A	ENST00000360228.5	-	12	1624	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T543M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	543					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.T543M(3)|p.T542M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAAGGCCGCGTCCCAAGCCC	0.438																																						ENST00000360228.5																			4	Substitution - Missense(4)	p.T543M(3)|p.T542M(1)	prostate(4)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1624-1626)aCg>aTg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						96.0	93.0	94.0					19																	13423526		1884	4101	5985	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423526G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1625C>T	19.37:g.13423526G>A	ENSP00000353362:p.Thr542Met					CACNA1A_ENST00000573710.2_Missense_Mutation_p.T543M	p.T542M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1624	-			543					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1625C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665458	0.47677	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98437	-4.93	5.11	5.11	0.69529	Ion transport (1);	0.152448	0.42294	D	0.000721	D	0.96938	0.9000	N	0.03608	-0.345	0.39540	D	0.968802	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.87578	0.862;0.982;0.998	D	0.99868	1.1092	10	0.62326	D	0.03	.	17.6776	0.88235	0.0:0.0:1.0:0.0	.	543;543;542	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	M	542;543;543;543	ENSP00000353362:T542M	ENSP00000317661:T543M	T	-	2	0	CACNA1A	13284526	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.786000	0.69006	2.529000	0.85273	0.650000	0.86243	ACG		0.438	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		8	93	0	0	0	1	0	8	93				
NEUROD6	63974	broad.mit.edu	37	7	31378446	31378446	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr7:31378446A>G	ENST00000297142.3	-	2	759	c.437T>C	c.(436-438)cTt>cCt	p.L146P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	146	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L146P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AATTTCAGAAAGTGCCCAGAT	0.443																																						ENST00000297142.3																			1	Substitution - Missense(1)	p.L146P(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(436-438)cTt>cCt		neuronal differentiation 6							70.0	72.0	71.0					7																	31378446		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378446A>G	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.437T>C	7.37:g.31378446A>G	ENSP00000297142:p.Leu146Pro						p.L146P	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	759	-			146			Helix-loop-helix motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.437T>C	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637806	0.47049	.	.	ENSG00000164600	ENST00000297142	D	0.95918	-3.85	5.25	4.1	0.47936	Helix-loop-helix DNA-binding (5);	0.119152	0.64402	D	0.000018	D	0.98273	0.9428	H	0.98048	4.135	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	D	0.98023	1.0372	10	0.87932	D	0	-17.7651	10.911	0.47108	0.9261:0.0:0.0739:0.0	.	146	Q96NK8	NDF6_HUMAN	P	146	ENSP00000297142:L146P	ENSP00000297142:L146P	L	-	2	0	NEUROD6	31344971	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	0.844000	0.35094	0.528000	0.53228	CTT		0.443	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		42	94	0	0	0	1	0	42	94				
LAMA3	3909	broad.mit.edu	37	18	21426327	21426327	+	Silent	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr18:21426327C>T	ENST00000313654.9	+	31	4027	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	LAMA3_ENST00000399516.3_Silent_p.G1262G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1262	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G1262G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACCACAAGGGCGCCCTGCCTT	0.632																																						ENST00000313654.9																			1	Substitution - coding silent(1)	p.G1262G(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3784-3786)ggC>ggT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						77.0	80.0	79.0					18																	21426327		1927	4125	6052	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21426327C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3786C>T	18.37:g.21426327C>T						LAMA3_ENST00000399516.3_Silent_p.G1262G	p.G1262G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			31	4027	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1262			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.3786C>T	CCDS42419.1																																																																																				0.632	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	189	0	0	0	1	0	7	189				
SIPA1L3	23094	broad.mit.edu	37	19	38572930	38572930	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr19:38572930T>C	ENST00000222345.6	+	3	1234	c.725T>C	c.(724-726)cTc>cCc	p.L242P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	242					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.L242P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCGAGCTCCTCCGGGCAGAT	0.701																																						ENST00000222345.6																			1	Substitution - Missense(1)	p.L242P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(724-726)cTc>cCc		signal-induced proliferation-associated 1 like 3							22.0	23.0	23.0					19																	38572930		2051	4047	6098	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572930T>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.725T>C	19.37:g.38572930T>C	ENSP00000222345:p.Leu242Pro						p.L242P	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1234	+			242					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.725T>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.770164	0.49680	.	.	ENSG00000105738	ENST00000222345	T	0.80393	-1.37	5.22	5.22	0.72569	.	0.393945	0.23387	N	0.048723	D	0.84660	0.5521	L	0.52011	1.625	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.83107	-0.0125	10	0.36615	T	0.2	-17.3271	8.7554	0.34643	0.0:0.0867:0.0:0.9133	.	242	O60292	SI1L3_HUMAN	P	242	ENSP00000222345:L242P	ENSP00000222345:L242P	L	+	2	0	SIPA1L3	43264770	0.969000	0.33509	0.213000	0.23690	0.814000	0.46013	2.541000	0.45735	1.983000	0.57843	0.460000	0.39030	CTC		0.701	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		3	58	0	0	0	1	0	3	58				
DPH1	1801	broad.mit.edu	37	17	1939852	1939852	+	Missense_Mutation	SNP	C	C	T	rs36104739|rs201399054		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr17:1939852C>T	ENST00000263083.6	+	5	490	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.R69W	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	149					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R149W(2)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCAAGACTTCCGGGTGCTGTA	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18071	0.0		0.0	False		,,,				2504	0.0					ENST00000263083.6																			2	Substitution - Missense(2)	p.R149W(2)	prostate(2)	endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(445-447)Cgg>Tgg		diphthamide biosynthesis 1		C	TRP/ARG	1,4171		0,1,2085	111.0	124.0	119.0		445	4.4	1.0	17		119	0,8400		0,0,4200	yes	missense	DPH1	NM_001383.3	101	0,1,6285	TT,TC,CC		0.0,0.024,0.0080	probably-damaging	149/444	1939852	1,12571	2086	4200	6286	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1939852C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.445C>T	17.37:g.1939852C>T	ENSP00000263083:p.Arg149Trp					DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.R69W	p.R149W	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			5	490	+			149					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.445C>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416253	0.62511	2.4E-4	0.0	ENSG00000108963	ENST00000263083	T	0.45276	0.9	5.38	4.4	0.53042	.	0.134755	0.51477	D	0.000083	T	0.58278	0.2111	M	0.68593	2.085	0.40506	D	0.980693	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65443	0.935;0.935;0.935	T	0.62863	-0.6764	10	0.87932	D	0	-12.3904	10.4834	0.44706	0.1527:0.7032:0.1441:0.0	.	159;159;149	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	W	149	ENSP00000263083:R149W	ENSP00000263083:R149W	R	+	1	2	DPH1	1886602	0.998000	0.40836	0.986000	0.45419	0.660000	0.38997	2.697000	0.47060	1.256000	0.44068	0.555000	0.69702	CGG		0.627	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		11	148	0	0	0	1	0	11	148				
FOXA1	3169	broad.mit.edu	37	14	38060572	38060572	+	Nonstop_Mutation	SNP	A	A	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060572A>C	ENST00000250448.2	-	2	1478	c.1417T>G	c.(1417-1419)Tag>Gag	p.*473E	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	0					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.*473E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCCGGGAGCTAGGAAGTGTTT	0.562																																						ENST00000250448.2																			1	Nonstop extension(1)	p.*473E(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1417-1419)Tag>Gag		forkhead box A1							36.0	42.0	40.0					14																	38060572		2198	4292	6490	SO:0001578	stop_lost	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060572A>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1417T>G	14.37:g.38060572A>C	ENSP00000250448:p.*473Glnext*34					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E	p.*473E	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1478	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		0					B2R9H6|B7ZAP5|Q9H2A0	Nonstop_Mutation	SNP	ENST00000250448.2	37	c.1417T>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088750	0.36855	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2439	0.54560	1.0:0.0:0.0:0.0	.	.	.	.	E	473;440	.	.	X	-	1	0	FOXA1	37130323	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.936000	0.92931	1.727000	0.51537	0.329000	0.21502	TAG		0.562	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	88	0	0	0	1	0	4	88				
MT-ND2	4536	broad.mit.edu	37	M	2205	2205	+	5'Flank	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrM:2205T>C	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TTAAGAAAGCGTTCAAGCTCA	0.388																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2205T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2205T>C	Exception_encountered							NR_039705.1						0	535	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.388	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		6	2	0	0	0	1	0	6	2				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	117	0	0	0	1	0	3	117				
FCRL4	83417	broad.mit.edu	37	1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	rs143188744	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:157551405C>T	ENST00000271532.1	-	7	1300	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	389					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A389T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCCCGCGGCGACAAGGCCA	0.572													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18704	0.0		0.0	False		,,,				2504	0.0					ENST00000271532.1																			1	Substitution - Missense(1)	p.A389T(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1165-1167)Gcc>Acc		Fc receptor-like 4		C	THR/ALA	10,4396	16.8+/-37.8	0,10,2193	45.0	43.0	44.0		1165	-0.8	0.0	1	dbSNP_134	44	0,8600		0,0,4300	yes	missense	FCRL4	NM_031282.2	58	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign	389/516	157551405	10,12996	2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551405C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1165G>A	1.37:g.157551405C>T	ENSP00000271532:p.Ala389Thr					FCRL4_ENST00000448509.2_5'UTR	p.A389T	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			7	1300	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	389					Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1165G>A	CCDS1166.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.09	1.253832	0.22965	0.00227	0.0	ENSG00000163518	ENST00000271532	T	0.21734	1.99	4.63	-0.756	0.11057	.	0.894203	0.09252	N	0.827770	T	0.02970	0.0088	N	0.17248	0.465	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.45469	-0.9259	10	0.25106	T	0.35	.	4.5624	0.12166	0.0:0.4681:0.1564:0.3756	.	389	Q96PJ5	FCRL4_HUMAN	T	389	ENSP00000271532:A389T	ENSP00000271532:A389T	A	-	1	0	FCRL4	155818029	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.293000	0.08320	-0.061000	0.13110	-0.444000	0.05651	GCC		0.572	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	44	0	0	0	1	0	5	44				
NXF3	56000	broad.mit.edu	37	X	102337712	102337712	+	Silent	SNP	G	G	A	rs146732324		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:102337712G>A	ENST00000395065.3	-	8	857	c.756C>T	c.(754-756)gaC>gaT	p.D252D	NXF3_ENST00000425463.2_Silent_p.D163D|NXF3_ENST00000425644.1_De_novo_Start_InFrame	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	252					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.D252D(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTCATGGACGTCCAGGGAGG	0.478																																						ENST00000425644.1																			1	Substitution - coding silent(1)	p.D252D(1)	prostate(1)	NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26								nuclear RNA export factor 3		G		2,3833		0,2,1630,571	176.0	146.0	156.0		756	-4.8	0.0	X	dbSNP_134	156	0,6728		0,0,2428,1872	no	coding-synonymous	NXF3	NM_022052.1		0,2,4058,2443	AA,AG,GG,G		0.0,0.0522,0.0189		252/532	102337712	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337712G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.756C>T	X.37:g.102337712G>A						NXF3_ENST00000425463.2_Silent_p.D163D|NXF3_ENST00000395065.3_Silent_p.D252D				Q9H4D5	NXF3_HUMAN			0	826	-								B4DYS7|Q5H9I1|Q9H1A9	Translation_Start_Site	SNP	ENST00000395065.3	37		CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.417103	0.04766	5.22E-4	0.0	ENSG00000147206	ENST00000427570	.	.	.	3.64	-4.84	0.03151	.	.	.	.	.	T	0.16471	0.0396	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22521	-1.0214	4	.	.	.	0.2683	0.2606	0.00218	0.274:0.2654:0.1417:0.3188	.	.	.	.	C	129	.	.	R	-	1	0	NXF3	102224368	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.930000	0.01557	-1.518000	0.01778	-1.003000	0.02500	CGT		0.478	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		21	159	0	0	0	1	0	21	159				
CTNNB1	1499	broad.mit.edu	37	3	41266098	41266098	+	Missense_Mutation	SNP	A	A	T	rs121913396|rs121913416		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:41266098A>T	ENST00000349496.5	+	3	375	c.95A>T	c.(94-96)gAc>gTc	p.D32V	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	260	Deletion - In frame(120)|Substitution - Missense(114)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(154)|large_intestine(24)|pancreas(19)|central_nervous_system(16)|stomach(14)|endometrium(7)|skin(7)|ovary(4)|prostate(3)|pituitary(3)|small_intestine(2)|NS(2)|adrenal_gland(1)|soft_tissue(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(94-96)gAc>gTc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92.0	77.0	82.0					3																	41266098		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266098A>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.95A>T	3.37:g.41266098A>T	ENSP00000344456:p.Asp32Val					CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V	p.D32V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	375	+			32		D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.95A>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184569	0.78677	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74325	-0.3702	10	0.87932	D	0	0.3843	16.0676	0.80897	1.0:0.0:0.0:0.0	.	32	P35222	CTNB1_HUMAN	V	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25V;ENSP00000385604:D32V;ENSP00000412219:D32V;ENSP00000379486:D32V;ENSP00000344456:D32V;ENSP00000411226:D25V;ENSP00000379488:D32V;ENSP00000409302:D32V;ENSP00000401599:D32V	ENSP00000344456:D32V	D	+	2	0	CTNNB1	41241102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAC		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	52	0	0	0	1	0	5	52				
FAM83C	128876	broad.mit.edu	37	20	33875234	33875234	+	Missense_Mutation	SNP	G	G	A	rs369109150		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr20:33875234G>A	ENST00000374408.3	-	4	1444	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	EIF6_ENST00000374436.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	450								p.R450W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGAGGGGCCGGGAGCGAGGA	0.647																																						ENST00000374408.3																			1	Substitution - Missense(1)	p.R450W(1)	prostate(1)	central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1348-1350)Cgg>Tgg		family with sequence similarity 83, member C		G	TRP/ARG	1,4405		0,1,2202	34.0	32.0	33.0		1348	2.3	0.0	20		33	0,8600		0,0,4300	no	missense	FAM83C	NM_178468.4	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	450/748	33875234	1,13005	2203	4300	6503	SO:0001583	missense	128876							g.chr20:33875234G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1348C>T	20.37:g.33875234G>A	ENSP00000363529:p.Arg450Trp						p.R450W	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	1444	-			450					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.1348C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558263	0.45590	2.27E-4	0.0	ENSG00000125998	ENST00000374408	T	0.09911	2.93	4.29	2.33	0.28932	.	0.510837	0.19806	N	0.105654	T	0.14657	0.0354	M	0.73598	2.24	0.09310	N	1	D	0.60575	0.988	P	0.44477	0.451	T	0.12656	-1.0539	10	0.62326	D	0.03	-42.6193	7.777	0.29043	0.2097:0.0:0.7903:0.0	.	450	Q9BQN1	FA83C_HUMAN	W	450	ENSP00000363529:R450W	ENSP00000363529:R450W	R	-	1	2	FAM83C	33338648	0.060000	0.20803	0.029000	0.17559	0.843000	0.47879	1.604000	0.36804	1.169000	0.42739	0.561000	0.74099	CGG		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			5	60	0	0	0	1	0	5	60				
MUC5B	727897	broad.mit.edu	37	11	1268402	1268402	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:1268402G>A	ENST00000529681.1	+	31	10350	c.10292G>A	c.(10291-10293)aGc>aAc	p.S3431N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S3434N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S3410N(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccaccagcagcacAGTGACT	0.682																																						ENST00000447027.1																			1	Substitution - Missense(1)	p.S3410N(1)	prostate(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10300-10302)aGc>aAc		mucin 5B, oligomeric mucus/gel-forming							41.0	76.0	64.0					11																	1268402		2093	4144	6237	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268402G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10292G>A	11.37:g.1268402G>A	ENSP00000436812:p.Ser3431Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.S3431N|RP11-532E4.2_ENST00000532061.2_RNA	p.S3434N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10359	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3431	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10301G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180464	0.06380	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20598	2.06;2.24	2.38	-2.65	0.06095	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.31888	-0.9927	9	0.87932	D	0	.	2.2793	0.04110	0.1745:0.3567:0.3457:0.1231	.	3434	E9PBJ0	.	N	3431;3434;3403	ENSP00000436812:S3431N;ENSP00000415793:S3434N	ENSP00000343037:S3403N	S	+	2	0	MUC5B	1224978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.630000	0.05567	-0.714000	0.03626	AGC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		2	3	0	0	0	1	0	2	3				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	45	0	0	0	1	0	3	45				
PCDHB7	56129	broad.mit.edu	37	5	140554610	140554610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:140554610C>T	ENST00000231137.3	+	1	2368	c.2194C>T	c.(2194-2196)Cga>Tga	p.R732*	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R732*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTTTCCACGACATCTGGT	0.637																																						ENST00000231137.3																			2	Substitution - Nonsense(2)	p.R732*(2)	ovary(1)|prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2194-2196)Cga>Tga									83.0	130.0	114.0					5																	140554610		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554610C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2194C>T	5.37:g.140554610C>T	ENSP00000231137:p.Arg732*						p.R732*	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2368	+			732					A1L3Y8	Nonsense_Mutation	SNP	ENST00000231137.3	37	c.2194C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	37	6.157000	0.97334	.	.	ENSG00000113212	ENST00000231137	.	.	.	4.15	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.6868	0.23150	0.1353:0.1746:0.69:0.0	.	.	.	.	X	732	.	ENSP00000231137:R732X	R	+	1	2	PCDHB7	140534794	0.013000	0.17824	0.615000	0.29064	0.019000	0.09904	1.837000	0.39201	0.853000	0.35312	-0.413000	0.06143	CGA		0.637	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		21	525	0	0	0	1	0	21	525				
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	rs199633532		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RP11-173P15.7_ENST00000542620.1_RNA|ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGACCTGGCGCGCTGCCATG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17348	0.0		0.001	False		,,,				2504	0.0					ENST00000242592.4																			2	Substitution - Missense(2)	p.R330H(2)	prostate(1)|kidney(1)	central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	GRCh37	CM067634	ACADS	M		c.(988-990)cGc>cAc		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						46.0	52.0	50.0					12																	121176678		2203	4300	6503	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121176678G>A	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.989G>A	12.37:g.121176678G>A	ENSP00000242592:p.Arg330His					ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	p.R330H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN			8	1140	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	330					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.989G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357217	0.82243	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.96619	-4.07;-4.07	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.053187	0.64402	D	0.000001	D	0.96694	0.8921	L	0.33792	1.035	0.58432	D	0.999993	D;P;P	0.89917	1.0;0.737;0.737	D;B;B	0.80764	0.994;0.14;0.14	D	0.97682	1.0173	10	0.62326	D	0.03	.	17.5068	0.87748	0.0:0.0:1.0:0.0	.	326;330;330	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	330;326	ENSP00000242592:R330H;ENSP00000401045:R326H	ENSP00000242592:R330H	R	+	2	0	ACADS	119661061	1.000000	0.71417	0.916000	0.36221	0.916000	0.54674	7.185000	0.77714	2.125000	0.65367	0.561000	0.74099	CGC		0.642	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		5	113	0	0	0	1	0	5	113				
TBX18	9096	broad.mit.edu	37	6	85446536	85446536	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:85446536G>A	ENST00000369663.5	-	8	2028	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	564					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T564M(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTGCCGATCCGTCATGGTCCC	0.527																																						ENST00000369663.5																			2	Substitution - Missense(2)	p.T564M(2)	prostate(2)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1690-1692)aCg>aTg		T-box 18							58.0	62.0	61.0					6																	85446536		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446536G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1691C>T	6.37:g.85446536G>A	ENSP00000358677:p.Thr564Met					TBX18_ENST00000606784.1_Intron	p.T564M	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	2028	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	564					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1691C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572110	0.65765	.	.	ENSG00000112837	ENST00000369663	D	0.89810	-2.57	5.26	5.26	0.73747	.	0.097762	0.64402	D	0.000001	D	0.89192	0.6645	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90752	0.4658	10	0.56958	D	0.05	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	564	O95935	TBX18_HUMAN	M	564	ENSP00000358677:T564M	ENSP00000358677:T564M	T	-	2	0	TBX18	85503255	1.000000	0.71417	0.966000	0.40874	0.618000	0.37518	7.246000	0.78247	2.453000	0.82957	0.585000	0.79938	ACG		0.527	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		10	102	0	0	0	1	0	10	102				
FHIT	2272	broad.mit.edu	37	3	59999869	59999869	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:59999869A>G	ENST00000468189.1	-	6	483	c.113T>C	c.(112-114)gTg>gCg	p.V38A	FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron|FHIT_ENST00000341848.4_Missense_Mutation_p.V38A			P49789	FHIT_HUMAN	fragile histidine triad	38	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)	p.V38A(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CAGCGGGCACACAAGGACATC	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																													ENST00000468189.1				Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)	p.V38A(2)	prostate(2)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12						c.(112-114)gTg>gCg		fragile histidine triad							69.0	69.0	69.0					3																	59999869		2203	4300	6503	SO:0001583	missense	2272	Renal Cell Cancer associated with constitutional translocation of chromosome 3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:59999869A>G	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.113T>C	3.37:g.59999869A>G	ENSP00000417480:p.Val38Ala					FHIT_ENST00000466788.1_Intron|FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A	p.V38A			P49789	FHIT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)	6	483	-		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)	38			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	c.113T>C	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631744	0.67015	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.059439	0.64402	D	0.000003	D	0.98080	0.9367	H	0.96889	3.9	0.53688	D	0.999979	P	0.43885	0.82	P	0.59889	0.865	D	0.99019	1.0817	9	.	.	.	-17.1678	15.0195	0.71617	1.0:0.0:0.0:0.0	.	38	P49789	FHIT_HUMAN	A	38	ENSP00000418582:V38A;ENSP00000417557:V38A;ENSP00000417480:V38A;ENSP00000342087:V38A;ENSP00000418596:V38A	.	V	-	2	0	FHIT	59974909	1.000000	0.71417	0.987000	0.45799	0.095000	0.18619	7.833000	0.86765	2.285000	0.76669	0.533000	0.62120	GTG		0.542	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	NM_002012		6	84	0	0	0	1	0	6	84				
CRB2	286204	broad.mit.edu	37	9	126132708	126132708	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132708T>A	ENST00000373631.3	+	7	1377	c.1376T>A	c.(1375-1377)cTg>cAg	p.L459Q	CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q|CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	459	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.L459Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTGGCCCCCTGGGTCTGGCA	0.612																																						ENST00000373631.3																			1	Substitution - Missense(1)	p.L459Q(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1375-1377)cTg>cAg		crumbs homolog 2 (Drosophila)							42.0	42.0	42.0					9																	126132708		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132708T>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1376T>A	9.37:g.126132708T>A	ENSP00000362734:p.Leu459Gln					CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q|CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q	p.L459Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1377	+			459			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1376T>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264395	0.39995	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.80738	-1.41;-0.16;-1.41	4.94	-0.691	0.11305	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.724329	0.11310	N	0.577202	T	0.71169	0.3308	M	0.61703	1.905	0.09310	N	1	B;B	0.33171	0.278;0.4	B;B	0.30855	0.057;0.121	T	0.57046	-0.7878	10	0.28530	T	0.3	.	4.8869	0.13708	0.1591:0.4579:0.0:0.3829	.	459;459	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	Q	459;459;127	ENSP00000353092:L459Q;ENSP00000362734:L459Q;ENSP00000362732:L127Q	ENSP00000353092:L459Q	L	+	2	0	CRB2	125172529	0.002000	0.14202	0.399000	0.26333	0.812000	0.45895	0.741000	0.26202	0.221000	0.20879	0.368000	0.22195	CTG		0.612	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		5	55	0	0	0	1	0	5	55				
CA1	759	broad.mit.edu	37	8	86249177	86249177	+	Silent	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:86249177G>A	ENST00000523953.1	-	5	1397	c.351C>T	c.(349-351)gcC>gcT	p.A117A	CA1_ENST00000432364.2_Silent_p.A117A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Silent_p.A117A|CA1_ENST00000256119.5_Silent_p.A117A|CA1_ENST00000542576.1_Silent_p.A117A|CA1_ENST00000431316.1_Silent_p.A117A			P00915	CAH1_HUMAN	carbonic anhydrase I	117					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.A117A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	ACATTACCTCGGCAGAATATT	0.413																																						ENST00000523953.1																			1	Substitution - coding silent(1)	p.A117A(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(349-351)gcC>gcT		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						115.0	106.0	109.0					8																	86249177		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86249177G>A	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.351C>T	8.37:g.86249177G>A						CA1_ENST00000523022.1_Silent_p.A117A|CA1_ENST00000432364.2_Silent_p.A117A|CA1_ENST00000431316.1_Silent_p.A117A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000542576.1_Silent_p.A117A|CA1_ENST00000256119.5_Silent_p.A117A|CA1_ENST00000522389.1_Intron	p.A117A			P00915	CAH1_HUMAN			5	1397	-		all_lung(136;4.89e-06)	117						Silent	SNP	ENST00000523953.1	37	c.351C>T	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333215	0.01298	.	.	ENSG00000133742	ENST00000521679	.	.	.	4.92	-0.616	0.11583	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.3383	9.0013	0.36083	0.1053:0.0:0.4224:0.4723	.	.	.	.	X	54	.	.	R	-	1	2	CA1	86436429	0.007000	0.16637	0.197000	0.23402	0.027000	0.11550	0.076000	0.14712	-0.001000	0.14495	-1.301000	0.01330	CGA		0.413	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		16	196	0	0	0	1	0	16	196				
KRT1	3848	broad.mit.edu	37	12	53071120	53071120	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:53071120C>T	ENST00000252244.3	-	5	1166	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	370	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.E370K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TACAAGGACTCGGCCTCAGCT	0.522																																						ENST00000252244.3																			1	Substitution - Missense(1)	p.E370K(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1108-1110)Gag>Aag		keratin 1							118.0	108.0	111.0					12																	53071120		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53071120C>T	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1108G>A	12.37:g.53071120C>T	ENSP00000252244:p.Glu370Lys						p.E370K	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			5	1166	-			370			Coil 2.|Rod.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.1108G>A	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450722	0.84101	.	.	ENSG00000167768	ENST00000252244	D	0.93763	-3.28	5.11	5.11	0.69529	Filament (1);	.	.	.	.	D	0.97898	0.9309	H	0.98005	4.125	0.43499	D	0.995748	D	0.89917	1.0	D	0.87578	0.998	D	0.98561	1.0641	9	0.72032	D	0.01	.	13.254	0.60068	0.0:0.9228:0.0:0.0772	.	370	P04264	K2C1_HUMAN	K	370	ENSP00000252244:E370K	ENSP00000252244:E370K	E	-	1	0	KRT1	51357387	1.000000	0.71417	0.472000	0.27241	0.787000	0.44495	4.932000	0.63476	2.551000	0.86045	0.484000	0.47621	GAG		0.522	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		9	125	0	0	0	1	0	9	125				
MEN1	4221	broad.mit.edu	37	11	64572284	64572284	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:64572284C>T	ENST00000337652.1	-	10	1873	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	457					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R452Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CACCTTCTGCCGCACCTGGGC	0.726			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		1	Substitution - Missense(1)	p.R452Q(1)	prostate(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1369-1371)cGg>cAg		multiple endocrine neoplasia I							43.0	49.0	47.0					11																	64572284		2040	4052	6092	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572284C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1370G>A	11.37:g.64572284C>T	ENSP00000337088:p.Arg457Gln					MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q	p.R457Q	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	1873	-			457					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1370G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421058	0.96111	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.97110	0.999;0.979;1.0	D	0.97818	1.0255	10	0.87932	D	0	-28.0058	13.2231	0.59899	0.0:1.0:0.0:0.0	.	452;417;457	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	Q	397;417;452;452;452;457;457;457;457;457	ENSP00000366533:R397Q;ENSP00000366538:R417Q;ENSP00000366543:R452Q;ENSP00000308975:R452Q;ENSP00000323747:R452Q;ENSP00000337088:R457Q;ENSP00000377901:R457Q;ENSP00000377899:R457Q;ENSP00000396940:R457Q;ENSP00000366530:R457Q	ENSP00000308975:R452Q	R	-	2	0	MEN1	64328860	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.457000	0.60088	2.257000	0.74773	0.456000	0.33151	CGG		0.726	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			21	119	0	0	0	1	0	21	119				
SALL1	6299	broad.mit.edu	37	16	51173899	51173899	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr16:51173899G>A	ENST00000251020.4	-	2	2267	c.2234C>T	c.(2233-2235)aCg>aTg	p.T745M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.T648M|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	745					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T745M(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATTCCCTTTCGTGGTGAAAGC	0.547																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			2	Substitution - Missense(2)	p.T745M(2)	large_intestine(1)|prostate(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1942-1944)aCg>aTg		spalt-like transcription factor 1							61.0	63.0	62.0					16																	51173899		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173899G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2234C>T	16.37:g.51173899G>A	ENSP00000251020:p.Thr745Met					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T745M|SALL1_ENST00000541611.1_Intron	p.T648M	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2374	-		all_cancers(37;0.0322)	745					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1943C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476370	0.44044	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.23147	1.92;1.92	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44559	-0.9320	10	0.34782	T	0.22	.	19.0235	0.92923	0.0:0.0:1.0:0.0	.	745	Q9NSC2	SALL1_HUMAN	M	745;648;709	ENSP00000251020:T745M;ENSP00000407914:T648M	ENSP00000251020:T745M	T	-	2	0	SALL1	49731400	1.000000	0.71417	0.994000	0.49952	0.221000	0.24807	9.869000	0.99810	2.490000	0.84030	0.454000	0.30748	ACG		0.547	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		6	97	0	0	0	1	0	6	97				
TFAP2D	83741	broad.mit.edu	37	6	50740477	50740477	+	Missense_Mutation	SNP	C	C	T	rs373515669		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:50740477C>T	ENST00000008391.3	+	8	1487	c.1259C>T	c.(1258-1260)gCg>gTg	p.A420V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.A420V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACGGCGGAGCGGCGGATTCT	0.507																																						ENST00000008391.3																			1	Substitution - Missense(1)	p.A420V(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1258-1260)gCg>gTg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)		C	VAL/ALA	0,4406		0,0,2203	65.0	62.0	63.0		1259	5.3	0.9	6		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	TFAP2D	NM_172238.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	420/453	50740477	1,13005	2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740477C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1259C>T	6.37:g.50740477C>T	ENSP00000008391:p.Ala420Val						p.A420V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1487	+	Lung NSC(77;0.0334)		420						Missense_Mutation	SNP	ENST00000008391.3	37	c.1259C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884831	0.33255	0.0	1.16E-4	ENSG00000008197	ENST00000008391	D	0.97138	-4.26	5.31	5.31	0.75309	.	0.128171	0.52532	D	0.000075	D	0.86826	0.6026	N	0.08118	0	0.44652	D	0.997639	B	0.24092	0.097	B	0.20577	0.03	D	0.84307	0.0508	10	0.24483	T	0.36	-13.0217	12.3513	0.55151	0.0:0.9228:0.0:0.0772	.	420	Q7Z6R9	AP2D_HUMAN	V	420	ENSP00000008391:A420V	ENSP00000008391:A420V	A	+	2	0	TFAP2D	50848436	0.998000	0.40836	0.931000	0.37212	0.796000	0.44982	3.553000	0.53713	2.489000	0.83994	0.467000	0.42956	GCG		0.507	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		12	73	0	0	0	1	0	12	73				
CDK19	23097	broad.mit.edu	37	6	110948346	110948346	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:110948346T>C	ENST00000368911.3	-	7	828	c.649A>G	c.(649-651)Ata>Gta	p.I217V	CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.I217V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATTGCCCATATATCTGGGAAG	0.318																																						ENST00000368911.3																			1	Substitution - Missense(1)	p.I217V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(649-651)Ata>Gta		cyclin-dependent kinase 19							79.0	78.0	78.0					6																	110948346		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110948346T>C	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.649A>G	6.37:g.110948346T>C	ENSP00000357907:p.Ile217Val					CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V	p.I217V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			7	828	-			217			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.649A>G	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834465	0.71373	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	N	0.17312	0.475	0.80722	D	1	P;P	0.44946	0.846;0.846	P;P	0.55667	0.781;0.679	T	0.52328	-0.8590	10	0.27785	T	0.31	-15.9075	15.4145	0.74956	0.0:0.0:0.0:1.0	.	93;217	B4DUB1;Q9BWU1	.;CDK19_HUMAN	V	217;157;156;93;157	ENSP00000357907:I217V;ENSP00000317665:I157V;ENSP00000410604:I93V;ENSP00000415621:I157V	ENSP00000317665:I157V	I	-	1	0	CDK19	111055039	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.698000	0.84413	2.049000	0.60858	0.455000	0.32223	ATA		0.318	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		45	80	0	0	0	1	0	45	80				
DNM1P47	100216544	broad.mit.edu	37	15	102304631	102304631	+	RNA	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr15:102304631C>T	ENST00000561463.1	+	0	12677									DNM1 pseudogene 47																		GCGTCGGAACCTGCAGACACT	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102304631C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304631C>T														0	12677	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	7	0	0	0	1	0	2	7				
NBEAL2	23218	broad.mit.edu	37	3	47043892	47043892	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:47043892A>G	ENST00000450053.3	+	32	5362	c.5183A>G	c.(5182-5184)gAc>gGc	p.D1728G	NBEAL2_ENST00000292309.5_Missense_Mutation_p.D1544G|NBEAL2_ENST00000383740.2_Missense_Mutation_p.D7G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1728					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTCGAAATGGACACGTATGCT	0.597																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(5182-5184)gAc>gGc		neurobeachin-like 2							88.0	88.0	88.0					3																	47043892		2085	4212	6297	SO:0001583	missense	23218						binding	g.chr3:47043892A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5183A>G	3.37:g.47043892A>G	ENSP00000415034:p.Asp1728Gly					NBEAL2_ENST00000383740.2_Missense_Mutation_p.D7G|NBEAL2_ENST00000292309.5_Missense_Mutation_p.D1544G	p.D1728G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	32	5362	+		Acute lymphoblastic leukemia(5;0.0534)	1728					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.5183A>G	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.325747|4.325747	0.81580|0.81580	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000416683	T;T;T|.	0.58506|.	0.36;0.91;0.33|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.202858|.	0.43919|.	D|.	0.000501|.	T|T	0.70762|0.70762	0.3261|0.3261	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	P;P|.	0.51791|.	0.948;0.774|.	P;P|.	0.52823|.	0.71;0.599|.	T|T	0.70876|0.70876	-0.4753|-0.4753	10|5	0.59425|.	D|.	0.04|.	.|.	13.4524|13.4524	0.61178|0.61178	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1544;1728|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	G|A	1544;7;1728|1016	ENSP00000292309:D1544G;ENSP00000373246:D7G;ENSP00000415034:D1728G|.	ENSP00000292309:D1544G|.	D|T	+|+	2|1	0|0	NBEAL2|NBEAL2	47018896|47018896	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.977000|0.977000	0.68977|0.68977	7.315000|7.315000	0.78998|0.78998	2.045000|2.045000	0.60652|0.60652	0.529000|0.529000	0.55759|0.55759	GAC|ACA		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		3	89	0	0	0	1	0	3	89				
HMCN1	83872	broad.mit.edu	37	1	186147655	186147655	+	Missense_Mutation	SNP	G	G	A	rs144069476	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:186147655G>A	ENST00000271588.4	+	104	16280	c.16051G>A	c.(16051-16053)Ggg>Agg	p.G5351R	HMCN1_ENST00000367492.2_Intron|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5351	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G5351W(1)|p.G5351R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTAGGGGACGGGAAATCTTG	0.483													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18213	0.0		0.0	False		,,,				2504	0.0					ENST00000271588.4																			2	Substitution - Missense(2)	p.G5351W(1)|p.G5351R(1)	prostate(1)|lung(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(16051-16053)Ggg>Agg		hemicentin 1		G	ARG/GLY	0,4406		0,0,2203	160.0	161.0	160.0		16051	5.8	1.0	1	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	5351/5636	186147655	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186147655G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16051G>A	1.37:g.186147655G>A	ENSP00000271588:p.Gly5351Arg					HMCN1_ENST00000367492.2_Intron	p.G5351R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			104	16280	+			5351			EGF-like 6; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16051G>A	CCDS30956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.7	4.186400	0.78789	0.0	1.16E-4	ENSG00000143341	ENST00000271588	D	0.89343	-2.5	5.77	5.77	0.91146	Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93892	0.7180	10	0.72032	D	0.01	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	5351	Q96RW7	HMCN1_HUMAN	R	5351	ENSP00000271588:G5351R	ENSP00000271588:G5351R	G	+	1	0	HMCN1	184414278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.885000	0.99019	0.655000	0.94253	GGG		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	333	0	0	0	1	0	11	333				
CSMD3	114788	broad.mit.edu	37	8	113933896	113933896	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:113933896T>G	ENST00000297405.5	-	10	1837	c.1593A>C	c.(1591-1593)gaA>gaC	p.E531D	CSMD3_ENST00000352409.3_Missense_Mutation_p.E531D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E491D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E427D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	531	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E531D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGCAAAAACTTCAGCTATCC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.E531D(1)	large_intestine(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1591-1593)gaA>gaC		CUB and Sushi multiple domains 3							114.0	106.0	109.0					8																	113933896		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113933896T>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1593A>C	8.37:g.113933896T>G	ENSP00000297405:p.Glu531Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.E491D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E531D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E427D	p.E531D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			10	1837	-			531			Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1593A>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550027	0.27652	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.48	4.33	0.51752	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.10423	0.0255	N	0.03999	-0.3	0.27635	N	0.947894	B;B;B	0.18166	0.009;0.022;0.026	B;B;B	0.26969	0.02;0.075;0.063	T	0.33879	-0.9851	10	0.10902	T	0.67	.	6.4763	0.22037	0.1383:0.0736:0.0:0.7881	.	427;531;491	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	491;531;427;531	ENSP00000345799:E491D;ENSP00000297405:E531D;ENSP00000412263:E427D;ENSP00000343124:E531D	ENSP00000297405:E531D	E	-	3	2	CSMD3	114003072	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.208000	0.32345	0.925000	0.37094	0.533000	0.62120	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	153	0	0	0	1	0	4	153				
RTN3	10313	broad.mit.edu	37	11	63488086	63488086	+	Silent	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:63488086A>G	ENST00000377819.5	+	3	2266	c.2112A>G	c.(2110-2112)aaA>aaG	p.K704K	RTN3_ENST00000540798.1_Silent_p.K592K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Silent_p.K685K	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	704					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CTGAAATTAAAGACATTGGAA	0.388																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(2110-2112)aaA>aaG		reticulon 3							52.0	53.0	53.0					11																	63488086		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63488086A>G	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2112A>G	11.37:g.63488086A>G						RTN3_ENST00000540798.1_Silent_p.K592K|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.K685K|RTN3_ENST00000341307.2_Intron	p.K704K	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	2266	+			704					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.2112A>G	CCDS58141.1																																																																																				0.388	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		3	96	0	0	0	1	0	3	96				
CUL2	8453	broad.mit.edu	37	10	35351967	35351967	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr10:35351967G>A	ENST00000374748.1	-	4	456	c.143C>T	c.(142-144)gCc>gTc	p.A48V	CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V|CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V			Q13617	CUL2_HUMAN	cullin 2	48					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.A48V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTCAGGATAGGCCACACATAA	0.313																																						ENST00000374748.1																			1	Substitution - Missense(1)	p.A48V(1)	prostate(1)	breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(142-144)gCc>gTc		cullin 2							70.0	70.0	70.0					10																	35351967		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35351967G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.143C>T	10.37:g.35351967G>A	ENSP00000363880:p.Ala48Val					CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S|CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V	p.A48V			Q13617	CUL2_HUMAN			4	456	-			48					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.143C>T	CCDS7179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.012338|5.012338	0.93346|0.93346	.|.	.|.	ENSG00000108094|ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317|ENST00000374754	T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	5.64|5.64	4.73|4.73	0.59995|0.59995	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75258|0.75258	0.3825|0.3825	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.995;0.997|.	T|T	0.78560|0.78560	-0.2157|-0.2157	10|6	0.87932|0.66056	D|D	0|0.02	-8.0568|-8.0568	16.6175|16.6175	0.84920|0.84920	0.0:0.1302:0.8698:0.0|0.0:0.1302:0.8698:0.0	.|.	48;67;48|.	Q5T2B5;G3V1S2;Q13617|.	.;.;CUL2_HUMAN|.	V|S	48;48;48;48;48;67;48|6	ENSP00000363883:A48V;ENSP00000363880:A48V;ENSP00000363878:A48V;ENSP00000363881:A48V;ENSP00000363874:A48V;ENSP00000444856:A67V;ENSP00000414095:A48V|.	ENSP00000363874:A48V|ENSP00000363886:P6S	A|P	-|-	2|1	0|0	CUL2|CUL2	35391973|35391973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.756000|9.756000	0.98918|0.98918	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.313	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		11	118	0	0	0	1	0	11	118				
RPL19	6143	broad.mit.edu	37	17	37360425	37360425	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr17:37360425G>A	ENST00000225430.4	+	5	514	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RPL19_ENST00000579374.1_Missense_Mutation_p.R148H|RPL19_ENST00000582193.1_Missense_Mutation_p.R149H|RPL19_ENST00000579260.1_Missense_Mutation_p.R149H	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	151					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R151H(1)		kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						GACAAGGCCCGCAAGAAGCTC	0.453																																						ENST00000579260.1																			1	Substitution - Missense(1)	p.R151H(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(445-447)cGc>cAc		ribosomal protein L19							60.0	63.0	62.0					17																	37360425		1894	4119	6013	SO:0001583	missense	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37360425G>A		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.452G>A	17.37:g.37360425G>A	ENSP00000225430:p.Arg151His					RPL19_ENST00000579374.1_Missense_Mutation_p.R148H|RPL19_ENST00000582193.1_Missense_Mutation_p.R149H|RPL19_ENST00000225430.4_Missense_Mutation_p.R151H	p.R149H			P84098	RL19_HUMAN			5	849	+			151					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	c.446G>A	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	g	17.23	3.337528	0.60963	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.43	4.46	0.54185	.	0.056541	0.64402	D	0.000001	T	0.79793	0.4507	H	0.96208	3.785	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.80089	-0.1528	9	0.66056	D	0.02	.	13.4783	0.61322	0.0755:0.0:0.9245:0.0	.	151	P84098	RL19_HUMAN	H	151	.	ENSP00000225430:R151H	R	+	2	0	RPL19	34613951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.618000	0.98365	1.297000	0.44761	0.563000	0.77884	CGC		0.453	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		3	51	0	0	0	1	0	3	51				
CRB2	286204	broad.mit.edu	37	9	126132707	126132707	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132707C>A	ENST00000373631.3	+	7	1376	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	CRB2_ENST00000373629.2_Missense_Mutation_p.L127M|CRB2_ENST00000359999.3_Missense_Mutation_p.L459M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	459	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.L459M(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGTGGCCCCCTGGGTCTGGC	0.617																																						ENST00000373631.3																			1	Substitution - Missense(1)	p.L459M(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1375-1377)Ctg>Atg		crumbs homolog 2 (Drosophila)							42.0	42.0	42.0					9																	126132707		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132707C>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1375C>A	9.37:g.126132707C>A	ENSP00000362734:p.Leu459Met					CRB2_ENST00000359999.3_Missense_Mutation_p.L459M|CRB2_ENST00000373629.2_Missense_Mutation_p.L127M	p.L459M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			7	1376	+			459			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1375C>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910788	0.33721	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.80393	-1.37;-0.14;-1.37	4.64	1.69	0.24217	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.724329	0.11310	N	0.577202	T	0.72447	0.3461	M	0.73962	2.25	0.09310	N	1	B;B	0.33171	0.278;0.4	B;B	0.26969	0.034;0.075	T	0.60974	-0.7156	10	0.35671	T	0.21	.	1.2275	0.01936	0.1383:0.3853:0.1529:0.3235	.	459;459	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	M	459;459;127	ENSP00000353092:L459M;ENSP00000362734:L459M;ENSP00000362732:L127M	ENSP00000353092:L459M	L	+	1	2	CRB2	125172528	0.000000	0.05858	0.392000	0.26245	0.789000	0.44602	-0.183000	0.09712	0.129000	0.18514	0.448000	0.29417	CTG		0.617	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		5	56	1	0	8.12818e-05	1	8.81701e-05	5	56				
EYS	346007	broad.mit.edu	37	6	66204899	66204899	+	Silent	SNP	A	A	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:66204899A>C	ENST00000370621.3	-	4	931	c.405T>G	c.(403-405)acT>acG	p.T135T	EYS_ENST00000393380.2_Silent_p.T135T|EYS_ENST00000342421.5_Silent_p.T135T|EYS_ENST00000503581.1_Silent_p.T135T|EYS_ENST00000370618.3_Silent_p.T135T|EYS_ENST00000370616.2_Silent_p.T135T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	135			T -> L (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:20333770}.		detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAGAATTAACAGTGTGCATTC	0.408																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(403-405)acT>acG		eyes shut homolog (Drosophila)							69.0	62.0	64.0					6																	66204899		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204899A>C		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.405T>G	6.37:g.66204899A>C						EYS_ENST00000342421.5_Silent_p.T135T|EYS_ENST00000393380.2_Silent_p.T135T|EYS_ENST00000370616.2_Silent_p.T135T|EYS_ENST00000370618.3_Silent_p.T135T|EYS_ENST00000370621.3_Silent_p.T135T	p.T135T	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	942	-			135		T -> L (requires 2 nucleotide substitutions).			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.405T>G																																																																																					0.408	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		4	110	0	0	0	1	0	4	110				
CUX2	23316	broad.mit.edu	37	12	111652018	111652018	+	Silent	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:111652018C>T	ENST00000261726.6	+	2	232	c.78C>T	c.(76-78)tcC>tcT	p.S26S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	26					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.S26S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGCTTAATTCCGTCGCTTCTG	0.353																																						ENST00000261726.6																			1	Substitution - coding silent(1)	p.S26S(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(76-78)tcC>tcT		cut-like homeobox 2							51.0	51.0	51.0					12																	111652018		1806	4077	5883	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111652018C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.78C>T	12.37:g.111652018C>T							p.S26S	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			2	232	+			26					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.78C>T	CCDS41837.1																																																																																				0.353	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		7	130	0	0	0	1	0	7	130				
MXRA5	25878	broad.mit.edu	37	X	3242966	3242966	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:3242966C>A	ENST00000217939.6	-	5	914	c.760G>T	c.(760-762)Gca>Tca	p.A254S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	254	LRRCT.					extracellular vesicular exosome (GO:0070062)		p.A254S(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGCACATTGCACACAACTGA	0.408																																						ENST00000217939.6																			3	Substitution - Missense(3)	p.A254S(3)	prostate(3)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(760-762)Gca>Tca		matrix-remodelling associated 5							55.0	49.0	51.0					X																	3242966		2203	4297	6500	SO:0001583	missense	25878					extracellular region		g.chrX:3242966C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.760G>T	X.37:g.3242966C>A	ENSP00000217939:p.Ala254Ser						p.A254S	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	914	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	254			LRRCT.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.760G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692228	0.00731	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62364	0.03	3.08	-1.34	0.09143	Cysteine-rich flanking region, C-terminal (1);	0.466719	0.15621	N	0.252894	T	0.38639	0.1048	N	0.21508	0.67	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.18366	-1.0339	10	0.16420	T	0.52	.	6.654	0.22977	0.296:0.309:0.3951:0.0	.	254	Q9NR99	MXRA5_HUMAN	S	254	ENSP00000217939:A254S	ENSP00000217939:A254S	A	-	1	0	MXRA5	3252966	0.215000	0.23574	0.000000	0.03702	0.006000	0.05464	0.359000	0.20233	-0.183000	0.10585	0.425000	0.28330	GCA		0.408	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	46	1	0	0.00621372	1	0.00651931	9	46				
CXorf67	340602	broad.mit.edu	37	X	51150821	51150821	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:51150821C>T	ENST00000342995.2	+	1	1055	c.953C>T	c.(952-954)gCg>gTg	p.A318V				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	318								p.A318V(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGCGATTCTGCGCCAGGCCCT	0.736																																						ENST00000342995.2																			1	Substitution - Missense(1)	p.A318V(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(952-954)gCg>gTg		chromosome X open reading frame 67							11.0	10.0	10.0					X																	51150821		2169	4213	6382	SO:0001583	missense	340602							g.chrX:51150821C>T	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.953C>T	X.37:g.51150821C>T	ENSP00000342680:p.Ala318Val						p.A318V							1	1055	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.953C>T		.	.	.	.	.	.	.	.	.	.	-	11.17	1.561287	0.27915	.	.	ENSG00000187690	ENST00000342995	T	0.47177	0.85	3.02	1.14	0.20703	.	3.338220	0.01403	N	0.013692	T	0.39517	0.1081	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.45037	0.467	T	0.21008	-1.0258	9	0.44086	T	0.13	.	1.3722	0.02213	0.2284:0.4194:0.2186:0.1336	.	318	Q86X51	CX067_HUMAN	V	318	ENSP00000342680:A318V	ENSP00000342680:A318V	A	+	2	0	CXorf67	51167561	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.076000	0.11412	0.179000	0.19938	-0.307000	0.09154	GCG		0.736	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		9	4	0	0	0	1	0	9	4				
FAM198B	51313	broad.mit.edu	37	4	159091855	159091855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:159091855G>A	ENST00000296530.8	-	2	1294	c.673C>T	c.(673-675)Cga>Tga	p.R225*	RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Nonsense_Mutation_p.R225*|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000393807.5_Nonsense_Mutation_p.R225*|FAM198B_ENST00000585682.1_Nonsense_Mutation_p.R225*|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	225						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GCCAAGAGTCGCATTCTTCGG	0.647											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296530.8																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(673-675)Cga>Tga		family with sequence similarity 198, member B							53.0	58.0	56.0					4																	159091855		2203	4300	6503	SO:0001587	stop_gained	51313					Golgi membrane|integral to membrane		g.chr4:159091855G>A		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.673C>T	4.37:g.159091855G>A	ENSP00000296530:p.Arg225*		OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1798	FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Nonsense_Mutation_p.R225*|FAM198B_ENST00000585682.1_Nonsense_Mutation_p.R225*|FAM198B_ENST00000393807.5_Nonsense_Mutation_p.R225*	p.R225*	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN			2	1294	-			225					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Nonsense_Mutation	SNP	ENST00000296530.8	37	c.673C>T	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	G	42	9.687541	0.99238	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	.	.	.	4.93	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1335	14.7089	0.69211	0.0:0.0:0.8538:0.1462	.	.	.	.	X	225	.	ENSP00000296530:R225X	R	-	1	2	FAM198B	159311305	1.000000	0.71417	0.978000	0.43139	0.813000	0.45954	3.985000	0.56930	1.277000	0.44412	-0.309000	0.09137	CGA		0.647	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		4	106	0	0	0	1	0	4	106				
WNK2	65268	broad.mit.edu	37	9	96021252	96021252	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:96021252G>A	ENST00000297954.4	+	11	2422	c.2422G>A	c.(2422-2424)Gcg>Acg	p.A808T	WNK2_ENST00000395475.2_Missense_Mutation_p.A742T|WNK2_ENST00000395477.2_Missense_Mutation_p.A808T|WNK2_ENST00000349097.3_Missense_Mutation_p.A420T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A420T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	808					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CACGCCCCTGGCGGGAATCGA	0.652																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2422-2424)Gcg>Acg		WNK lysine deficient protein kinase 2							34.0	38.0	36.0					9																	96021252		2202	4299	6501	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96021252G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2422G>A	9.37:g.96021252G>A	ENSP00000297954:p.Ala808Thr					WNK2_ENST00000395477.2_Missense_Mutation_p.A808T|WNK2_ENST00000349097.3_Missense_Mutation_p.A420T|WNK2_ENST00000427277.2_Missense_Mutation_p.A420T|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Missense_Mutation_p.A742T	p.A808T			Q9Y3S1	WNK2_HUMAN			11	2422	+			808					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.2422G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	10.54|10.54|10.54	1.378354|1.378354|1.378354	0.24944|0.24944|0.24944	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624|ENST00000432730	T;T;T;T;T;T|.|.	0.71222|.|.	-0.55;-0.5;-0.49;-0.55;0.08;0.11|.|.	5.01|5.01|5.01	3.14|3.14|3.14	0.36123|0.36123|0.36123	.|.|.	0.503590|.|.	0.20050|.|.	N|.|.	0.100337|.|.	T|T|.	0.41743|0.41743|.	0.1172|0.1172|.	N|N|N	0.24115|0.24115|0.24115	0.695|0.695|0.695	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;B;B;B|.|.	0.21071|.|.	0.01;0.005;0.051;0.01;0.012|.|.	B;B;B;B;B|.|.	0.14578|.|.	0.011;0.006;0.01;0.011;0.01|.|.	T|T|.	0.10660|0.10660|.	-1.0620|-1.0620|.	10|5|.	0.46703|.|.	T|.|.	0.11|.|.	.|.|.	9.8635|9.8635|9.8635	0.41129|0.41129|0.41129	0.2264:0.0:0.7736:0.0|0.2264:0.0:0.7736:0.0|0.2264:0.0:0.7736:0.0	.|.|.	808;808;411;808;808|.|.	Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;.;WNK2_HUMAN|.|.	T|D|X	756;808;808;742;420;420|411|803	ENSP00000412465:A756T;ENSP00000297954:A808T;ENSP00000378860:A808T;ENSP00000378858:A742T;ENSP00000297876:A420T;ENSP00000411181:A420T|.|.	ENSP00000297954:A808T|.|.	A|G|W	+|+|+	1|2|3	0|0|0	WNK2|WNK2|WNK2	95061073|95061073|95061073	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.246000|0.246000|0.246000	0.24233|0.24233|0.24233	0.133000|0.133000|0.133000	0.20885|0.20885|0.20885	2.860000|2.860000|2.860000	0.48372|0.48372|0.48372	0.491000|0.491000|0.491000	0.27793|0.27793|0.27793	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GCG|GGC|TGG		0.652	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	67	0	0	0	1	0	3	67				
HHIPL2	79802	broad.mit.edu	37	1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:222717002C>T	ENST00000343410.6	-	2	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	284					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R284H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGATTGTGGCGGAATTTGGG	0.483																																						ENST00000343410.6																			1	Substitution - Missense(1)	p.R284H(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(850-852)cGc>cAc		HHIP-like 2							120.0	135.0	130.0					1																	222717002		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717002C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.851G>A	1.37:g.222717002C>T	ENSP00000342118:p.Arg284His						p.R284H	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	909	-			284					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.851G>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747312	0.30955	.	.	ENSG00000143512	ENST00000343410	T	0.14266	2.52	5.2	-1.55	0.08558	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.575798	0.17518	N	0.171343	T	0.10809	0.0264	L	0.49778	1.585	0.19300	N	0.999978	B	0.28419	0.211	B	0.24848	0.056	T	0.16837	-1.0389	10	0.48119	T	0.1	-7.1715	7.303	0.26432	0.0:0.3416:0.1196:0.5388	.	284	Q6UWX4	HIPL2_HUMAN	H	284	ENSP00000342118:R284H	ENSP00000342118:R284H	R	-	2	0	HHIPL2	220783625	0.001000	0.12720	0.142000	0.22268	0.981000	0.71138	-0.127000	0.10547	-0.306000	0.08818	-0.373000	0.07131	CGC		0.483	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		8	236	0	0	0	1	0	8	236				
LRRC66	339977	broad.mit.edu	37	4	52861922	52861922	+	Silent	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:52861922G>A	ENST00000343457.3	-	4	1272	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	422						integral component of membrane (GO:0016021)		p.N422N(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGAAGCCCTCGTTTGAATACG	0.537																																						ENST00000343457.3																			1	Substitution - coding silent(1)	p.N422N(1)	prostate(1)	central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(1264-1266)aaC>aaT		leucine rich repeat containing 66							118.0	123.0	122.0					4																	52861922		2020	4175	6195	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861922G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1266C>T	4.37:g.52861922G>A							p.N422N	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	1272	-			422						Silent	SNP	ENST00000343457.3	37	c.1266C>T	CCDS43229.1																																																																																				0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		11	168	0	0	0	1	0	11	168				
CSNK1E	1454	broad.mit.edu	37	22	38696816	38696816	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr22:38696816G>T	ENST00000396832.1	-	5	738	c.478C>A	c.(478-480)Cgc>Agc	p.R160S	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R160S|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R160S|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R160S|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R160S|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R160S	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TGGTGGGTGCGGGCGTCCCGG	0.622																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	ENST00000396832.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(478-480)Cgc>Agc		casein kinase 1, epsilon							157.0	128.0	138.0					22																	38696816		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38696816G>T		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.478C>A	22.37:g.38696816G>T	ENSP00000380044:p.Arg160Ser					CSNK1E_ENST00000413574.2_Missense_Mutation_p.R160S|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R160S|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R160S|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R160S|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R160S	p.R160S	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN			5	738	-	Melanoma(58;0.045)		160			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.478C>A	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868329	0.91587	.	.	ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335	T;T;T;T;T;T;T	0.06218	3.33;3.33;3.33;3.33;3.33;3.33;3.33	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.151436	0.64402	D	0.000012	T	0.13243	0.0321	L	0.49699	1.58	0.80722	D	1	B;P;P	0.46621	0.072;0.705;0.881	B;B;P	0.48030	0.089;0.4;0.564	T	0.00795	-1.1563	10	0.40728	T	0.16	.	19.2764	0.94032	0.0:0.0:1.0:0.0	.	160;160;160	B0QY35;B0QY34;P49674	.;.;KC1E_HUMAN	S	160	ENSP00000352929:R160S;ENSP00000380044:R160S;ENSP00000383067:R160S;ENSP00000384074:R160S;ENSP00000407235:R160S;ENSP00000384426:R160S;ENSP00000412335:R160S	ENSP00000352929:R160S	R	-	1	0	CSNK1E	37026762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.860000	0.86993	2.724000	0.93272	0.561000	0.74099	CGC		0.622	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		3	103	1	0	0.004672	1	0.00498347	3	103				
UBR3	130507	broad.mit.edu	37	2	170930058	170930058	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr2:170930058A>G	ENST00000272793.5	+	36	5190	c.5140A>G	c.(5140-5142)Ata>Gta	p.I1714V	UBR3_ENST00000392631.1_Missense_Mutation_p.I535V|UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1714					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I567V(1)|p.I1714V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTTGATATTATAACTCAGTG	0.418																																						ENST00000272793.5																			2	Substitution - Missense(2)	p.I567V(1)|p.I1714V(1)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5140-5142)Ata>Gta		ubiquitin protein ligase E3 component n-recognin 3 (putative)							120.0	116.0	117.0					2																	170930058		2203	4299	6502	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170930058A>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5140A>G	2.37:g.170930058A>G	ENSP00000272793:p.Ile1714Val					UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V	p.I1714V			Q6ZT12	UBR3_HUMAN			36	5190	+			1714					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5140A>G		.	.	.	.	.	.	.	.	.	.	A	3.948	-0.012940	0.07727	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.31	4.07	0.47477	.	0.097389	0.64402	D	0.000001	T	0.27454	0.0674	N	0.16368	0.405	0.32023	N	0.60048	B;B;B	0.14438	0.001;0.01;0.001	B;B;B	0.16289	0.001;0.015;0.005	T	0.19844	-1.0293	10	0.08381	T	0.77	.	11.378	0.49739	0.8645:0.0:0.0:0.1355	.	1714;535;1743	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	V	1714;1743;1714;535;414	ENSP00000272793:I1714V;ENSP00000396068:I1714V;ENSP00000376408:I535V;ENSP00000389097:I414V	ENSP00000272793:I1714V	I	+	1	0	UBR3	170638304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.037000	0.49775	2.126000	0.65437	0.533000	0.62120	ATA		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		91	137	0	0	0	1	0	91	137				
PCDHA4	56144	broad.mit.edu	37	5	140188929	140188929	+	Silent	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:140188929C>T	ENST00000530339.1	+	1	2157	c.2157C>T	c.(2155-2157)acC>acT	p.T719T	PCDHA4_ENST00000356878.4_Silent_p.T719T|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T719T	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	719					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T719T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTACACCGCGCTGCGGT	0.657																																						ENST00000530339.1																			2	Substitution - coding silent(2)	p.T719T(2)	prostate(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(2155-2157)acC>acT									56.0	50.0	52.0					5																	140188929		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188929C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2157C>T	5.37:g.140188929C>T						PCDHA4_ENST00000356878.4_Silent_p.T719T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T719T|PCDHA1_ENST00000504120.2_Intron	p.T719T	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2157	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.2157C>T	CCDS54916.1																																																																																				0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		6	93	0	0	0	1	0	6	93				
OR5D16	390144	broad.mit.edu	37	11	55606581	55606581	+	Silent	SNP	G	G	A	rs139231893	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:55606581G>A	ENST00000378396.1	+	1	354	c.354G>A	c.(352-354)gcG>gcA	p.A118A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A118A(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCTATTTGCGGTGATGGCCT	0.423																																						ENST00000378396.1																			2	Substitution - coding silent(2)	p.A118A(2)	prostate(1)|lung(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(352-354)gcG>gcA		olfactory receptor, family 5, subfamily D, member 16		G		1,4401		0,1,2200	126.0	121.0	122.0		354	-1.2	0.0	11	dbSNP_134	122	4,8588		0,4,4292	no	coding-synonymous	OR5D16	NM_001005496.1		0,5,6492	AA,AG,GG		0.0466,0.0227,0.0385		118/329	55606581	5,12989	2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606581G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.354G>A	11.37:g.55606581G>A							p.A118A	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	354	+		all_epithelial(135;0.208)	118					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.354G>A	CCDS31512.1																																																																																				0.423	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		7	305	0	0	0	1	0	7	305				
LIMCH1	22998	broad.mit.edu	37	4	41621299	41621299	+	Silent	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:41621299G>A	ENST00000313860.7	+	8	831	c.777G>A	c.(775-777)gaG>gaA	p.E259E	LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000512946.1_Silent_p.E259E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000511496.1_Silent_p.E100E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	259					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E259E(1)|p.E100E(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCCATGGTGAGCCGAAATCAG	0.547																																						ENST00000313860.7																			2	Substitution - coding silent(2)	p.E259E(1)|p.E100E(1)	prostate(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(775-777)gaG>gaA		LIM and calponin homology domains 1							150.0	152.0	151.0					4																	41621299		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621299G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.777G>A	4.37:g.41621299G>A						LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000512946.1_Silent_p.E259E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000513024.1_Silent_p.E100E	p.E259E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			8	831	+			259					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.777G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	1.326	-0.598209	0.03744	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.59	4.74	0.60224	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51896	-0.8647	4	.	.	.	-19.2104	5.6093	0.17396	0.2632:0.0:0.7368:0.0	.	.	.	.	N	94	.	.	S	+	2	0	LIMCH1	41316056	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	5.799000	0.69101	2.797000	0.96272	0.563000	0.77884	AGC		0.547	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		18	261	0	0	0	1	0	18	261				
SCN11A	11280	broad.mit.edu	37	3	38936053	38936053	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:38936053G>A	ENST00000302328.3	-	15	3004	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	SCN11A_ENST00000450244.1_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	936					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGTGATGCGCTGTGCATTA	0.493																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2806-2808)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						231.0	232.0	232.0					3																	38936053		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936053G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2806C>T	3.37:g.38936053G>A	ENSP00000307599:p.Arg936Cys					SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C	p.R936C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	3004	-			936					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2806C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137390	0.37728	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.2	-5.89	0.02282	Sodium ion transport-associated (1);	3.917410	0.00496	N	0.000151	T	0.62780	0.2456	N	0.08118	0	0.09310	N	1	P	0.40050	0.7	B	0.38056	0.264	T	0.59931	-0.7361	10	0.62326	D	0.03	.	2.3266	0.04224	0.1481:0.3552:0.1419:0.3548	.	936	Q9UI33	SCNBA_HUMAN	C	936	ENSP00000307599:R936C;ENSP00000400945:R936C;ENSP00000416757:R936C;ENSP00000408028:R936C	ENSP00000307599:R936C	R	-	1	0	SCN11A	38911057	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-2.491000	0.00974	-0.676000	0.05238	0.650000	0.86243	CGC		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		10	480	0	0	0	1	0	10	480				
RIMBP2	23504	broad.mit.edu	37	12	130935764	130935764	+	Silent	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:130935764G>A	ENST00000261655.4	-	5	592	c.429C>T	c.(427-429)agC>agT	p.S143S	RIMBP2_ENST00000535703.1_Silent_p.S51S|RIMBP2_ENST00000536002.1_Silent_p.S51S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	143					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S143S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCATCTTGCGCTACCGGATC	0.637																																						ENST00000261655.4																			1	Substitution - coding silent(1)	p.S143S(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(427-429)agC>agT		RIMS binding protein 2							66.0	61.0	63.0					12																	130935764		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130935764G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.429C>T	12.37:g.130935764G>A						RIMBP2_ENST00000536002.1_Silent_p.S51S|RIMBP2_ENST00000535703.1_Silent_p.S51S	p.S143S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	592	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	143					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.429C>T	CCDS31925.1																																																																																				0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		5	80	0	0	0	1	0	5	80				
ASH1L	55870	broad.mit.edu	37	1	155448689	155448689	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:155448689delA	ENST00000368346.3	-	3	4611	c.3972delT	c.(3970-3972)tttfs	p.F1324fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1324					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAAACTATTAAAGTTGATTC	0.408																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3970-3972)ttfs		ash1 (absent, small, or homeotic)-like (Drosophila)							96.0	98.0	98.0					1																	155448689		2203	4300	6503	SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448689delA	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3972delT	1.37:g.155448689delA	ENSP00000357330:p.Phe1324fs					ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs	p.F1324fs			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4611	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1324					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37	c.3972delT																																																																																					0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	268						7	268	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		9	124						9	124	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC								NR_001296.3						0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		9	21						9	21	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			0							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		5	7						5	7	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38060721	38060721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060721delG	ENST00000250448.2	-	2	1329	c.1268delC	c.(1267-1269)gcafs	p.A423fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	423					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTATTGCAGTGCCTGTTCGTA	0.612																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1267-1269)gafs		forkhead box A1							135.0	105.0	115.0					14																	38060721		2203	4300	6503	SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060721delG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1268delC	14.37:g.38060721delG	ENSP00000250448:p.Ala423fs					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs	p.A423fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1329	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		423					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	ENST00000250448.2	37	c.1268delC	CCDS9665.1																																																																																				0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	66						12	66	---	---	---	---
DGCR5	26220	broad.mit.edu	37	22	18976301	18976308	+	RNA	DEL	TATTTATT	TATTTATT	-	rs139950802|rs66539476	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr22:18976301_18976308delTATTTATT	ENST00000421572.1	+	0	404				DGCR5_ENST00000399539.3_RNA|DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000438934.1_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		TGGCTGGACAtatttatttatttattta	0.394																																						ENST00000438934.1																			0																																																			0							g.chr22:18976301_18976308delTATTTATT	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18976309_18976316delTATTTATT						DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA								0	394	+									RNA	DEL	ENST00000421572.1	37																																																																																						0.394	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		3	3						3	3	---	---	---	---
