#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
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	101	0	0	0	1	0	3	101				
TMC6	11322	broad.mit.edu	37	17	76120700	76120700	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:76120700G>C	ENST00000590602.1	-	8	955	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	TMC6_ENST00000306591.7_Missense_Mutation_p.L266V|TMC6_ENST00000322914.3_Missense_Mutation_p.L266V|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000589553.1_Missense_Mutation_p.L39V|TMC6_ENST00000392467.3_Missense_Mutation_p.L266V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	266				L -> P (in Ref. 2; AAP69874). {ECO:0000305}.	ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGGCCACCAGCAGCAGCAGC	0.672																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(796-798)Ctg>Gtg		transmembrane channel-like 6							19.0	19.0	19.0					17																	76120700		2183	4244	6427	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120700G>C	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.796C>G	17.37:g.76120700G>C	ENSP00000465261:p.Leu266Val					TMC6_ENST00000392467.3_Missense_Mutation_p.L266V|TMC6_ENST00000306591.7_Missense_Mutation_p.L266V|TMC6_ENST00000322914.3_Missense_Mutation_p.L266V|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000589553.1_Missense_Mutation_p.L39V	p.L266V			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		8	955	-			266	L -> P (in Ref. 2; AAP69874).				O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.796C>G	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650996	0.29336	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.54279	0.58;0.58;0.58	3.64	1.38	0.22167	.	1.022600	0.07798	N	0.955959	T	0.53498	0.1800	L	0.53249	1.67	0.33038	D	0.531028	P;D;D;D;B	0.58268	0.713;0.981;0.981;0.982;0.23	B;P;P;P;B	0.57101	0.246;0.813;0.761;0.664;0.082	T	0.56974	-0.7890	10	0.06891	T	0.86	-10.1151	4.5808	0.12257	0.211:0.184:0.605:0.0	.	103;266;39;266;266	B4E003;Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;.;TMC6_HUMAN	V	266	ENSP00000313408:L266V;ENSP00000376260:L266V;ENSP00000306405:L266V	ENSP00000306405:L266V	L	-	1	2	TMC6	73632295	0.228000	0.23718	0.981000	0.43875	0.146000	0.21551	0.651000	0.24873	0.497000	0.27926	0.462000	0.41574	CTG		0.672	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			2	16	0	0	0	1	0	2	16				
SACS	26278	broad.mit.edu	37	13	23908606	23908606	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr13:23908606C>T	ENST00000382292.3	-	9	9682	c.9409G>A	c.(9409-9411)Gat>Aat	p.D3137N	SACS_ENST00000402364.1_Missense_Mutation_p.D2387N|SACS_ENST00000382298.3_Missense_Mutation_p.D3137N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3137					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACAATAATCAACTAAAAGT	0.373																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(9409-9411)Gat>Aat		spastic ataxia of Charlevoix-Saguenay (sacsin)							31.0	33.0	32.0					13																	23908606		2201	4294	6495	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908606C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9409G>A	13.37:g.23908606C>T	ENSP00000371729:p.Asp3137Asn					SACS_ENST00000382292.3_Missense_Mutation_p.D3137N|SACS_ENST00000402364.1_Missense_Mutation_p.D2387N	p.D3137N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9997	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3137					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9409G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472705	0.84640	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86562	-2.0;-2.14;-2.0	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	L	0.27053	0.805	0.51233	D	0.999915	D	0.71674	0.998	D	0.68621	0.959	D	0.90260	0.4300	10	0.56958	D	0.05	.	19.9379	0.97147	0.0:1.0:0.0:0.0	.	3137	Q9NZJ4	SACS_HUMAN	N	3137;2387;3137	ENSP00000371729:D3137N;ENSP00000385844:D2387N;ENSP00000371735:D3137N	ENSP00000371729:D3137N	D	-	1	0	SACS	22806606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.710000	0.92621	0.555000	0.69702	GAT		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		11	19	0	0	0	1	0	11	19				
SLC6A17	388662	broad.mit.edu	37	1	110740737	110740737	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr1:110740737G>A	ENST00000331565.4	+	12	2340	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	619					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGGCCATGGCACTCCTGAT	0.657																																						ENST00000331565.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1855-1857)Gca>Aca		solute carrier family 6 (neutral amino acid transporter), member 17							86.0	76.0	79.0					1																	110740737		2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110740737G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1855G>A	1.37:g.110740737G>A	ENSP00000330199:p.Ala619Thr						p.A619T	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	12	2340	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	619					A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.1855G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383390	0.82792	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74947	-0.89	4.63	4.63	0.57726	.	0.242352	0.40818	N	0.001020	T	0.68988	0.3061	M	0.68728	2.09	0.36989	D	0.894673	B	0.26445	0.149	B	0.39419	0.299	T	0.74494	-0.3647	10	0.62326	D	0.03	.	12.56	0.56275	0.0:0.0:0.8334:0.1666	.	619	Q9H1V8	S6A17_HUMAN	T	619	ENSP00000330199:A619T	ENSP00000330199:A619T	A	+	1	0	SLC6A17	110542260	1.000000	0.71417	0.993000	0.49108	0.860000	0.49131	5.227000	0.65305	2.114000	0.64651	0.455000	0.32223	GCA		0.657	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		3	32	0	0	0	1	0	3	32				
PCDHB10	56126	broad.mit.edu	37	5	140572688	140572688	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr5:140572688G>T	ENST00000239446.4	+	1	747	c.563G>T	c.(562-564)gGc>gTc	p.G188V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	188	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGATGAAGGCATGATATAT	0.498																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(562-564)gGc>gTc									116.0	137.0	129.0					5																	140572688		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572688G>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.563G>T	5.37:g.140572688G>T	ENSP00000239446:p.Gly188Val						p.G188V	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	747	+			188			Cadherin 2.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.563G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046514	0.55110	.	.	ENSG00000120324	ENST00000239446	T	0.04502	3.61	3.52	2.64	0.31445	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28400	0.0702	H	0.95470	3.675	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.28713	-1.0035	9	0.87932	D	0	.	10.8847	0.46960	0.0956:0.0:0.9044:0.0	.	188	Q9UN67	PCDBA_HUMAN	V	188	ENSP00000239446:G188V	ENSP00000239446:G188V	G	+	2	0	PCDHB10	140552872	0.990000	0.36364	0.605000	0.28930	0.774000	0.43823	2.439000	0.44846	0.831000	0.34780	0.556000	0.70494	GGC		0.498	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		53	137	1	0	3.10202e-16	1	3.47426e-16	53	137				
CTNS	1497	broad.mit.edu	37	17	3560060	3560060	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:3560060A>G	ENST00000046640.3	+	9	1245	c.652A>G	c.(652-654)Atc>Gtc	p.I218V	RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Missense_Mutation_p.I110V|CTNS_ENST00000381870.3_Missense_Mutation_p.I218V|CTNS_ENST00000414524.2_Missense_Mutation_p.I71V	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	218					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CCTCACGCTGATCATCATCGT	0.592																																						ENST00000046640.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10						c.(652-654)Atc>Gtc		cystinosin, lysosomal cystine transporter	L-Cystine(DB00138)						121.0	96.0	105.0					17																	3560060		2203	4300	6503	SO:0001583	missense	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3560060A>G	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.652A>G	17.37:g.3560060A>G	ENSP00000046640:p.Ile218Val					CTNS_ENST00000441220.2_Missense_Mutation_p.I110V|CTNS_ENST00000414524.2_Missense_Mutation_p.I71V|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000381870.3_Missense_Mutation_p.I218V	p.I218V	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	9	1245	+			218					D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	c.652A>G	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	a	5.117	0.207271	0.09704	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000441220;ENST00000414524	D;D;D;D	0.96685	-3.62;-3.66;-4.09;-3.91	4.92	3.91	0.45181	.	0.192581	0.45606	N	0.000359	D	0.85678	0.5752	N	0.04787	-0.16	0.35227	D	0.776554	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.77667	-0.2502	10	0.06365	T	0.9	-11.1631	2.9994	0.06009	0.3624:0.2739:0.3637:0.0	.	110;218;218	F8W6Z1;O60931;O60931-2	.;CTNS_HUMAN;.	V	218;218;110;71	ENSP00000046640:I218V;ENSP00000371294:I218V;ENSP00000411465:I110V;ENSP00000395471:I71V	ENSP00000046640:I218V	I	+	1	0	CTNS	3506809	0.965000	0.33210	0.963000	0.40424	0.374000	0.29953	0.139000	0.16036	1.036000	0.39998	0.398000	0.26397	ATC		0.592	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		24	80	0	0	0	1	0	24	80				
BRWD3	254065	broad.mit.edu	37	X	79932312	79932312	+	Silent	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:79932312G>A	ENST00000373275.4	-	41	5421	c.5205C>T	c.(5203-5205)acC>acT	p.T1735T	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1735					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGAAAACATGGTATCAAATT	0.443																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(5203-5205)acC>acT		bromodomain and WD repeat domain containing 3							146.0	113.0	124.0					X																	79932312		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79932312G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5205C>T	X.37:g.79932312G>A							p.T1735T	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5421	-			1735					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.5205C>T	CCDS14447.1																																																																																				0.443	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		5	86	0	0	0	1	0	5	86				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			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	68	0	0	0	1	0	5	68				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			4	8	1	0	0.150653	1	0.150653	4	8				
IL12RB1	3594	broad.mit.edu	37	19	18183118	18183118	+	Silent	SNP	C	C	T	rs141737618		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr19:18183118C>T	ENST00000600835.2	-	10	1123	c.825G>A	c.(823-825)gcG>gcA	p.A275A	IL12RB1_ENST00000322153.7_Silent_p.A275A|IL12RB1_ENST00000593993.2_Silent_p.A275A			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	275	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCGTGCCAGGCGCCAGCCCTT	0.587																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(823-825)gcG>gcA		interleukin 12 receptor, beta 1		C	,	0,4406		0,0,2203	57.0	48.0	51.0		825,825	-5.0	0.0	19	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IL12RB1	NM_005535.1,NM_153701.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	275/663,275/382	18183118	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18183118C>T	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.825G>A	19.37:g.18183118C>T						IL12RB1_ENST00000593993.1_Silent_p.A275A|IL12RB1_ENST00000322153.6_Silent_p.A275A|IL12RB1_ENST00000430026.2_Silent_p.A275A	p.A275A			P42701	I12R1_HUMAN			10	1128	-			275			Fibronectin type-III 3.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.825G>A	CCDS54232.1																																																																																				0.587	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			9	19	0	0	0	1	0	9	19				
HCN4	10021	broad.mit.edu	37	15	73615170	73615170	+	Silent	SNP	C	C	T			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr15:73615170C>T	ENST00000261917.3	-	8	4257	c.3264G>A	c.(3262-3264)gcG>gcA	p.A1088A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1088					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTGGCTGAGACGCGGAGATGA	0.726																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(3262-3264)gcG>gcA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							8.0	12.0	10.0					15																	73615170		2144	4218	6362	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615170C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3264G>A	15.37:g.73615170C>T							p.A1088A	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4257	-			1088					Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.3264G>A	CCDS10248.1																																																																																				0.726	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		4	3	0	0	0	1	0	4	3				
FLNB	2317	broad.mit.edu	37	3	58149024	58149024	+	Missense_Mutation	SNP	G	G	A	rs572964946	byFrequency	TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr3:58149024G>A	ENST00000295956.4	+	43	7330	c.7165G>A	c.(7165-7167)Gcc>Acc	p.A2389T	FLNB_ENST00000429972.2_Missense_Mutation_p.A2378T|FLNB_ENST00000348383.5_Missense_Mutation_p.A2348T|FLNB_ENST00000419752.2_Missense_Mutation_p.A2209T|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000493452.1_Missense_Mutation_p.A2196T|FLNB-AS1_ENST00000472922.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.A2420T|FLNB_ENST00000358537.3_Missense_Mutation_p.A2365T|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2389	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.A2389T(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGTGTCCGCCTATGGCAC	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18702	0.0		0.0	False		,,,				2504	0.002					ENST00000295956.4																			1	Substitution - Missense(1)	p.A2389T(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7165-7167)Gcc>Acc		filamin B, beta							70.0	63.0	65.0					3																	58149024		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58149024G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7165G>A	3.37:g.58149024G>A	ENSP00000295956:p.Ala2389Thr					FLNB_ENST00000358537.3_Missense_Mutation_p.A2365T|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000429972.2_Missense_Mutation_p.A2378T|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.A2209T|FLNB_ENST00000348383.5_Missense_Mutation_p.A2348T|FLNB_ENST00000493452.1_Missense_Mutation_p.A2196T|FLNB_ENST00000490882.1_Missense_Mutation_p.A2420T	p.A2389T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	43	7330	+			2389			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.7165G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214689	0.79352	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.095107	0.64402	D	0.000001	D	0.95030	0.8391	H	0.94620	3.56	0.80722	D	1	P;D;P;P;P;P	0.62365	0.605;0.991;0.606;0.73;0.846;0.83	B;P;B;B;B;B	0.60473	0.27;0.875;0.355;0.404;0.311;0.39	D	0.96165	0.9118	10	0.87932	D	0	.	19.2174	0.93783	0.0:0.0:1.0:0.0	.	2365;2420;2196;2209;2378;2389	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	T	2389;2420;2365;2378;2348;2196;2209	ENSP00000295956:A2389T;ENSP00000420213:A2420T;ENSP00000351339:A2365T;ENSP00000415599:A2378T;ENSP00000232447:A2348T;ENSP00000418510:A2196T;ENSP00000414532:A2209T	ENSP00000295956:A2389T	A	+	1	0	FLNB	58124064	1.000000	0.71417	0.942000	0.38095	0.373000	0.29922	9.869000	0.99810	2.602000	0.87976	0.655000	0.94253	GCC		0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		3	66	0	0	0	1	0	3	66				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	28	0	0	0	1	0	3	28				
BRAT1	221927	broad.mit.edu	37	7	2583295	2583295	+	Silent	SNP	C	C	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr7:2583295C>A	ENST00000340611.4	-	5	988	c.732G>T	c.(730-732)gtG>gtT	p.V244V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	244					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCAGACAGGCCACGCGGGGAC	0.701																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(730-732)gtG>gtT		BRCA1-associated ATM activator 1							31.0	39.0	37.0					7																	2583295		2203	4296	6499	SO:0001819	synonymous_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583295C>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.732G>T	7.37:g.2583295C>A							p.V244V	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			5	988	-			244					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	c.732G>T	CCDS5334.1																																																																																				0.701	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		7	63	1	0	3.09899e-07	1	3.33737e-07	7	63				
MCAT	27349	broad.mit.edu	37	22	43529209	43529209	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr22:43529209T>C	ENST00000290429.6	-	4	1058	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	338					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCCCCTGCCCTTTTTCCTTTC	0.587																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1012-1014)aAg>aGg		malonyl CoA:ACP acyltransferase (mitochondrial)							139.0	141.0	141.0					22																	43529209		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529209T>C	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1013A>G	22.37:g.43529209T>C	ENSP00000290429:p.Lys338Arg					MCAT_ENST00000327555.5_3'UTR	p.K338R	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1058	-		Ovarian(80;0.0694)	338					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.1013A>G	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	T	4.035	0.004129	0.07866	.	.	ENSG00000100294	ENST00000290429	T	0.47177	0.85	5.46	2.22	0.28083	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase domain (1);	0.228467	0.45126	D	0.000387	T	0.36248	0.0960	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.22312	-1.0220	10	0.22109	T	0.4	-20.3472	9.4072	0.38469	0.0:0.1946:0.0:0.8054	.	338	Q8IVS2	FABD_HUMAN	R	338	ENSP00000290429:K338R	ENSP00000290429:K338R	K	-	2	0	MCAT	41859153	0.463000	0.25799	0.001000	0.08648	0.042000	0.13812	1.314000	0.33597	0.074000	0.16767	-0.254000	0.11334	AAG		0.587	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		4	223	0	0	0	1	0	4	223				
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T	rs200171403		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr19:7810766C>T	ENST00000315599.7	-	4	408	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCCGGGTCAGCTC	0.567																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)cGg>cAg		CD209 molecule							88.0	91.0	90.0					19																	7810766		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810766C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.386G>A	19.37:g.7810766C>T	ENSP00000315477:p.Arg129Gln					CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q	p.R129Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	408	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.386G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	0.564	-0.844081	0.02671	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;2.29	1.41	-2.82	0.05787	.	.	.	.	.	T	0.07413	0.0187	N	0.04787	-0.16	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.19935	0.038;0.002;0.002;0.012;0.021;0.005;0.013;0.02;0.04;0.021	B;B;B;B;B;B;B;B;B;B	0.12156	0.006;0.006;0.001;0.004;0.004;0.002;0.002;0.005;0.005;0.007	T	0.38866	-0.9641	9	0.09843	T	0.71	.	6.588	0.22632	0.0:0.4003:0.0:0.5997	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	Q	129;129;105;85;129;85;113	ENSP00000315477:R129Q;ENSP00000346373:R129Q;ENSP00000315407:R105Q;ENSP00000204801:R85Q;ENSP00000301357:R85Q	ENSP00000204801:R85Q	R	-	2	0	CD209	7716766	0.000000	0.05858	0.009000	0.14445	0.384000	0.30261	-1.923000	0.01567	-1.604000	0.01595	-1.804000	0.00617	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	177	0	0	0	1	0	5	177				
KLC4	89953	broad.mit.edu	37	6	43042382	43042382	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr6:43042382G>A	ENST00000394056.2	+	17	2327	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	KLC4_ENST00000259708.3_Missense_Mutation_p.S629N|PTK7_ENST00000481273.1_5'Flank|PTK7_ENST00000345201.2_5'Flank|KLC4_ENST00000453940.2_Missense_Mutation_p.S534N|KLC4_ENST00000479388.1_Missense_Mutation_p.S611N|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Missense_Mutation_p.S611N|PTK7_ENST00000476760.1_5'Flank|KLC4_ENST00000394058.1_Missense_Mutation_p.S611N|PTK7_ENST00000471863.1_5'Flank|PTK7_ENST00000352931.2_5'Flank|PTK7_ENST00000349241.2_5'Flank|PTK7_ENST00000230419.4_5'Flank			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	611						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)			CTCAGTGCCAGCACCATGGAC	0.617																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(1831-1833)aGc>aAc		kinesin light chain 4							116.0	103.0	107.0					6																	43042382		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43042382G>A	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.1832G>A	6.37:g.43042382G>A	ENSP00000377620:p.Ser611Asn					KLC4_ENST00000347162.5_Missense_Mutation_p.S611N|KLC4_ENST00000479388.1_Missense_Mutation_p.S611N|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000259708.3_Missense_Mutation_p.S629N|KLC4_ENST00000453940.2_Missense_Mutation_p.S534N|KLC4_ENST00000394058.1_Missense_Mutation_p.S611N	p.S611N			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)		17	2327	+			611					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.1832G>A	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582681	0.46006	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.85861	-1.93;-2.04;-1.97;-1.93;-1.93;-1.93	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	D	0.89757	0.6807	M	0.68593	2.085	0.54753	D	0.999985	D;D;D	0.61080	0.967;0.989;0.967	P;D;P	0.72982	0.827;0.979;0.827	D	0.89761	0.3947	10	0.52906	T	0.07	-21.9621	16.1531	0.81636	0.0:0.0:1.0:0.0	.	534;629;611	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	N	611;534;629;611;611;611	ENSP00000340221:S611N;ENSP00000395806:S534N;ENSP00000259708:S629N;ENSP00000418031:S611N;ENSP00000377620:S611N;ENSP00000377622:S611N	ENSP00000259708:S629N	S	+	2	0	KLC4	43150360	1.000000	0.71417	0.998000	0.56505	0.322000	0.28314	7.834000	0.86773	2.549000	0.85964	0.462000	0.41574	AGC		0.617	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		3	84	0	0	0	1	0	3	84				
FOXR2	139628	broad.mit.edu	37	X	55650390	55650390	+	Silent	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:55650390G>A	ENST00000339140.3	+	1	558	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	82					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GGATGTGGGTGGACCCCAATA	0.552																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(244-246)gtG>gtA		forkhead box R2							68.0	62.0	64.0					X																	55650390		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650390G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.246G>A	X.37:g.55650390G>A							p.V82V	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	558	+			82						Silent	SNP	ENST00000339140.3	37	c.246G>A	CCDS35308.1																																																																																				0.552	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		3	58	0	0	0	1	0	3	58				
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.R333H(1)	large_intestine(1)								c.(997-999)cGt>cAt		zinc finger protein 91							72.0	76.0	75.0					19																	23544783		2120	4254	6374	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544783C>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H	p.R333H	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1203	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	333	R -> H (in Ref. 1; AAA59469).				A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.998G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	66	0	0	0	1	0	4	66				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	95	0	0	0	1	0	4	95				
TAF5	6877	broad.mit.edu	37	10	105145230	105145230	+	Silent	SNP	C	C	T	rs145434074		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr10:105145230C>T	ENST00000369839.3	+	8	1835	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	604					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTCAGGGGGCCATGACCGAG	0.413																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1810-1812)ggC>ggT		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa		C		1,4405	2.1+/-5.4	0,1,2202	72.0	63.0	66.0		1812	0.9	1.0	10	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	TAF5	NM_006951.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		604/801	105145230	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105145230C>T	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1812C>T	10.37:g.105145230C>T						TAF5_ENST00000351396.4_Intron	p.G604G	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	8	1835	+		Colorectal(252;0.0747)|Breast(234;0.128)	604					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	c.1812C>T	CCDS7547.1																																																																																				0.413	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			3	36	0	0	0	1	0	3	36				
MTL5	9633	broad.mit.edu	37	11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:68517872delC	ENST00000255087.5	-	2	440	c.257delG	c.(256-258)ggcfs	p.G86fs	MTL5_ENST00000443940.2_Frame_Shift_Del_p.G86fs|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	86					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(256-258)gcfs		metallothionein-like 5, testis-specific (tesmin)							8.0	8.0	8.0					11																	68517872		2153	4189	6342	SO:0001589	frameshift_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517872delC	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.257delG	11.37:g.68517872delC	ENSP00000255087:p.Gly86fs					MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs|MTL5_ENST00000255087.5_Frame_Shift_Del_p.G86fs	p.G86fs			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	343	-	Esophageal squamous(3;4.37e-12)		86					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Frame_Shift_Del	DEL	ENST00000255087.5	37	c.257delG	CCDS8184.1																																																																																				0.751	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		2	4						2	4	---	---	---	---
RELT	84957	broad.mit.edu	37	11	73101914	73101914	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:73101914G>A	ENST00000064780.2	+	4	496	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	RELT_ENST00000393580.2_Missense_Mutation_p.A79T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	79						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GAGGCTGGAGGCCCAGGTGGG	0.652																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(235-237)Gcc>Acc		RELT tumor necrosis factor receptor							46.0	49.0	48.0					11																	73101914		2200	4293	6493	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73101914G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.235G>A	11.37:g.73101914G>A	ENSP00000064780:p.Ala79Thr					RELT_ENST00000393580.2_Missense_Mutation_p.A79T	p.A79T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			4	496	+			79					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.235G>A	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898268	0.52227	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	T;T;T	0.81078	-0.97;-1.45;-0.97	5.31	5.31	0.75309	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.616410	0.16811	N	0.198544	T	0.79191	0.4404	M	0.64997	1.995	0.30841	N	0.735632	B	0.16802	0.019	B	0.18871	0.023	T	0.76375	-0.2982	10	0.48119	T	0.1	-4.7681	14.8893	0.70594	0.0:0.0:1.0:0.0	.	79	Q969Z4	TR19L_HUMAN	T	79	ENSP00000064780:A79T;ENSP00000439352:A79T;ENSP00000377207:A79T	ENSP00000064780:A79T	A	+	1	0	RELT	72779562	0.252000	0.23972	0.999000	0.59377	0.588000	0.36517	1.322000	0.33689	2.652000	0.90054	0.638000	0.83543	GCC		0.652	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		3	74	0	0	0	1	0	3	74				
B4GALNT1	2583	broad.mit.edu	37	12	58025769	58025769	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr12:58025769delG	ENST00000341156.4	-	2	731	c.147delC	c.(145-147)cccfs	p.P49fs	B4GALNT1_ENST00000449184.3_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000418555.2_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000550764.1_Frame_Shift_Del_p.P49fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	49					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGCAGCTCGGGCCTGCGGG	0.726																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(145-147)ccfs		beta-1,4-N-acetyl-galactosaminyl transferase 1							7.0	7.0	7.0					12																	58025769		2177	4231	6408	SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025769delG	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.147delC	12.37:g.58025769delG	ENSP00000341562:p.Pro49fs					B4GALNT1_ENST00000550764.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000418555.2_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Del_p.P49fs	p.P49fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		2	731	-	Melanoma(17;0.122)		49					B4DE26|Q8N636	Frame_Shift_Del	DEL	ENST00000341156.4	37	c.147delC	CCDS8950.1																																																																																				0.726	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		2	4						2	4	---	---	---	---
FBXL16	146330	broad.mit.edu	37	16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr16:747263_747265delTGG	ENST00000397621.1	-	2	472_474	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000324361.5_In_Frame_Del_p.47_48CQ>W|FBXL16_ENST00000562563.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729																																						ENST00000397621.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(139-144)tgg>tg		F-box and leucine-rich repeat protein 16																																				SO:0001651	inframe_deletion	146330							g.chr16:747263_747265delTGG	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.141_143delCCA	16.37:g.747263_747265delTGG	ENSP00000380746:p.Cys47_Gln48delinsTrp					FBXL16_ENST00000324361.5_In_Frame_Del_p.CQ47del	p.CQ47del	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN			2	472_474	-		Hepatocellular(780;0.0218)	47			Pro-rich.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	In_Frame_Del	DEL	ENST00000397621.1	37	c.141_143delCCA	CCDS10421.1																																																																																				0.729	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		2	4						2	4	---	---	---	---
HAUS8	93323	broad.mit.edu	37	19	17160706	17160707	+	Frame_Shift_Del	DEL	GA	GA	-	rs532006952		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr19:17160706_17160707delGA	ENST00000253669.5	-	11	1399_1400	c.1209_1210delTC	c.(1207-1212)tctcgtfs	p.R404fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.R343fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.R403fs|CTD-2528A14.3_ENST00000598893.1_RNA			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	404					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CTCCCTGAACGAGAGAGAGAGG	0.495																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(1024-1029)tcgtfs		HAUS augmin-like complex, subunit 8																																				SO:0001589	frameshift_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17160706_17160707delGA	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.1209_1210delTC	19.37:g.17160714_17160715delGA	ENSP00000253669:p.Arg404fs					HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs	p.SR342fs			Q9BT25	HAUS8_HUMAN			10	3044_3045	-			403					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	ENST00000253669.5	37	c.1026_1027delTC	CCDS32948.1																																																																																				0.495	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		11	345						11	345	---	---	---	---
