#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
FSHR	2492	broad.mit.edu	37	2	49190947	49190947	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:49190947C>T	ENST00000406846.2	-	10	1132	c.1013G>A	c.(1012-1014)tGc>tAc	p.C338Y	FSHR_ENST00000346173.3_Missense_Mutation_p.C276Y|FSHR_ENST00000304421.4_Missense_Mutation_p.C312Y|FSHR_ENST00000541117.1_Missense_Mutation_p.C74Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	338					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CACTTCATTGCATAAGTCATA	0.473									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1012-1014)tGc>tAc		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						303.0	256.0	272.0					2																	49190947		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190947C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1013G>A	2.37:g.49190947C>T	ENSP00000384708:p.Cys338Tyr					FSHR_ENST00000541117.1_Missense_Mutation_p.C74Y|FSHR_ENST00000304421.4_Missense_Mutation_p.C312Y|FSHR_ENST00000346173.3_Missense_Mutation_p.C276Y	p.C338Y	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1132	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	338					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1013G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607388	0.66558	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117;ENST00000454032	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.33	5.33	0.75918	Gonadotropin hormone receptor, transmembrane domain (1);	0.099573	0.64402	D	0.000001	D	0.96602	0.8891	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.999	D	0.96127	0.9089	9	.	.	.	.	18.1871	0.89796	0.0:1.0:0.0:0.0	.	312;276;338	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Y	338;276;312;74;276	ENSP00000384708:C338Y;ENSP00000333908:C276Y;ENSP00000306780:C312Y;ENSP00000444172:C74Y;ENSP00000415504:C276Y	.	C	-	2	0	FSHR	49044451	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.320000	0.79064	2.779000	0.95612	0.561000	0.74099	TGC		0.473	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			26	33	0	0	0	1	0	26	33				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	160	0	0	0	1	0	5	160				
LOC440040	440040	broad.mit.edu	37	11	49831352	49831352	+	RNA	SNP	G	G	C			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:49831352G>C	ENST00000527477.1	+	0	1577																											GTGGAGATTTGAGAAGCATTT	0.353																																						ENST00000527477.1																			0																																																			0							g.chr11:49831352G>C																													11.37:g.49831352G>C														0	1577	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.353	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			5	10	0	0	0	1	0	5	10				
TTK	7272	broad.mit.edu	37	6	80732143	80732143	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr6:80732143C>G	ENST00000369798.2	+	11	1322	c.1211C>G	c.(1210-1212)tCa>tGa	p.S404*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S404*|TTK_ENST00000515751.1_3'UTR|TTK_ENST00000509894.1_Nonsense_Mutation_p.S404*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	404					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GCTGCATCTTCAAATCACTGG	0.388																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1210-1212)tCa>tGa		TTK protein kinase							89.0	87.0	87.0					6																	80732143		2203	4300	6503	SO:0001587	stop_gained	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80732143C>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1211C>G	6.37:g.80732143C>G	ENSP00000358813:p.Ser404*					TTK_ENST00000515751.1_3'UTR|TTK_ENST00000369798.2_Nonsense_Mutation_p.S404*|TTK_ENST00000230510.3_Nonsense_Mutation_p.S404*	p.S404*			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	11	2040	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	404					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Nonsense_Mutation	SNP	ENST00000369798.2	37	c.1211C>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996262	0.74818	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	.	.	.	5.11	4.09	0.47781	.	0.970813	0.08532	N	0.931901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.5501	0.27790	0.0:0.8484:0.0:0.1516	.	.	.	.	X	404	.	ENSP00000230510:S404X	S	+	2	0	TTK	80788862	0.004000	0.15560	0.011000	0.14972	0.251000	0.25915	1.447000	0.35101	0.903000	0.36546	0.563000	0.77884	TCA		0.388	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			21	30	0	0	0	1	0	21	30				
SALL2	6297	broad.mit.edu	37	14	21992041	21992041	+	Silent	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr14:21992041C>T	ENST00000327430.3	-	2	2115	c.1821G>A	c.(1819-1821)gtG>gtA	p.V607V	SALL2_ENST00000450879.2_Silent_p.V470V|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CAGCTGAGGTCACCGCCACAG	0.582																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(1819-1821)gtG>gtA		spalt-like transcription factor 2							41.0	43.0	42.0					14																	21992041		2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992041C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1821G>A	14.37:g.21992041C>T						SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.V470V	p.V607V	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2115	-	all_cancers(95;0.000662)		607					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.1821G>A	CCDS32045.1																																																																																				0.582	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		16	21	0	0	0	1	0	16	21				
NR0B1	190	broad.mit.edu	37	X	30322801	30322801	+	Silent	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:30322801C>T	ENST00000378970.4	-	2	1542	c.1308G>A	c.(1306-1308)ctG>ctA	p.L436L		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	436	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TGATGAATCTCAGCAGGAAAA	0.468																																						ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(1306-1308)ctG>ctA		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						187.0	153.0	165.0					X																	30322801		2202	4300	6502	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30322801C>T	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1308G>A	X.37:g.30322801C>T							p.L436L	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			2	1542	-			436			Ligand-binding (By similarity).		Q96F69	Silent	SNP	ENST00000378970.4	37	c.1308G>A	CCDS14223.1																																																																																				0.468	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		30	47	0	0	0	1	0	30	47				
GPR101	83550	broad.mit.edu	37	X	136113520	136113520	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:136113520G>A	ENST00000298110.1	-	1	313	c.314C>T	c.(313-315)aCg>aTg	p.T105M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T105M(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AACCAGGGCCGTGCAGAAGTG	0.612																																						ENST00000298110.1																			1	Substitution - Missense(1)	p.T105M(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(313-315)aCg>aTg		G protein-coupled receptor 101							65.0	51.0	56.0					X																	136113520		2202	4300	6502	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113520G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.314C>T	X.37:g.136113520G>A	ENSP00000298110:p.Thr105Met						p.T105M	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	313	-	Acute lymphoblastic leukemia(192;0.000127)		105					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.314C>T	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649616	0.47362	.	.	ENSG00000165370	ENST00000298110	T	0.19532	2.14	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42245	0.1194	M	0.67700	2.07	0.28310	N	0.922704	D	0.76494	0.999	D	0.68483	0.958	T	0.31052	-0.9957	9	0.87932	D	0	-12.6415	10.6131	0.45434	0.0:0.1903:0.8097:0.0	.	105	Q96P66	GP101_HUMAN	M	105	ENSP00000298110:T105M	ENSP00000298110:T105M	T	-	2	0	GPR101	135941186	1.000000	0.71417	0.841000	0.33234	0.964000	0.63967	4.241000	0.58707	2.027000	0.59764	0.600000	0.82982	ACG		0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			3	27	0	0	0	1	0	3	27				
TDRD7	23424	broad.mit.edu	37	9	100249532	100249532	+	Silent	SNP	A	A	G			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr9:100249532A>G	ENST00000355295.4	+	16	3289	c.2994A>G	c.(2992-2994)gaA>gaG	p.E998E	TDRD7_ENST00000422139.2_Silent_p.E924E|TDRD7_ENST00000540902.1_Silent_p.E318E	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	998	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GCAAACACGAATTAGTCAACA	0.423																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2992-2994)gaA>gaG		tudor domain containing 7							145.0	135.0	139.0					9																	100249532		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100249532A>G	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2994A>G	9.37:g.100249532A>G						TDRD7_ENST00000422139.2_Silent_p.E924E|TDRD7_ENST00000540902.1_Silent_p.E318E	p.E998E	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			16	3289	+		Acute lymphoblastic leukemia(62;0.158)	998			Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.2994A>G	CCDS6725.1																																																																																				0.423	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		3	59	0	0	0	1	0	3	59				
PLXNA2	5362	broad.mit.edu	37	1	208269445	208269445	+	Silent	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr1:208269445C>T	ENST00000367033.3	-	8	2668	c.1911G>A	c.(1909-1911)ctG>ctA	p.L637L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	637					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCTTGGACCTCAGCTGTAGCT	0.468																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1909-1911)ctG>ctA		plexin A2							208.0	221.0	216.0					1																	208269445		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208269445C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1911G>A	1.37:g.208269445C>T							p.L637L	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	8	2668	-			637					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.1911G>A	CCDS31013.1																																																																																				0.468	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		65	124	0	0	0	1	0	65	124				
SDHAP1	255812	broad.mit.edu	37	3	195698212	195698212	+	RNA	SNP	C	C	A	rs377293154		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr3:195698212C>A	ENST00000427841.1	-	0	1660					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TGCTGAGTCGCAGTTCCGATG	0.453																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698212C>A	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698212C>A								NR_003264.2						0	1660	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.453	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	18	1	0	5.18039e-06	1	5.29301e-06	3	18				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	38	0	0	0	1	0	3	38				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	55	0	0	0	1	0	4	55				
BPTF	2186	broad.mit.edu	37	17	65908048	65908048	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr17:65908048C>T	ENST00000321892.4	+	13	4487	c.4426C>T	c.(4426-4428)Ccg>Tcg	p.P1476S	BPTF_ENST00000424123.3_Missense_Mutation_p.P1337S|BPTF_ENST00000335221.5_Missense_Mutation_p.P1476S|BPTF_ENST00000306378.6_Missense_Mutation_p.P1350S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1476					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGACAGGCTGCCGGTCAAGGG	0.418																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4426-4428)Ccg>Tcg		bromodomain PHD finger transcription factor							55.0	54.0	54.0					17																	65908048		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65908048C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4426C>T	17.37:g.65908048C>T	ENSP00000315454:p.Pro1476Ser					BPTF_ENST00000424123.3_Missense_Mutation_p.P1337S|BPTF_ENST00000335221.5_Missense_Mutation_p.P1476S|BPTF_ENST00000306378.6_Missense_Mutation_p.P1350S	p.P1476S			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4487	+	all_cancers(12;6e-11)		1476					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4426C>T		.	.	.	.	.	.	.	.	.	.	C	0.013	-1.630878	0.00813	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.60548	0.18;0.19;0.19	5.58	4.59	0.56863	.	.	.	.	.	T	0.34890	0.0913	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.17561	-1.0365	9	0.23302	T	0.38	0.0688	9.1005	0.36664	0.3521:0.5244:0.1234:0.0	.	1350;1476	Q12830-2;Q12830-4	.;.	S	1350;1476;1476	ENSP00000307208:P1350S;ENSP00000334351:P1476S;ENSP00000315454:P1476S	ENSP00000307208:P1350S	P	+	1	0	BPTF	63338510	0.005000	0.15991	0.008000	0.14137	0.002000	0.02628	0.956000	0.29202	1.299000	0.44798	0.650000	0.86243	CCG		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		3	22	0	0	0	1	0	3	22				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	50	0	0	0	1	0	5	50				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	40	1	0	0.000442599	1	0.000442599	4	40				
SALL2	6297	broad.mit.edu	37	14	21992320	21992320	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr14:21992320C>T	ENST00000327430.3	-	2	1836	c.1542G>A	c.(1540-1542)atG>atA	p.M514I	SALL2_ENST00000450879.2_Missense_Mutation_p.M377I|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCACTGCTTTCATGAGCACAA	0.552																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(1540-1542)atG>atA		spalt-like transcription factor 2							47.0	46.0	46.0					14																	21992320		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992320C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1542G>A	14.37:g.21992320C>T	ENSP00000333537:p.Met514Ile					SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.M377I	p.M514I	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1836	-	all_cancers(95;0.000662)		514					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.1542G>A	CCDS32045.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298058	0.40694	.	.	ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876	T;T	0.03982	3.81;3.74	4.6	4.6	0.57074	.	0.000000	0.47455	D	0.000227	T	0.06096	0.0158	L	0.50333	1.59	0.35780	D	0.821572	B;B;B	0.22003	0.063;0.063;0.063	B;B;B	0.19666	0.026;0.026;0.026	T	0.23511	-1.0186	10	0.12103	T	0.63	-11.4966	14.949	0.71057	0.0:1.0:0.0:0.0	.	377;377;514	B4DK65;E7EW59;Q9Y467	.;.;SALL2_HUMAN	I	514;377;514	ENSP00000333537:M514I;ENSP00000396773:M377I	ENSP00000333537:M514I	M	-	3	0	SALL2	21062160	0.994000	0.37717	1.000000	0.80357	0.914000	0.54420	1.214000	0.32419	2.385000	0.81259	0.563000	0.77884	ATG		0.552	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		21	15	0	0	0	1	0	21	15				
OR10AG1	282770	broad.mit.edu	37	11	55735160	55735160	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:55735160C>A	ENST00000312345.2	-	1	830	c.780G>T	c.(778-780)agG>agT	p.R260S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTTTCCCCATCCTTTGAAACT	0.383																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(778-780)agG>agT		olfactory receptor, family 10, subfamily AG, member 1							70.0	71.0	70.0					11																	55735160		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735160C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.780G>T	11.37:g.55735160C>A	ENSP00000311477:p.Arg260Ser						p.R260S	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	830	-	Esophageal squamous(21;0.0137)		260					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.780G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	8.828	0.939132	0.18281	.	.	ENSG00000174970	ENST00000312345	T	0.00051	8.81	5.37	-1.7	0.08159	GPCR, rhodopsin-like superfamily (1);	0.478606	0.19442	N	0.114146	T	0.00039	0.0001	N	0.01729	-0.75	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.32481	-0.9905	10	0.35671	T	0.21	.	0.3584	0.00361	0.2607:0.2423:0.1341:0.3629	.	260	Q8NH19	O10AG_HUMAN	S	260	ENSP00000311477:R260S	ENSP00000311477:R260S	R	-	3	2	OR10AG1	55491736	0.000000	0.05858	0.000000	0.03702	0.687000	0.40016	-4.874000	0.00175	0.046000	0.15833	-0.499000	0.04595	AGG		0.383	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		7	24	1	0	1.26484e-09	1	1.32106e-09	7	24				
SPATA31D1	389763	broad.mit.edu	37	9	84603866	84603866	+	Missense_Mutation	SNP	G	G	A	rs184147253		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr9:84603866G>A	ENST00000344803.2	+	1	180	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	45					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTGTTCTACGTGGTATTGAC	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17545	0.0		0.0	False		,,,				2504	0.0					ENST00000344803.2																			0											c.(133-135)Gtg>Atg		SPATA31 subfamily D, member 1							281.0	236.0	250.0					9																	84603866		1890	4103	5993	SO:0001583	missense	389763							g.chr9:84603866G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.133G>A	9.37:g.84603866G>A	ENSP00000341988:p.Val45Met						p.V45M	NM_001001670.2	NP_001001670.1					1	180	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.133G>A	CCDS47986.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	6.624	0.483542	0.12581	.	.	ENSG00000214929	ENST00000344803	T	0.05199	3.48	2.63	-0.589	0.11683	.	1.210740	0.06415	N	0.721388	T	0.05823	0.0152	L	0.34521	1.04	0.09310	N	1	D	0.56968	0.978	P	0.45712	0.491	T	0.25502	-1.0130	10	0.44086	T	0.13	0.1061	1.1868	0.01856	0.215:0.4019:0.2368:0.1463	.	45	Q6ZQQ2	F75D1_HUMAN	M	45	ENSP00000341988:V45M	ENSP00000341988:V45M	V	+	1	0	FAM75D1	83793686	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.208000	0.09371	-0.111000	0.12001	-0.367000	0.07326	GTG		0.463	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		14	23	0	0	0	1	0	14	23				
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs59641550		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			5	304	0	0	0	1	0	5	304				
WASH3P	374666	broad.mit.edu	37	15	102516411	102516411	+	RNA	SNP	C	C	G			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr15:102516411C>G	ENST00000557932.1	+	0	1359				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TCCATCCCTCCTCTGCCGCCA	0.662																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516411C>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516411C>G														0	1359	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	c	13.72	2.320735	0.41096	.	.	ENSG00000185596	ENST00000398121;ENST00000378819	.	.	.	0.906	0.906	0.19314	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	.	.	.	0.48087	D	0.999585	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-1.2973	5.193	0.15220	0.0:1.0:0.0:0.0	.	.	.	.	R	445;340	.	.	P	+	2	0	WASH3P	100333934	1.000000	0.71417	0.931000	0.37212	0.688000	0.40055	6.269000	0.72558	0.793000	0.33875	0.184000	0.17185	CCT		0.662	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	30	0	0	0	1	0	4	30				
OR5M1	390168	broad.mit.edu	37	11	56380282	56380282	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:56380282C>A	ENST00000526538.1	-	1	696	c.697G>T	c.(697-699)Ggc>Tgc	p.G233C		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTGTGCCTGCCTTCAGCAGAA	0.443																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(697-699)Ggc>Tgc		olfactory receptor, family 5, subfamily M, member 1							50.0	47.0	48.0					11																	56380282		1799	4030	5829	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380282C>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.697G>T	11.37:g.56380282C>A	ENSP00000435416:p.Gly233Cys						p.G233C	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	696	-			233					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.697G>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612904	0.46631	.	.	ENSG00000255012	ENST00000526538	T	0.00304	8.19	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01421	0.0046	H	0.98754	4.32	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.19128	-1.0315	9	0.87932	D	0	.	14.3562	0.66740	0.0:1.0:0.0:0.0	.	233	Q8NGP8	OR5M1_HUMAN	C	233	ENSP00000435416:G233C	ENSP00000435416:G233C	G	-	1	0	OR5M1	56136858	0.000000	0.05858	1.000000	0.80357	0.838000	0.47535	0.081000	0.14823	1.949000	0.56562	0.280000	0.19369	GGC		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		22	42	1	0	5.77227e-19	1	6.16584e-19	22	42				
TLR7	51284	broad.mit.edu	37	X	12905565	12905565	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:12905565C>G	ENST00000380659.3	+	3	2077	c.1938C>G	c.(1936-1938)ttC>ttG	p.F646L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	646					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TACAATTATTCAAGAATCTGC	0.363																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1936-1938)ttC>ttG		toll-like receptor 7	Imiquimod(DB00724)						65.0	70.0	68.0					X																	12905565		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905565C>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1938C>G	X.37:g.12905565C>G	ENSP00000370034:p.Phe646Leu						p.F646L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	2077	+			646					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1938C>G	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396627	0.42512	.	.	ENSG00000196664	ENST00000380659	T	0.76968	-1.06	5.46	2.68	0.31781	.	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	M	0.89095	3.005	0.49213	D	0.999762	D	0.76494	0.999	D	0.78314	0.991	D	0.86558	0.1839	10	0.87932	D	0	.	9.5395	0.39242	0.0:0.6186:0.0:0.3814	.	646	Q9NYK1	TLR7_HUMAN	L	646	ENSP00000370034:F646L	ENSP00000370034:F646L	F	+	3	2	TLR7	12815486	0.959000	0.32827	0.993000	0.49108	0.918000	0.54935	0.148000	0.16224	0.138000	0.18790	0.529000	0.55759	TTC		0.363	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		34	57	0	0	0	1	0	34	57				
FOCAD	54914	broad.mit.edu	37	9	20764983	20764983	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr9:20764983C>G	ENST00000380249.1	+	9	974	c.610C>G	c.(610-612)Caa>Gaa	p.Q204E	FOCAD_ENST00000338382.6_Missense_Mutation_p.Q204E	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	204						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGTCTTACTTCAACCCCAGGT	0.403																																						ENST00000380249.1																			0											c.(610-612)Caa>Gaa		focadhesin							172.0	150.0	157.0					9																	20764983		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20764983C>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.610C>G	9.37:g.20764983C>G	ENSP00000369599:p.Gln204Glu					FOCAD_ENST00000338382.6_Missense_Mutation_p.Q204E	p.Q204E	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			9	974	+			204					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.610C>G	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322087	0.23994	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.22743	1.94;1.94	5.98	3.08	0.35506	Domain of unknown function DUF3730 (1);	0.254670	0.39834	N	0.001250	T	0.14527	0.0351	L	0.29908	0.895	0.38819	D	0.955597	B	0.06786	0.001	B	0.09377	0.004	T	0.09509	-1.0671	10	0.25751	T	0.34	-8.8552	10.8361	0.46688	0.3768:0.5019:0.1213:0.0	.	204	Q5VW36	K1797_HUMAN	E	204	ENSP00000369599:Q204E;ENSP00000344307:Q204E	ENSP00000344307:Q204E	Q	+	1	0	KIAA1797	20754983	0.997000	0.39634	0.998000	0.56505	0.990000	0.78478	0.661000	0.25023	0.387000	0.25024	0.591000	0.81541	CAA		0.403	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		24	27	0	0	0	1	0	24	27				
TNRC6A	27327	broad.mit.edu	37	16	24801369	24801369	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr16:24801369C>T	ENST00000395799.3	+	6	1535	c.1406C>T	c.(1405-1407)tCa>tTa	p.S469L	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S469L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	469	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AACTCCGGTTCAGTGCAGAAT	0.438																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1405-1407)tCa>tTa		trinucleotide repeat containing 6A							56.0	54.0	55.0					16																	24801369		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801369C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1406C>T	16.37:g.24801369C>T	ENSP00000379144:p.Ser469Leu					TNRC6A_ENST00000315183.7_Missense_Mutation_p.S469L	p.S469L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1535	+			469			Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1406C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990871	0.35131	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11930	2.74;2.73	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	T	0.12050	0.0293	L	0.29908	0.895	0.80722	D	1	B;B;B	0.21753	0.037;0.008;0.06	B;B;B	0.19148	0.024;0.009;0.018	T	0.03981	-1.0987	10	0.52906	T	0.07	-1.8203	13.5436	0.61690	0.0:0.9292:0.0:0.0708	.	216;469;469	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	L	469	ENSP00000326900:S469L;ENSP00000379144:S469L	ENSP00000326900:S469L	S	+	2	0	TNRC6A	24708870	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.105000	0.64591	2.816000	0.96949	0.563000	0.77884	TCA		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		15	17	0	0	0	1	0	15	17				
CNTN5	53942	broad.mit.edu	37	11	100221518	100221518	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:100221518G>C	ENST00000524871.1	+	24	3406	c.3116G>C	c.(3115-3117)gGa>gCa	p.G1039A	CNTN5_ENST00000528682.1_Missense_Mutation_p.G1039A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.G965A|CNTN5_ENST00000279463.3_Missense_Mutation_p.G1039A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1039	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAGATGCTGGAGTCTATATT	0.398																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3115-3117)gGa>gCa		contactin 5							124.0	122.0	123.0					11																	100221518		1887	4111	5998	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100221518G>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3116G>C	11.37:g.100221518G>C	ENSP00000435637:p.Gly1039Ala					CNTN5_ENST00000418526.2_Missense_Mutation_p.G965A|CNTN5_ENST00000279463.3_Missense_Mutation_p.G1039A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.G1039A	p.G1039A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	24	3406	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	1039			Fibronectin type-III 4.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.3116G>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493527	0.64186	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69842	0.3156	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68138	-0.5488	9	.	.	.	.	18.1597	0.89704	0.0:0.0:1.0:0.0	.	965;1039	O94779-2;O94779	.;CNTN5_HUMAN	A	1039;1039;965;1039	ENSP00000436185:G1039A;ENSP00000435637:G1039A;ENSP00000393229:G965A;ENSP00000279463:G1039A	.	G	+	2	0	CNTN5	99726728	1.000000	0.71417	0.985000	0.45067	0.500000	0.33767	6.251000	0.72441	2.517000	0.84864	0.555000	0.69702	GGA		0.398	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		12	18	0	0	0	1	0	12	18				
ID4	3400	broad.mit.edu	37	6	19838858	19838858	+	Nonstop_Mutation	SNP	G	G	C			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr6:19838858G>C	ENST00000378700.3	+	2	854	c.485G>C	c.(484-486)tGa>tCa	p.*162S	RP1-167F1.2_ENST00000432171.2_RNA	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	inhibitor of DNA binding 4, dominant negative helix-loop-helix protein	0					cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex neuron differentiation (GO:0021895)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|hippocampus development (GO:0021766)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast proliferation (GO:0007405)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(1)	1	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)			CTGTGCCGCTGAGCCGCGCTG	0.672																																					Esophageal Squamous(13;105 518 19978 28644 46870)	ENST00000378700.3																			0				lung(1)	1						c.(484-486)tGa>tCa		inhibitor of DNA binding 4, dominant negative helix-loop-helix protein							87.0	76.0	80.0					6																	19838858		2203	4300	6503	SO:0001578	stop_lost	3400						transcription corepressor activity	g.chr6:19838858G>C	U16153	CCDS4544.1	6p22.3	2013-05-21			ENSG00000172201	ENSG00000172201		"""Basic helix-loop-helix proteins"""	5363	protein-coding gene	gene with protein product		600581				7665172	Standard	NM_001546		Approved	bHLHb27	uc003ncw.4	P47928	OTTHUMG00000014333	ENST00000378700.3:c.485G>C	6.37:g.19838858G>C	ENSP00000367972:p.*162Serext*10					RP1-167F1.2_ENST00000432171.2_RNA	p.*162S	NM_001546.3	NP_001537.1	P47928	ID4_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621)		2	854	+	Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12)		0					Q13005	Nonstop_Mutation	SNP	ENST00000378700.3	37	c.485G>C	CCDS4544.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516548	0.44763	.	.	ENSG00000172201	ENST00000378700	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1194	0.48279	0.0864:0.0:0.9136:0.0	.	.	.	.	S	162	.	.	X	+	2	2	ID4	19946837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.266000	0.58871	2.193000	0.70182	0.462000	0.41574	TGA		0.672	ID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039979.1	NM_001546		19	32	0	0	0	1	0	19	32				
SLCO2B1	11309	broad.mit.edu	37	11	74880293	74880293	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:74880293G>A	ENST00000289575.5	+	5	919	c.524G>A	c.(523-525)gGc>gAc	p.G175D	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G153D|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G59D|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G31D	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	175					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCTCCAATGGCAACTGCTCA	0.587																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(523-525)gGc>gAc		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						61.0	61.0	61.0					11																	74880293		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74880293G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.524G>A	11.37:g.74880293G>A	ENSP00000289575:p.Gly175Asp					SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G59D|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G153D|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G31D	p.G175D	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			5	919	+			175					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.524G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	0.308	-0.969430	0.02232	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.07	3.19	0.36642	Major facilitator superfamily domain, general substrate transporter (1);	3.641030	0.00597	N	0.000373	T	0.23171	0.0560	N	0.04297	-0.235	0.20926	N	0.999826	B;B	0.13145	0.007;0.002	B;B	0.10450	0.005;0.003	T	0.28170	-1.0052	10	0.09843	T	0.71	.	7.9328	0.29912	0.1878:0.0:0.8122:0.0	.	31;175	E9PPU8;O94956	.;SO2B1_HUMAN	D	175;59;31;153;51	ENSP00000289575:G175D;ENSP00000434112:G59D;ENSP00000436324:G31D;ENSP00000388912:G153D;ENSP00000434742:G51D	ENSP00000289575:G175D	G	+	2	0	SLCO2B1	74557941	0.008000	0.16893	0.163000	0.22734	0.007000	0.05969	1.125000	0.31332	0.706000	0.31912	0.650000	0.86243	GGC		0.587	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		3	40	0	0	0	1	0	3	40				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	171	0	0	0	1	0	5	171				
TMEM143	55260	broad.mit.edu	37	19	48836571	48836571	+	Missense_Mutation	SNP	C	C	T	rs141028740		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr19:48836571C>T	ENST00000293261.3	-	8	1601	c.1285G>A	c.(1285-1287)Gga>Aga	p.G429R	TMEM143_ENST00000435956.3_Missense_Mutation_p.G394R|TMEM143_ENST00000541566.1_Missense_Mutation_p.G319R|TMEM143_ENST00000436660.2_Missense_Mutation_p.G364R|TMEM143_ENST00000377431.2_Missense_Mutation_p.G329R	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	429					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGGTACAATCCCATGCTGGGG	0.622																																						ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(1285-1287)Gga>Aga		transmembrane protein 143		C	ARG/GLY	0,4406		0,0,2203	52.0	55.0	54.0		1285	3.2	0.1	19	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM143	NM_018273.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	429/460	48836571	1,13005	2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48836571C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1285G>A	19.37:g.48836571C>T	ENSP00000293261:p.Gly429Arg					TMEM143_ENST00000435956.3_Missense_Mutation_p.G394R|TMEM143_ENST00000377431.2_Missense_Mutation_p.G329R|TMEM143_ENST00000541566.1_Missense_Mutation_p.G319R|TMEM143_ENST00000436660.2_Missense_Mutation_p.G364R	p.G429R	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	8	1601	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	429					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.1285G>A	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798249	0.70567	0.0	1.16E-4	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.55588	0.51;0.59;0.52	4.27	3.15	0.36227	.	0.000000	0.38720	N	0.001594	T	0.56292	0.1975	L	0.27053	0.805	0.09310	N	1	D;D;D;D	0.89917	0.969;1.0;1.0;1.0	P;D;D;D	0.91635	0.585;0.988;0.96;0.999	T	0.42396	-0.9454	10	0.72032	D	0.01	-24.4636	10.201	0.43084	0.0:0.6846:0.3154:0.0	.	364;329;394;429	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	R	429;329;394;364;319	ENSP00000293261:G429R;ENSP00000397038:G394R;ENSP00000444275:G319R	ENSP00000293261:G429R	G	-	1	0	TMEM143	53528383	0.026000	0.19158	0.145000	0.22337	0.934000	0.57294	1.525000	0.35953	2.393000	0.81446	0.462000	0.41574	GGA		0.622	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		17	61	0	0	0	1	0	17	61				
LOC101927905	101927905	broad.mit.edu	37	12	8386973	8386973	+	lincRNA	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr12:8386973C>T	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							AGCCAGCCTCCGCAGGACCCC	0.592													.|||	4	0.000798722	0.0008	0.0029	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386973C>T																													12.37:g.8386973C>T														0	793	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.592	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			4	51	0	0	0	1	0	4	51				
TRBV19	28568	broad.mit.edu	37	7	142326961	142326961	+	RNA	SNP	C	C	T	rs78434792		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr7:142326961C>T	ENST00000390393.3	+	0	467									T cell receptor beta variable 19																		CAGCGTCTCTCGGGAGAAGAA	0.488																																						ENST00000390393.3																			0																				135.0	137.0	136.0					7																	142326961		1921	4124	6045			0							g.chr7:142326961C>T	U48260		7q34	2012-02-07			ENSG00000211746	ENSG00000211746		"""T cell receptors / TRB locus"""	12194	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV17S1A1T, TCRBV19S1			OTTHUMG00000158877		7.37:g.142326961C>T														0	467	+									RNA	SNP	ENST00000390393.3	37																																																																																						0.488	TRBV19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352485.2	NG_001333		10	111	0	0	0	1	0	10	111				
DOCK10	55619	broad.mit.edu	37	2	225721649	225721649	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:225721649G>A	ENST00000258390.7	-	15	1803	c.1736C>T	c.(1735-1737)tCa>tTa	p.S579L	DOCK10_ENST00000409592.3_Missense_Mutation_p.S573L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	579					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAACAATGGTGAAAATCTTGA	0.308																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1717-1719)tCa>tTa		dedicator of cytokinesis 10							106.0	102.0	103.0					2																	225721649		1828	4084	5912	SO:0001583	missense	55619						GTP binding	g.chr2:225721649G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1736C>T	2.37:g.225721649G>A	ENSP00000258390:p.Ser579Leu					DOCK10_ENST00000258390.7_Missense_Mutation_p.S579L	p.S573L			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	15	1831	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	579					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1718C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077355	0.94000	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.04156	3.69;3.69	5.53	5.53	0.82687	.	0.127708	0.53938	D	0.000042	T	0.27169	0.0666	M	0.85859	2.78	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.918	T	0.01269	-1.1400	10	0.51188	T	0.08	.	19.4441	0.94840	0.0:0.0:1.0:0.0	.	579;573	Q96BY6;B3FL70	DOC10_HUMAN;.	L	573;579	ENSP00000386694:S573L;ENSP00000258390:S579L	ENSP00000258390:S579L	S	-	2	0	DOCK10	225429893	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.471000	0.97696	2.589000	0.87451	0.579000	0.79373	TCA		0.308	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			6	8	0	0	0	1	0	6	8				
MORC4	79710	broad.mit.edu	37	X	106224676	106224676	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chrX:106224676C>G	ENST00000355610.4	-	6	980	c.706G>C	c.(706-708)Gat>Cat	p.D236H	MORC4_ENST00000535534.1_5'UTR|MORC4_ENST00000255495.7_Missense_Mutation_p.D236H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	236						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TGATCTGTATCAAAGTCCAAC	0.383																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(706-708)Gat>Cat		MORC family CW-type zinc finger 4							127.0	116.0	120.0					X																	106224676		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106224676C>G	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.706G>C	X.37:g.106224676C>G	ENSP00000347821:p.Asp236His					MORC4_ENST00000255495.7_Missense_Mutation_p.D236H|MORC4_ENST00000535534.1_5'UTR	p.D236H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			6	980	-			236					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.706G>C	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392097	0.62066	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	T;T	0.74106	-0.81;-0.81	4.81	2.97	0.34412	ATPase-like, ATP-binding domain (1);	0.128054	0.52532	D	0.000079	T	0.80470	0.4629	M	0.69248	2.105	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66847	0.921;0.947	T	0.79560	-0.1753	10	0.72032	D	0.01	-6.3986	6.0982	0.20033	0.1921:0.7029:0.0:0.105	.	236;236	A1YR23;Q8TE76	.;MORC4_HUMAN	H	236	ENSP00000347821:D236H;ENSP00000255495:D236H	ENSP00000255495:D236H	D	-	1	0	MORC4	106111332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.813000	0.48002	1.042000	0.40150	0.594000	0.82650	GAT		0.383	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		20	44	0	0	0	1	0	20	44				
ZFC3H1	196441	broad.mit.edu	37	12	72013900	72013900	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr12:72013900C>T	ENST00000378743.3	-	26	5213	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1619					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTGCAGCCTCATACCTTAAC	0.353																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4855-4857)Gag>Aag		zinc finger, C3H1-type containing							64.0	57.0	59.0					12																	72013900		1844	4089	5933	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72013900C>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4855G>A	12.37:g.72013900C>T	ENSP00000368017:p.Glu1619Lys						p.E1619K	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			26	5213	-			1619					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4855G>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054513	0.93793	.	.	ENSG00000133858	ENST00000378743	T	0.36157	1.27	5.07	5.07	0.68467	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.116424	0.56097	D	0.000021	T	0.28830	0.0715	L	0.27053	0.805	0.80722	D	1	P	0.47762	0.9	B	0.38500	0.275	T	0.13202	-1.0518	10	0.56958	D	0.05	.	18.6356	0.91378	0.0:1.0:0.0:0.0	.	1619	O60293	ZC3H1_HUMAN	K	1619	ENSP00000368017:E1619K	ENSP00000368017:E1619K	E	-	1	0	ZFC3H1	70300167	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.983000	0.63832	2.632000	0.89209	0.563000	0.77884	GAG		0.353	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		8	15	0	0	0	1	0	8	15				
OR52A1	23538	broad.mit.edu	37	11	5172741	5172741	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:5172741G>A	ENST00000380367.1	-	2	1276	c.859C>T	c.(859-861)Cct>Tct	p.P287S	OR52A1_ENST00000328942.1_Missense_Mutation_p.P287S			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	287					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAATGGAGGGACCAGCAAG	0.408																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(859-861)Cct>Tct		olfactory receptor, family 52, subfamily A, member 1							140.0	144.0	142.0					11																	5172741		2201	4298	6499	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172741G>A	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.859C>T	11.37:g.5172741G>A	ENSP00000369725:p.Pro287Ser					OR52A1_ENST00000328942.1_Missense_Mutation_p.P287S	p.P287S			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1276	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	287					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.859C>T	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539434	0.85917	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.35048	1.33;1.33	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.69387	0.3105	M	0.92880	3.355	0.50813	D	0.999894	D	0.89917	1.0	D	0.97110	1.0	T	0.77890	-0.2419	10	0.87932	D	0	.	17.0037	0.86387	0.0:0.0:1.0:0.0	.	287	Q9UKL2	O52A1_HUMAN	S	287	ENSP00000369725:P287S;ENSP00000333684:P287S	ENSP00000333684:P287S	P	-	1	0	OR52A1	5129317	1.000000	0.71417	0.992000	0.48379	0.887000	0.51463	6.015000	0.70791	2.603000	0.88011	0.655000	0.94253	CCT		0.408	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		36	39	0	0	0	1	0	36	39				
AFM	173	broad.mit.edu	37	4	74350072	74350072	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr4:74350072G>A	ENST00000226355.3	+	3	328	c.235G>A	c.(235-237)Gct>Act	p.A79T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	79	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGATGTATGGCTGACAAGAC	0.373																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(235-237)Gct>Act		afamin							109.0	110.0	110.0					4																	74350072		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74350072G>A	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.235G>A	4.37:g.74350072G>A	ENSP00000226355:p.Ala79Thr						p.A79T	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	328	+	Breast(15;0.00102)		79			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.235G>A	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310177	0.60414	.	.	ENSG00000079557	ENST00000226355	T	0.73575	-0.76	5.09	4.25	0.50352	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.406836	0.24962	N	0.034211	T	0.80232	0.4585	M	0.73217	2.22	0.09310	N	1	D	0.63880	0.993	P	0.57620	0.824	T	0.71041	-0.4707	10	0.45353	T	0.12	.	9.403	0.38444	0.0988:0.0:0.9012:0.0	.	79	P43652	AFAM_HUMAN	T	79	ENSP00000226355:A79T	ENSP00000226355:A79T	A	+	1	0	AFM	74568936	0.045000	0.20229	0.003000	0.11579	0.009000	0.06853	2.930000	0.48924	1.154000	0.42482	0.650000	0.86243	GCT		0.373	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			13	29	0	0	0	1	0	13	29				
BCAN	63827	broad.mit.edu	37	1	156628485	156628485	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr1:156628485G>A	ENST00000329117.5	+	13	2924	c.2588G>A	c.(2587-2589)cGt>cAt	p.R863H	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	863	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGAACGGTCGTTGGGAGGCC	0.622																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2587-2589)cGt>cAt		brevican							69.0	72.0	71.0					1																	156628485		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156628485G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2588G>A	1.37:g.156628485G>A	ENSP00000331210:p.Arg863His					BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.R863H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			13	2924	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		863			Sushi.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2588G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	0.627	-0.818612	0.02776	.	.	ENSG00000132692	ENST00000329117	T	0.65916	-0.18	4.96	-9.92	0.00455	Complement control module (2);Sushi/SCR/CCP (3);	1.743320	0.03457	N	0.211675	T	0.12603	0.0306	N	0.05306	-0.075	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.04454	-1.0950	10	0.27082	T	0.32	2.3827	6.5287	0.22314	0.4563:0.0:0.1076:0.4361	.	863	Q96GW7	PGCB_HUMAN	H	863	ENSP00000331210:R863H	ENSP00000331210:R863H	R	+	2	0	BCAN	154895109	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.833000	0.00355	-2.027000	0.00932	-1.223000	0.01593	CGT		0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		4	78	0	0	0	1	0	4	78				
TPBG	7162	broad.mit.edu	37	6	83074982	83074982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr6:83074982C>T	ENST00000369750.3	+	2	921	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	TPBG_ENST00000535040.1_Nonsense_Mutation_p.Q102*|TPBG_ENST00000543496.1_Nonsense_Mutation_p.Q102*			Q13641	TPBG_HUMAN	trophoblast glycoprotein	102					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TACCGGCAACCAGCTGGCCGT	0.721																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(304-306)Cag>Tag		trophoblast glycoprotein							13.0	14.0	14.0					6																	83074982		2147	4195	6342	SO:0001587	stop_gained	7162				cell adhesion	integral to plasma membrane		g.chr6:83074982C>T	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.304C>T	6.37:g.83074982C>T	ENSP00000358765:p.Gln102*					TPBG_ENST00000543496.1_Nonsense_Mutation_p.Q102*|TPBG_ENST00000535040.1_Nonsense_Mutation_p.Q102*	p.Q102*			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	921	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	102					A8K555	Nonsense_Mutation	SNP	ENST00000369750.3	37	c.304C>T	CCDS4995.1	.	.	.	.	.	.	.	.	.	.	C	40	8.213317	0.98709	.	.	ENSG00000146242	ENST00000535040;ENST00000369750;ENST00000543496	.	.	.	4.11	1.34	0.21922	.	1.164140	0.06354	N	0.710476	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4332	4.5381	0.12043	0.1525:0.601:0.0:0.2465	.	.	.	.	X	102	.	ENSP00000358765:Q102X	Q	+	1	0	TPBG	83131701	0.000000	0.05858	0.041000	0.18516	0.969000	0.65631	0.469000	0.22067	0.073000	0.16731	0.462000	0.41574	CAG		0.721	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			13	17	0	0	0	1	0	13	17				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			0							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	40	0	0	0	1	0	5	40				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	31	0	0	0	1	0	15	31				
RBM43	375287	broad.mit.edu	37	2	152108098	152108098	+	Silent	SNP	C	C	T			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:152108098C>T	ENST00000331426.5	-	4	547	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	132							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTTTTTTTTTCAGGTCTTTTA	0.378																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(394-396)ctG>ctA		RNA binding motif protein 43							74.0	83.0	80.0					2																	152108098		2189	4290	6479	SO:0001819	synonymous_variant	375287						nucleotide binding|RNA binding	g.chr2:152108098C>T	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.396G>A	2.37:g.152108098C>T							p.L132L	NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	547	-			132					B2RMT5	Silent	SNP	ENST00000331426.5	37	c.396G>A	CCDS2191.1																																																																																				0.378	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		19	37	0	0	0	1	0	19	37				
KLC4	89953	broad.mit.edu	37	6	43039904	43039904	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr6:43039904C>G	ENST00000394056.2	+	13	1894	c.1399C>G	c.(1399-1401)Ctg>Gtg	p.L467V	KLC4_ENST00000259708.3_Missense_Mutation_p.L485V|KLC4_ENST00000479388.1_Missense_Mutation_p.L467V|KLC4_ENST00000453940.2_Missense_Mutation_p.L390V|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000394058.1_Missense_Mutation_p.L467V|KLC4_ENST00000347162.5_Missense_Mutation_p.L467V			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	467						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			GAACACTACTCTGAGAAACCT	0.532																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(1399-1401)Ctg>Gtg		kinesin light chain 4							71.0	78.0	76.0					6																	43039904		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43039904C>G	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1399C>G	6.37:g.43039904C>G	ENSP00000377620:p.Leu467Val					KLC4_ENST00000347162.5_Missense_Mutation_p.L467V|KLC4_ENST00000479388.1_Missense_Mutation_p.L467V|KLC4_ENST00000394058.1_Missense_Mutation_p.L467V|KLC4_ENST00000453940.2_Missense_Mutation_p.L390V|KLC4_ENST00000259708.3_Missense_Mutation_p.L485V	p.L467V			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		13	1894	+			467					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.1399C>G	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738604	0.69304	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.66815	-0.23;1.02;-0.23;-0.23;-0.23;-0.23	6.04	3.33	0.38152	Tetratricopeptide-like helical (1);	0.000000	0.47455	D	0.000232	T	0.75309	0.3832	M	0.83953	2.67	0.58432	D	0.999991	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.85130	0.997;0.987;0.992	T	0.77830	-0.2442	10	0.54805	T	0.06	-30.4699	10.7825	0.46386	0.0:0.7988:0.0:0.2012	.	390;485;467	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	V	467;390;485;467;467;467	ENSP00000340221:L467V;ENSP00000395806:L390V;ENSP00000259708:L485V;ENSP00000418031:L467V;ENSP00000377620:L467V;ENSP00000377622:L467V	ENSP00000259708:L485V	L	+	1	2	KLC4	43147882	0.956000	0.32656	0.744000	0.31058	0.914000	0.54420	2.203000	0.42752	0.904000	0.36572	0.561000	0.74099	CTG		0.532	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		27	38	0	0	0	1	0	27	38				
LTBP1	4052	broad.mit.edu	37	2	33589390	33589391	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr2:33589390_33589391insA	ENST00000404816.2	+	30	4860_4861	c.4507_4508insA	c.(4507-4509)gaafs	p.E1503fs	LTBP1_ENST00000407925.1_Frame_Shift_Ins_p.E1177fs|LTBP1_ENST00000390003.4_Frame_Shift_Ins_p.E1178fs|LTBP1_ENST00000418533.2_Frame_Shift_Ins_p.E1135fs|LTBP1_ENST00000404525.1_Frame_Shift_Ins_p.E1124fs|LTBP1_ENST00000402934.1_Frame_Shift_Ins_p.E1122fs|LTBP1_ENST00000272273.5_Frame_Shift_Ins_p.E401fs|LTBP1_ENST00000354476.3_Frame_Shift_Ins_p.E1504fs			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1503	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGATGCGTCAGAAAAAAGATGT	0.421																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4507-4509)aaafs		latent transforming growth factor beta binding protein 1																																				SO:0001589	frameshift_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33589390_33589391insA		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4513dupA	2.37:g.33589396_33589396dupA	ENSP00000386043:p.Glu1503fs					LTBP1_ENST00000418533.2_Frame_Shift_Ins_p.K1135fs|LTBP1_ENST00000272273.5_Frame_Shift_Ins_p.K401fs|LTBP1_ENST00000402934.1_Frame_Shift_Ins_p.K1122fs|LTBP1_ENST00000407925.1_Frame_Shift_Ins_p.K1177fs|LTBP1_ENST00000404525.1_Frame_Shift_Ins_p.K1124fs|LTBP1_ENST00000354476.3_Frame_Shift_Ins_p.K1504fs|LTBP1_ENST00000390003.4_Frame_Shift_Ins_p.K1178fs	p.K1503fs			Q14766	LTBP1_HUMAN			30	4860_4861	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1503			EGF-like 16; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Frame_Shift_Ins	INS	ENST00000404816.2	37	c.4507_4508insA	CCDS33177.2																																																																																				0.421	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		11	27						11	27	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1282791	1282791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr11:1282791delC	ENST00000529681.1	+	49	17300	c.17242delC	c.(17242-17244)cccfs	p.P5749fs	MUC5B_ENST00000447027.1_Frame_Shift_Del_p.P5752fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5749					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)				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)		GCCCATGGCTCCCCCACACAC	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(17251-17253)ccfs		mucin 5B, oligomeric mucus/gel-forming							44.0	54.0	51.0					11																	1282791		2169	4248	6417	SO:0001589	frameshift_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1282791delC	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.17242delC	11.37:g.1282791delC	ENSP00000436812:p.Pro5749fs					MUC5B_ENST00000529681.1_Frame_Shift_Del_p.P5749fs	p.P5752fs			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	49	17309	+		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)	5749					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	c.17251delC	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	6						3	6	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-EM-A3SX-01A-11D-A22Z-08	TCGA-EM-A3SX-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c459dd6-3c2d-4180-a215-670b1120f3b2	a3f5c321-522d-4612-afeb-602eb0c19a0f	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			3	4						3	4	---	---	---	---
