#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
MUC5B	727897	broad.mit.edu	37	11	1264675	1264675	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:1264675C>A	ENST00000529681.1	+	31	6623	c.6565C>A	c.(6565-6567)Cca>Aca	p.P2189T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2192T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2189	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				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)		CCACACACCCCCAGTGCCGAA	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6574-6576)Cca>Aca		mucin 5B, oligomeric mucus/gel-forming							31.0	59.0	50.0					11																	1264675		1915	4022	5937	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264675C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6565C>A	11.37:g.1264675C>A	ENSP00000436812:p.Pro2189Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.P2189T|RP11-532E4.2_ENST00000532061.2_RNA	p.P2192T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6632	+		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)	2189			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6574C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	2.271	-0.367084	0.05069	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18338	2.22;2.4	1.95	-3.89	0.04193	.	.	.	.	.	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.31223	-0.9951	9	0.87932	D	0	.	0.9397	0.01352	0.4259:0.2555:0.1646:0.154	.	2827;2192	A7Y9J9;E9PBJ0	.;.	T	2189;2192;2190;2204	ENSP00000436812:P2189T;ENSP00000415793:P2192T	ENSP00000343037:P2190T	P	+	1	0	MUC5B	1221251	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-10.838000	0.00005	-1.597000	0.01609	0.195000	0.17529	CCA		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		16	7	1	0	3.51602e-12	0.575678	3.98199e-12	16	7				
HFM1	164045	broad.mit.edu	37	1	91818698	91818698	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:91818698C>G	ENST00000370425.3	-	15	1839	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'Flank	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	581	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGCACCATCTTTTAAGATA	0.313																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1741-1743)Gat>Cat		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							87.0	80.0	82.0					1																	91818698		1809	4074	5883	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818698C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1741G>C	1.37:g.91818698C>G	ENSP00000359454:p.Asp581His					HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	p.D581H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	15	1839	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	581			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1741G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	1.954	-0.440583	0.04636	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.70749	-0.51;0.91	5.93	-4.91	0.03085	Helicase, C-terminal (2);	2.179560	0.04743	N	0.423110	T	0.18215	0.0437	N	0.01424	-0.875	0.29570	N	0.850002	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.01711	-1.1290	10	0.16896	T	0.51	.	11.8675	0.52501	0.7716:0.1218:0.1066:0.0	.	260;581	A6NGI5;A2PYH4	.;HFM1_HUMAN	H	581;260;265;614	ENSP00000359454:D581H;ENSP00000359453:D260H	ENSP00000359450:D265H	D	-	1	0	HFM1	91591286	0.007000	0.16637	0.531000	0.27976	0.281000	0.26958	0.175000	0.16762	-0.682000	0.05197	-0.211000	0.12701	GAT		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		22	71	0	0	0	0.654019	0	22	71				
HTR2C	3358	broad.mit.edu	37	X	113965913	113965913	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:113965913G>A	ENST00000276198.1	+	4	974	c.246G>A	c.(244-246)aaG>aaA	p.K82K	HTR2C_ENST00000371951.1_Silent_p.K82K|HTR2C_ENST00000371950.3_Silent_p.K82K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	82					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCATGGAAAAGAAACTGCACA	0.448																																						ENST00000276198.1																			1	Substitution - Missense(1)	p.K82N(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(244-246)aaG>aaA		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						227.0	172.0	190.0					X																	113965913		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965913G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.246G>A	X.37:g.113965913G>A						HTR2C_ENST00000371950.3_Silent_p.K82K|HTR2C_ENST00000371951.1_Silent_p.K82K	p.K82K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	974	+			82					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.246G>A	CCDS14564.1																																																																																				0.448	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		36	68	0	0	0	0.788014	0	36	68				
COG6	57511	broad.mit.edu	37	13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr13:40239254G>A	ENST00000455146.3	+	4	441	c.391G>A	c.(391-393)Gat>Aat	p.D131N	COG6_ENST00000416691.1_Missense_Mutation_p.D131N|MIR4305_ENST00000583252.1_RNA	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	131					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACAGACTCAAGATTTAATAGT	0.274																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(391-393)Gat>Aat		component of oligomeric golgi complex 6							53.0	57.0	56.0					13																	40239254		2201	4293	6494	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40239254G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.391G>A	13.37:g.40239254G>A	ENSP00000397441:p.Asp131Asn					COG6_ENST00000455146.3_Missense_Mutation_p.D131N	p.D131N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	4	491	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	131					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.391G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654631	0.67472	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.56103	0.48;0.48;0.48	5.72	4.88	0.63580	.	0.088146	0.85682	D	0.000000	T	0.58892	0.2154	L	0.55103	1.725	0.80722	D	1	D;B	0.57257	0.979;0.339	P;B	0.55508	0.777;0.147	T	0.54977	-0.8212	10	0.19147	T	0.46	-10.1424	13.3081	0.60363	0.0764:0.0:0.9236:0.0	.	152;131	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	N	131;162;131;131	ENSP00000403733:D131N;ENSP00000412877:D131N;ENSP00000397441:D131N	ENSP00000255468:D162N	D	+	1	0	COG6	39137254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.945000	0.92985	1.434000	0.47414	0.591000	0.81541	GAT		0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			42	44	0	0	0	0.870114	0	42	44				
HPS6	79803	broad.mit.edu	37	10	103826538	103826538	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:103826538A>C	ENST00000299238.5	+	1	1392	c.1307A>C	c.(1306-1308)cAg>cCg	p.Q436P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	436					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CGGGCACCTCAGGCTCTGGCC	0.622									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1306-1308)cAg>cCg		Hermansky-Pudlak syndrome 6							49.0	53.0	52.0					10																	103826538		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826538A>C	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1307A>C	10.37:g.103826538A>C	ENSP00000299238:p.Gln436Pro						p.Q436P	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1392	+		Colorectal(252;0.122)	436					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1307A>C	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599392	0.46318	.	.	ENSG00000166189	ENST00000299238	T	0.77489	-1.1	5.27	4.08	0.47627	.	0.309345	0.31859	N	0.006942	T	0.69396	0.3106	L	0.51422	1.61	0.33902	D	0.638637	D	0.53745	0.962	B	0.42030	0.373	T	0.78526	-0.2170	10	0.49607	T	0.09	-14.828	8.3326	0.32195	0.6525:0.0:0.0:0.3475	.	436	Q86YV9	HPS6_HUMAN	P	436	ENSP00000299238:Q436P	ENSP00000299238:Q436P	Q	+	2	0	HPS6	103816528	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	4.206000	0.58473	2.216000	0.71823	0.459000	0.35465	CAG		0.622	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		24	125	0	0	0	0.639603	0	24	125				
ROS1	6098	broad.mit.edu	37	6	117630054	117630054	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:117630054C>T	ENST00000368508.3	-	41	6670	c.6472G>A	c.(6472-6474)Ggt>Agt	p.G2158S	ROS1_ENST00000368507.3_Missense_Mutation_p.G2152S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCTGATGACCAAGAGTTAAA	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(6472-6474)Ggt>Agt		c-ros oncogene 1 , receptor tyrosine kinase							86.0	82.0	83.0					6																	117630054		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117630054C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6472G>A	6.37:g.117630054C>T	ENSP00000357494:p.Gly2158Ser					ROS1_ENST00000368507.3_Missense_Mutation_p.G2152S	p.G2158S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	41	6670	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2158			Protein kinase.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6472G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764600	0.89932	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.92752	-3.1;-3.1	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000010	D	0.96288	0.8789	M	0.87456	2.885	0.49213	D	0.999768	D	0.89917	1.0	D	0.97110	1.0	D	0.96713	0.9527	10	0.72032	D	0.01	.	17.7464	0.88422	0.0:1.0:0.0:0.0	.	2158	P08922	ROS1_HUMAN	S	2158;2152	ENSP00000357494:G2158S;ENSP00000357493:G2152S	ENSP00000357493:G2152S	G	-	1	0	ROS1	117736747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.800000	0.69108	2.492000	0.84095	0.650000	0.86243	GGT		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			16	88	0	0	0	0.520397	0	16	88				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	16	0	0	0	0.184627	0	4	16				
KRTAP5-7	440050	broad.mit.edu	37	11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(268-270)tGt>tAt		keratin associated protein 5-7							74.0	97.0	89.0					11																	71238615		2199	4294	6493	SO:0001583	missense	440050					keratin filament		g.chr11:71238615G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.269G>A	11.37:g.71238615G>A	ENSP00000417330:p.Cys90Tyr						p.C90Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	303	+			90			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.269G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	5.324	0.245132	0.10077	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.56	-0.879	0.10613	.	.	.	.	.	T	0.02342	0.0072	M	0.83223	2.63	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40553	-0.9557	9	0.54805	T	0.06	.	2.6036	0.04872	0.3779:0.2657:0.3565:0.0	.	90	Q6L8G8	KRA57_HUMAN	Y	90	ENSP00000417330:C90Y	ENSP00000417330:C90Y	C	+	2	0	KRTAP5-7	70916263	1.000000	0.71417	0.000000	0.03702	0.026000	0.11368	3.535000	0.53575	-0.206000	0.10203	0.162000	0.16502	TGT		0.647	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			6	459	0	0	0	0.335167	0	6	459				
SDHC	6391	broad.mit.edu	37	1	161326467	161326467	+	Splice_Site	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:161326467G>A	ENST00000367975.2	+	5	391	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000432287.2_Splice_Site_p.G47E	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	81					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTCTCCTCAGGGGTCTCTCTT	0.468			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													ENST00000367975.2			yes	Rec		Familial paraganglioma	1	1q21	6391	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""			O		"""paraganglioma, pheochromocytoma"""			0				urinary_tract(1)	1						c.e5-1		succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	Succinic acid(DB00139)						115.0	117.0	116.0					1																	161326467		2203	4300	6503	SO:0001630	splice_region_variant	6391	Familial Paragangliomas;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161326467G>A	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.242-1G>A	1.37:g.161326467G>A						SDHC_ENST00000392169.2_Splice_Site_p.G28_splice|SDHC_ENST00000470743.2_Splice_Site|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000432287.2_Splice_Site_p.G47_splice	p.G81_splice	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	391	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		81					O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Splice_Site	SNP	ENST00000367975.2	37	c.241_splice	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	g	17.03	3.283820	0.59867	.	.	ENSG00000143252	ENST00000367975;ENST00000432287;ENST00000392169	D;D;D	0.97553	-4.43;-4.43;-4.43	5.24	3.33	0.38152	.	0.168642	0.49916	N	0.000122	D	0.98476	0.9492	H	0.96633	3.855	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.981;0.991;0.989	D	0.98720	1.0708	8	.	.	.	.	8.1583	0.31183	0.0837:0.0:0.7587:0.1576	.	28;47;81	Q99643-5;Q99643-3;Q99643	.;.;C560_HUMAN	E	81;47;28	ENSP00000356953:G81E;ENSP00000390558:G47E;ENSP00000376009:G28E	.	G	+	2	0	SDHC	159593091	1.000000	0.71417	0.590000	0.28732	0.977000	0.68977	5.050000	0.64251	0.672000	0.31204	0.639000	0.83563	GGG		0.468	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001	Missense_Mutation	59	139	0	0	0	0.870114	0	59	139				
SUSD4	55061	broad.mit.edu	37	1	223396921	223396921	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:223396921C>T	ENST00000343846.3	-	7	1747	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M|SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	372						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGACGGGCACGCCGTCTACC	0.617																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(1114-1116)Gtg>Atg		sushi domain containing 4							28.0	34.0	32.0					1																	223396921		2191	4279	6470	SO:0001583	missense	55061					integral to membrane		g.chr1:223396921C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1114G>A	1.37:g.223396921C>T	ENSP00000344219:p.Val372Met					SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron	p.V372M			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	7	1747	-			372					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.1114G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889978	0.91889	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.39997	1.05;1.05;1.14	5.16	5.16	0.70880	.	0.311014	0.23129	N	0.051613	T	0.65196	0.2668	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68375	-0.5425	10	0.87932	D	0	-19.3898	18.6628	0.91477	0.0:1.0:0.0:0.0	.	372	Q5VX71	SUSD4_HUMAN	M	372;372;303;212	ENSP00000344219:V372M;ENSP00000355843:V372M;ENSP00000399288:V212M	ENSP00000344219:V372M	V	-	1	0	SUSD4	221463544	0.997000	0.39634	0.984000	0.44739	0.972000	0.66771	3.661000	0.54503	2.405000	0.81733	0.655000	0.94253	GTG		0.617	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		12	29	0	0	0	0.411799	0	12	29				
RYR2	6262	broad.mit.edu	37	1	237947932	237947932	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:237947932G>A	ENST00000366574.2	+	90	13237	c.12920G>A	c.(12919-12921)cGc>cAc	p.R4307H	RYR2_ENST00000542537.1_Missense_Mutation_p.R4291H|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4313H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4307					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4305L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTTTTCCGCATCATTTGC	0.502																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.R4305L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12919-12921)cGc>cAc		ryanodine receptor 2 (cardiac)							78.0	76.0	77.0					1																	237947932		1918	4126	6044	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947932G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12920G>A	1.37:g.237947932G>A	ENSP00000355533:p.Arg4307His					RYR2_ENST00000360064.6_Missense_Mutation_p.R4313H|RYR2_ENST00000542537.1_Missense_Mutation_p.R4291H	p.R4307H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13237	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4307					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12920G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	2.223	-0.377914	0.05000	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96554	-0.29;-4.05;-0.29	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	D	0.91064	0.7188	L	0.38175	1.15	0.22851	N	0.99865	B;B	0.27316	0.022;0.175	B;B	0.12156	0.006;0.007	T	0.78788	-0.2067	10	0.16420	T	0.52	-11.0906	8.1681	0.31239	0.0786:0.0:0.7635:0.1579	.	1281;4307	B4DGV4;Q92736	.;RYR2_HUMAN	H	4307;4313;4291;1281	ENSP00000355533:R4307H;ENSP00000353174:R4313H;ENSP00000443798:R4291H	ENSP00000353174:R4313H	R	+	2	0	RYR2	236014555	1.000000	0.71417	0.643000	0.29450	0.474000	0.32979	3.788000	0.55446	2.657000	0.90304	0.655000	0.94253	CGC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	71	0	0	0	0.870114	0	48	71				
CNOT6L	246175	broad.mit.edu	37	4	78641727	78641727	+	Missense_Mutation	SNP	G	G	A	rs377549782		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:78641727G>A	ENST00000504123.1	-	12	1656	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	509	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAGCCATTGAGGATCTAAAGG	0.468																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1525-1527)cCt>cTt		CCR4-NOT transcription complex, subunit 6-like							133.0	128.0	130.0					4																	78641727		1907	4123	6030	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78641727G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1526C>T	4.37:g.78641727G>A	ENSP00000424896:p.Pro509Leu					CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L	p.P509L			Q96LI5	CNO6L_HUMAN			12	1656	-			509					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1526C>T		.	.	.	.	.	.	.	.	.	.	G	12.97	2.098156	0.37048	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	T;T;T	0.80393	-1.37;-1.37;-1.37	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (2);	0.302135	0.30320	U	0.009895	T	0.78253	0.4254	L	0.45352	1.415	0.80722	D	1	B	0.22604	0.072	B	0.26310	0.068	T	0.71137	-0.4680	10	0.37606	T	0.19	-2.9554	20.3921	0.98947	0.0:0.0:1.0:0.0	.	509	Q96LI5	CNO6L_HUMAN	L	509;509;516	ENSP00000424896:P509L;ENSP00000264903:P509L;ENSP00000425571:P516L	ENSP00000264903:P509L	P	-	2	0	CNOT6L	78860751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.822000	0.97130	0.650000	0.86243	CCT		0.468	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			107	168	0	0	0	0.870114	0	107	168				
ARNT	405	broad.mit.edu	37	1	150789283	150789283	+	Missense_Mutation	SNP	G	G	A	rs587670365		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:150789283G>A	ENST00000358595.5	-	18	1983	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	ARNT_ENST00000505755.1_Missense_Mutation_p.R580W|ARNT_ENST00000515192.1_Missense_Mutation_p.R581W|ARNT_ENST00000354396.2_Missense_Mutation_p.R595W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	595					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCCGGCCGGGGGGTAGGA	0.527			T	ETV6	AML								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17516	0.0		0.0	False		,,,				2504	0.0					ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1783-1785)Cgg>Tgg		aryl hydrocarbon receptor nuclear translocator							83.0	83.0	83.0					1																	150789283		2203	4300	6503	SO:0001583	missense	0				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150789283G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1783C>T	1.37:g.150789283G>A	ENSP00000351407:p.Arg595Trp					ARNT_ENST00000354396.2_Missense_Mutation_p.R595W|ARNT_ENST00000515192.1_Missense_Mutation_p.R581W|ARNT_ENST00000505755.1_Missense_Mutation_p.R580W	p.R595W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		18	1983	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		595					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1783C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467136	0.63625	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.66	3.59	0.41128	.	0.552842	0.17871	N	0.159184	T	0.54367	0.1854	M	0.66939	2.045	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.978;0.978;0.978;0.999	T	0.60367	-0.7277	10	0.54805	T	0.06	.	16.2553	0.82515	0.0:0.0:0.7469:0.2531	.	580;595;581;580;595	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	W	595;595;581;547;580	ENSP00000351407:R595W;ENSP00000346372:R595W;ENSP00000423851:R581W;ENSP00000427571:R580W	ENSP00000346372:R595W	R	-	1	2	ARNT	149055907	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.978000	0.49305	1.400000	0.46741	0.655000	0.94253	CGG		0.527	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			52	95	0	0	0	0.870114	0	52	95				
EVL	51466	broad.mit.edu	37	14	100613165	100613165	+	IGR	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr14:100613165A>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000305631.5_Missense_Mutation_p.F302S|DEGS2_ENST00000553834.1_Silent_p.V54V|DEGS2_ENST00000557117.1_5'Flank			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGAGTCCTCAAACACAAAATC	0.632																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(904-906)tTt>tCt		delta(4)-desaturase, sphingolipid 2							130.0	121.0	124.0					14																	100613165		2203	4300	6503	SO:0001628	intergenic_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100613165A>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530		14.37:g.100613165A>G						DEGS2_ENST00000553834.1_Silent_p.V54V	p.F302S	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			3	1480	-		Melanoma(154;0.212)	302					A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.905T>C		.	.	.	.	.	.	.	.	.	.	A	18.26	3.585083	0.66105	.	.	ENSG00000168350	ENST00000305631	T	0.32515	1.45	4.86	3.69	0.42338	.	0.099712	0.64402	D	0.000001	T	0.59514	0.2199	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64279	-0.6445	10	0.66056	D	0.02	-21.6428	10.6255	0.45506	0.9228:0.0:0.0772:0.0	.	302	Q6QHC5	DEGS2_HUMAN	S	302	ENSP00000307126:F302S	ENSP00000307126:F302S	F	-	2	0	DEGS2	99682918	0.993000	0.37304	0.966000	0.40874	0.993000	0.82548	7.379000	0.79691	0.689000	0.31550	0.459000	0.35465	TTT		0.632	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			59	108	0	0	0	0.870114	0	59	108				
VCPIP1	80124	broad.mit.edu	37	8	67578649	67578649	+	Missense_Mutation	SNP	T	T	C	rs147256539		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:67578649T>C	ENST00000310421.4	-	1	803	c.545A>G	c.(544-546)aAg>aGg	p.K182R	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	182					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCGGTCCTTGCCATAGCC	0.547																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(544-546)aAg>aGg		valosin containing protein (p97)/p47 complex interacting protein 1		T	ARG/LYS	0,4406		0,0,2203	129.0	124.0	126.0		545	6.0	1.0	8	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	VCPIP1	NM_025054.4	26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	182/1223	67578649	1,13005	2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578649T>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.545A>G	8.37:g.67578649T>C	ENSP00000309031:p.Lys182Arg						p.K182R	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	803	-		Lung NSC(129;0.142)|all_lung(136;0.227)	182					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.545A>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	8.558	0.877171	0.17395	0.0	1.16E-4	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.96	5.96	0.96718	.	0.104266	0.64402	D	0.000003	T	0.20536	0.0494	N	0.05230	-0.09	0.43304	D	0.995302	B	0.12630	0.006	B	0.12837	0.008	T	0.11665	-1.0578	10	0.16420	T	0.52	-14.0137	16.4484	0.83959	0.0:0.0:0.0:1.0	.	182	Q96JH7	VCIP1_HUMAN	R	182	ENSP00000309031:K182R	ENSP00000309031:K182R	K	-	2	0	VCPIP1	67741203	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.828000	0.48120	2.285000	0.76669	0.533000	0.62120	AAG		0.547	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			91	132	0	0	0	0.870114	0	91	132				
FAF2	23197	broad.mit.edu	37	5	175933901	175933901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:175933901G>T	ENST00000261942.6	+	11	1341	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	430	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ACAGGAGGCCGGACTCAGCCA	0.512																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(1288-1290)Gga>Tga		Fas associated factor family member 2							105.0	109.0	108.0					5																	175933901		2203	4300	6503	SO:0001587	stop_gained	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175933901G>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.1288G>T	5.37:g.175933901G>T	ENSP00000261942:p.Gly430*						p.G430*	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			11	1341	+			430			UBX.		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Nonsense_Mutation	SNP	ENST00000261942.6	37	c.1288G>T	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436408	0.96168	.	.	ENSG00000113194	ENST00000261942	.	.	.	4.89	4.02	0.46733	.	0.103679	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.4864	13.3894	0.60813	0.0758:0.0:0.9242:0.0	.	.	.	.	X	430	.	ENSP00000261942:G430X	G	+	1	0	FAF2	175866507	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	9.222000	0.95196	1.277000	0.44412	0.561000	0.74099	GGA		0.512	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		4	183	1	0	0.00909568	0.150653	0.00960667	4	183				
IFNA16	3449	broad.mit.edu	37	9	21216869	21216869	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:21216869A>G	ENST00000380216.1	-	1	441	c.436T>C	c.(436-438)Tac>Cac	p.Y146H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	146					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTTTGAAAGTATTTCCTCACA	0.463																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(436-438)Tac>Cac		interferon, alpha 16							227.0	218.0	221.0					9																	21216869		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21216869A>G		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.436T>C	9.37:g.21216869A>G	ENSP00000369564:p.Tyr146His						p.Y146H	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	441	-			146					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.436T>C	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	12.47	1.947443	0.34377	.	.	ENSG00000147885	ENST00000380216	T	0.17054	2.3	2.62	-1.8	0.07907	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	H	0.97214	3.96	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37197	-0.9716	10	0.87932	D	0	.	3.437	0.07449	0.5415:0.2037:0.2548:0.0	.	146	P05015	IFN16_HUMAN	H	146	ENSP00000369564:Y146H	ENSP00000369564:Y146H	Y	-	1	0	IFNA16	21206869	0.520000	0.26250	0.004000	0.12327	0.081000	0.17604	0.916000	0.28651	-0.512000	0.06505	0.155000	0.16302	TAC		0.463	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		192	273	0	0	0	0.870114	0	192	273				
CHST6	4166	broad.mit.edu	37	16	75513511	75513511	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:75513511G>A	ENST00000332272.4	-	3	395	c.216C>T	c.(214-216)ccC>ccT	p.P72P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P72P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	72			P -> S (in MCDC1). {ECO:0000269|PubMed:11818380, ECO:0000269|PubMed:15013869}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGTGCCACGCGGGCTCCATTA	0.667																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(214-216)ccC>ccT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							42.0	35.0	37.0					16																	75513511		2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513511G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.216C>T	16.37:g.75513511G>A						RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P72P	p.P72P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	395	-			72		P -> S (in MCD).			D3DUK3	Silent	SNP	ENST00000332272.4	37	c.216C>T	CCDS10918.1																																																																																				0.667	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		22	19	0	0	0	0.639603	0	22	19				
HTRA4	203100	broad.mit.edu	37	8	38834065	38834065	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:38834065G>A	ENST00000302495.4	+	3	678	c.578G>A	c.(577-579)gGc>gAc	p.G193D		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	193					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTACTTCACGGCAGCAGGCTT	0.473																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(577-579)gGc>gAc		HtrA serine peptidase 4							109.0	102.0	105.0					8																	38834065		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38834065G>A	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.578G>A	8.37:g.38834065G>A	ENSP00000305919:p.Gly193Asp						p.G193D	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		3	678	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	193					Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.578G>A	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	G	8.610	0.888998	0.17540	.	.	ENSG00000169495	ENST00000302495	D	0.87179	-2.22	5.53	-0.812	0.10853	Peptidase cysteine/serine, trypsin-like (1);	0.719368	0.13455	N	0.386563	T	0.76321	0.3971	L	0.44542	1.39	0.09310	N	1	P	0.39022	0.655	B	0.29353	0.101	T	0.62784	-0.6781	10	0.40728	T	0.16	-11.1514	7.7402	0.28837	0.2166:0.486:0.2974:0.0	.	193	P83105	HTRA4_HUMAN	D	193	ENSP00000305919:G193D	ENSP00000305919:G193D	G	+	2	0	HTRA4	38953222	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.793000	0.26944	-0.491000	0.06697	0.555000	0.69702	GGC		0.473	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		29	24	0	0	0	0.740014	0	29	24				
MEGF8	1954	broad.mit.edu	37	19	42865114	42865114	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:42865114C>G	ENST00000251268.6	+	32	5676	c.5676C>G	c.(5674-5676)tgC>tgG	p.C1892W	MEGF8_ENST00000334370.4_Missense_Mutation_p.C1825W	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1892	PSI 4.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGGGCCTGCACCTGGTGCC	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5473-5475)tgC>tgG		multiple EGF-like-domains 8							36.0	40.0	39.0					19																	42865114		2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42865114C>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5676C>G	19.37:g.42865114C>G	ENSP00000251268:p.Cys1892Trp					MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W	p.C1825W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			31	6110	+		Prostate(69;0.00682)	1892					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5475C>G		.	.	.	.	.	.	.	.	.	.	C	18.34	3.603144	0.66445	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66099	-0.19;-0.19	5.54	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.61912	-0.6965	10	0.87932	D	0	-21.6471	8.0726	0.30697	0.0:0.7405:0.0:0.2595	.	1892;1825	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	W	1825;1892	ENSP00000334219:C1825W;ENSP00000251268:C1892W	ENSP00000251268:C1892W	C	+	3	2	MEGF8	47556954	0.417000	0.25432	0.998000	0.56505	0.981000	0.71138	0.477000	0.22196	0.681000	0.31386	0.655000	0.94253	TGC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		39	67	0	0	0	0.840704	0	39	67				
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(469-471)Gtc>Ttc	Other conserved DNA damage response genes	tumor protein p53							50.0	52.0	51.0					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	73	1	0	2.55665e-31	0.870114	3.08109e-31	46	73				
ZNF608	57507	broad.mit.edu	37	5	123984772	123984772	+	Silent	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:123984772C>A	ENST00000306315.5	-	4	1740	c.1305G>T	c.(1303-1305)ggG>ggT	p.G435G	ZNF608_ENST00000504926.1_Silent_p.G8G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	435							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCGCTCTCTTCCCTCTGCCCC	0.572																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1303-1305)ggG>ggT		zinc finger protein 608							29.0	32.0	31.0					5																	123984772		2202	4293	6495	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123984772C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1305G>T	5.37:g.123984772C>A						ZNF608_ENST00000504926.1_Silent_p.G8G	p.G435G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1740	-		all_cancers(142;0.186)|Prostate(80;0.081)	435					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.1305G>T	CCDS34219.1																																																																																				0.572	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		36	75	1	0	4.11147e-13	0.788014	4.71315e-13	36	75				
OR1C1	26188	broad.mit.edu	37	1	247921334	247921334	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:247921334C>T	ENST00000408896.2	-	1	648	c.375G>A	c.(373-375)gcG>gcA	p.A125A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTGGCAAATCGCCACATATC	0.507																																						ENST00000408896.2																			1	Substitution - coding silent(1)	p.A125A(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(373-375)gcG>gcA		olfactory receptor, family 1, subfamily C, member 1							73.0	69.0	70.0					1																	247921334		2015	4176	6191	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921334C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.375G>A	1.37:g.247921334C>T							p.A125A	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	648	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	125					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.375G>A	CCDS41481.1																																																																																				0.507	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			35	56	0	0	0	0.812448	0	35	56				
LOC440040	440040	broad.mit.edu	37	11	49831711	49831711	+	RNA	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:49831711A>G	ENST00000527477.1	+	0	1936																											GTTGATGTTAATCAAAGCTCC	0.448																																						ENST00000527477.1																			0																																																			0							g.chr11:49831711A>G																													11.37:g.49831711A>G														0	1936	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.448	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			5	234	0	0	0	0.307466	0	5	234				
ADAMTS15	170689	broad.mit.edu	37	11	130340830	130340830	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:130340830T>C	ENST00000299164.2	+	6	1736	c.1736T>C	c.(1735-1737)tTc>tCc	p.F579S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	579	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGAAAGAGCTTCCGGGAGGAG	0.612																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1735-1737)tTc>tCc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							108.0	116.0	113.0					11																	130340830		2201	4296	6497	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130340830T>C	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1736T>C	11.37:g.130340830T>C	ENSP00000299164:p.Phe579Ser						p.F579S	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	6	1736	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	579			Cys-rich.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1736T>C	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212643	0.79240	.	.	ENSG00000166106	ENST00000299164	T	0.06371	3.31	5.78	5.78	0.91487	.	.	.	.	.	T	0.32971	0.0847	M	0.93550	3.43	0.58432	D	0.999999	D	0.71674	0.998	P	0.62298	0.9	T	0.45527	-0.9255	9	0.87932	D	0	.	16.1081	0.81237	0.0:0.0:0.0:1.0	.	579	Q8TE58	ATS15_HUMAN	S	579	ENSP00000299164:F579S	ENSP00000299164:F579S	F	+	2	0	ADAMTS15	129846040	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.192000	0.50989	2.194000	0.70268	0.533000	0.62120	TTC		0.612	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		95	231	0	0	0	0.870114	0	95	231				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092234	29092234	+	RNA	SNP	C	C	A	rs150917533		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:29092234C>A	ENST00000569815.1	-	0	281					NR_047567.1				golgin A6 family-like 7, pseudogene																		GGCAGCCCCCCGAAGTGGTTG	0.542																																						ENST00000569815.1																			0																																																			0							g.chr15:29092234C>A	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092234C>A								NR_047567.1						0	281	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.542	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		3	32	1	0	7.48243e-07	0.335167	8.08446e-07	3	32				
FEM1A	55527	broad.mit.edu	37	19	4792977	4792977	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:4792977C>T	ENST00000269856.3	+	1	1250	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	371					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGATGAGATGCGCATGCAGGC	0.632																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1111-1113)Cgc>Tgc		fem-1 homolog a (C. elegans)							50.0	51.0	51.0					19																	4792977		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792977C>T	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1111C>T	19.37:g.4792977C>T	ENSP00000269856:p.Arg371Cys					AC005523.2_ENST00000601192.1_RNA	p.R371C	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1250	+		Hepatocellular(1079;0.137)	371					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1111C>T	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845545	0.51164	.	.	ENSG00000141965	ENST00000269856	T	0.71341	-0.56	4.88	3.75	0.43078	.	0.000000	0.64402	U	0.000002	D	0.86289	0.5897	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89366	0.3671	10	0.72032	D	0.01	-19.7374	14.0361	0.64646	0.2515:0.7485:0.0:0.0	.	371	Q9BSK4	FEM1A_HUMAN	C	371	ENSP00000269856:R371C	ENSP00000269856:R371C	R	+	1	0	FEM1A	4743977	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.732000	0.26072	2.249000	0.74217	0.491000	0.48974	CGC		0.632	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			61	61	0	0	0	0.870114	0	61	61				
ERMARD	55780	broad.mit.edu	37	6	170175420	170175420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:170175420G>T	ENST00000366773.3	+	14	1405	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*|ERMARD_ENST00000588451.1_Nonsense_Mutation_p.E322*|ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	458					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TTTCCCCGAAGAACTCACTCG	0.502																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(964-966)Gaa>Taa									76.0	67.0	70.0					6																	170175420		2203	4300	6503	SO:0001587	stop_gained	0					integral to membrane		g.chr6:170175420G>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1372G>T	6.37:g.170175420G>T	ENSP00000355735:p.Glu458*					C6orf70_ENST00000366773.3_Nonsense_Mutation_p.E458*|C6orf70_ENST00000392095.4_Nonsense_Mutation_p.E332*|C6orf70_ENST00000418781.3_Nonsense_Mutation_p.E458*|C6orf70_ENST00000366772.2_Nonsense_Mutation_p.E458*	p.E322*			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	13	1477	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	458					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Nonsense_Mutation	SNP	ENST00000366773.3	37	c.964G>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	36	5.881756	0.97062	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	.	.	.	4.9	4.9	0.64082	.	0.314611	0.26510	N	0.023979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.6408	0.62249	0.0:0.0:1.0:0.0	.	.	.	.	X	458;458;458;332;106	.	ENSP00000355733:E106X	E	+	1	0	C6orf70	169917345	0.222000	0.23652	0.006000	0.13384	0.011000	0.07611	4.253000	0.58791	2.252000	0.74401	0.461000	0.40582	GAA		0.502	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		16	34	1	0	1.50039e-11	0.608945	1.65926e-11	16	34				
GPR87	53836	broad.mit.edu	37	3	151012286	151012286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:151012286G>A	ENST00000260843.4	-	3	1212	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	250					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTTATGTTTTCGCTTT	0.438																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(748-750)Cat>Tat		G protein-coupled receptor 87							125.0	111.0	116.0					3																	151012286		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012286G>A	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.748C>T	3.37:g.151012286G>A	ENSP00000260843:p.His250Tyr					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.H250Y	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1212	-			250					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.748C>T	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	7.881	0.730243	0.15507	.	.	ENSG00000138271	ENST00000260843	T	0.36520	1.25	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.130715	0.52532	D	0.000063	T	0.46483	0.1395	N	0.25647	0.755	0.48395	D	0.99964	D	0.59357	0.985	P	0.60012	0.867	T	0.42916	-0.9423	10	0.59425	D	0.04	-10.9622	19.2508	0.93925	0.0:0.0:1.0:0.0	.	250	Q9BY21	GPR87_HUMAN	Y	250	ENSP00000260843:H250Y	ENSP00000260843:H250Y	H	-	1	0	GPR87	152494976	1.000000	0.71417	0.245000	0.24217	0.989000	0.77384	3.283000	0.51701	2.719000	0.93026	0.655000	0.94253	CAT		0.438	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			85	141	0	0	0	0.870114	0	85	141				
SLITRK2	84631	broad.mit.edu	37	X	144906346	144906346	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:144906346C>T	ENST00000370490.1	+	1	6658	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000413937.2_Silent_p.T801T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	801					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATAAAACCGTTTTATATG	0.468																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2401-2403)acC>acT		SLIT and NTRK-like family, member 2							108.0	105.0	106.0					X																	144906346		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144906346C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2403C>T	X.37:g.144906346C>T						SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000413937.2_Silent_p.T801T	p.T801T			Q9H156	SLIK2_HUMAN			1	6658	+	Acute lymphoblastic leukemia(192;6.56e-05)		801					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.2403C>T	CCDS14680.1																																																																																				0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		7	153	0	0	0	0.278610	0	7	153				
PIK3CG	5294	broad.mit.edu	37	7	106509435	106509435	+	Missense_Mutation	SNP	C	C	T	rs138344795	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr7:106509435C>T	ENST00000359195.3	+	2	1739	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R477C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R477C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	477	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCTGCGCCGTGGAGAATA	0.517													C|||	4	0.000798722	0.003	0.0	5008	,	,		20995	0.0		0.0	False		,,,				2504	0.0					ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1429-1431)Cgt>Tgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma		C	CYS/ARG	14,4392	21.2+/-45.6	0,14,2189	121.0	114.0	116.0		1429	6.0	1.0	7	dbSNP_134	116	0,8600		0,0,4300	yes	missense	PIK3CG	NM_002649.2	180	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	possibly-damaging	477/1103	106509435	14,12992	2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509435C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1429C>T	7.37:g.106509435C>T	ENSP00000352121:p.Arg477Cys					PIK3CG_ENST00000440650.2_Missense_Mutation_p.R477C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R477C	p.R477C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1739	+			477					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1429C>T	CCDS5739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.61	2.884183	0.51908	0.003177	0.0	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.76839	-1.05;-1.05;-1.05	6.02	6.02	0.97574	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.298166	0.42294	D	0.000740	T	0.74876	0.3774	N	0.22421	0.69	0.41912	D	0.990474	P	0.38300	0.626	P	0.49140	0.601	T	0.71656	-0.4527	10	0.28530	T	0.3	-16.6567	15.1526	0.72713	0.1738:0.8262:0.0:0.0	.	477	P48736	PK3CG_HUMAN	C	477	ENSP00000392258:R477C;ENSP00000419260:R477C;ENSP00000352121:R477C	ENSP00000352121:R477C	R	+	1	0	PIK3CG	106296671	0.991000	0.36638	0.980000	0.43619	0.988000	0.76386	5.051000	0.64257	2.865000	0.98341	0.655000	0.94253	CGT		0.517	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			69	110	0	0	0	0.870114	0	69	110				
CYP2F1	1572	broad.mit.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562																																						ENST00000331105.2																			1	Substitution - Nonsense(1)	p.R120*(1)	large_intestine(1)	central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(358-360)Cga>Tga		cytochrome P450, family 2, subfamily F, polypeptide 1							97.0	92.0	94.0					19																	41626275		2203	4300	6503	SO:0001587	stop_gained	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41626275C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.358C>T	19.37:g.41626275C>T	ENSP00000333534:p.Arg120*						p.R120*	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			4	430	+			120					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Nonsense_Mutation	SNP	ENST00000331105.2	37	c.358C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158827	0.38119	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.25	0.388	0.16264	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2291	0.03992	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0.000000	0.05858	0.189000	0.23252	0.189000	0.23516	-0.842000	0.04354	0.413000	0.25759	-0.335000	0.08231	CGA		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			63	111	0	0	0	0.870114	0	63	111				
PCDHB3	56132	broad.mit.edu	37	5	140482022	140482022	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:140482022G>T	ENST00000231130.2	+	1	1789	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGACTCGGGCCAGAACGC	0.721																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1789-1791)Ggc>Tgc									10.0	13.0	12.0					5																	140482022		1584	3298	4882	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482022G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1789G>T	5.37:g.140482022G>T	ENSP00000231130:p.Gly597Cys						p.G597C	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1789	+			597			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1789G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198798	0.79015	.	.	ENSG00000113205	ENST00000231130	T	0.28666	1.6	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74574	0.3734	H	0.99764	4.76	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	D	0.87707	0.2564	9	0.87932	D	0	.	16.3117	0.82873	0.0:0.0:1.0:0.0	.	597	Q9Y5E6	PCDB3_HUMAN	C	597	ENSP00000231130:G597C	ENSP00000231130:G597C	G	+	1	0	PCDHB3	140462206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.071000	0.93980	1.993000	0.58246	0.556000	0.70494	GGC		0.721	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		34	131	1	0	1.61572e-30	0.853193	1.92251e-30	34	131				
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020716	33020716	+	RNA	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:33020716C>G	ENST00000565407.2	+	0	124				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		ACTGTCCTGTCCAGCCTCTGG	0.582																																						ENST00000565407.2																			0																				155.0	134.0	141.0					16																	33020716		1892	4114	6006			0							g.chr16:33020716C>G	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020716C>G						RP11-19N8.2_ENST00000567619.1_RNA								0	124	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.582	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			10	413	0	0	0	0.500413	0	10	413				
SUSD1	64420	broad.mit.edu	37	9	114840902	114840902	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:114840902G>A	ENST00000374270.3	-	12	1841	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	SUSD1_ENST00000374264.2_Missense_Mutation_p.R557C|SUSD1_ENST00000374263.3_Missense_Mutation_p.R557C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	557						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTACCCGGACGTAGGTCCAAG	0.498																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1669-1671)Cgt>Tgt		sushi domain containing 1							150.0	144.0	146.0					9																	114840902		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114840902G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1669C>T	9.37:g.114840902G>A	ENSP00000363388:p.Arg557Cys					SUSD1_ENST00000374264.2_Missense_Mutation_p.R557C|SUSD1_ENST00000374263.3_Missense_Mutation_p.R557C	p.R557C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			12	1841	-			557					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1669C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.307|3.307	-0.141695|-0.141695	0.06669|0.06669	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	4.96|4.96	0.765|0.765	0.18470|0.18470	.|.	2.196340|.	0.01674|.	N|.	0.025758|.	T|T	0.13670|0.13670	0.0331|0.0331	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.004;0.003|.	B;B;B|.	0.06405|.	0.002;0.001;0.0|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.38643|.	T|.	0.18|.	0.8854|0.8854	4.6038|4.6038	0.12366|0.12366	0.1775:0.0:0.5:0.3226|0.1775:0.0:0.5:0.3226	.|.	557;557;557|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|M	557|540	ENSP00000363388:R557C;ENSP00000363381:R557C;ENSP00000363382:R557C|.	ENSP00000363381:R557C|.	R|T	-|-	1|2	0|0	SUSD1|SUSD1	113880723|113880723	0.045000|0.045000	0.20229|0.20229	0.064000|0.064000	0.19789|0.19789	0.036000|0.036000	0.12997|0.12997	0.642000|0.642000	0.24735|0.24735	0.180000|0.180000	0.19960|0.19960	0.645000|0.645000	0.84053|0.84053	CGT|ACG		0.498	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		51	143	0	0	0	0.870114	0	51	143				
CD248	57124	broad.mit.edu	37	11	66084381	66084381	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:66084381G>A	ENST00000311330.3	-	1	134	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	40	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GTGCGGCGCCGTGGGAAGAGA	0.766																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(118-120)Cgg>Tgg		CD248 molecule, endosialin	Cefalotin(DB00456)						4.0	5.0	5.0					11																	66084381		1580	3251	4831	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66084381G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.118C>T	11.37:g.66084381G>A	ENSP00000308117:p.Arg40Trp					RP11-867G23.13_ENST00000534065.1_RNA	p.R40W	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	134	-			40			C-type lectin.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.118C>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	g	12.40	1.927072	0.34002	.	.	ENSG00000174807	ENST00000311330	T	0.55234	0.53	3.63	0.234	0.15390	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.481828	0.20015	N	0.101036	T	0.39627	0.1085	L	0.27053	0.805	0.28346	N	0.921136	D	0.60575	0.988	P	0.47206	0.541	T	0.37430	-0.9706	10	0.72032	D	0.01	-4.785	7.2253	0.26012	0.0:0.1624:0.5044:0.3332	.	40	Q9HCU0	CD248_HUMAN	W	40	ENSP00000308117:R40W	ENSP00000308117:R40W	R	-	1	2	CD248	65840957	0.775000	0.28604	0.144000	0.22314	0.052000	0.14988	2.813000	0.48002	0.203000	0.20529	-0.275000	0.10095	CGG		0.766	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		16	23	0	0	0	0.608945	0	16	23				
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	3'UTR	SNP	C	C	T	rs200186747		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845990C>T																												ENST00000412938.1:c.*3345C>T	22.37:g.18845990C>T														0	3348	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.582	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	50	0	0	0	0.248553	0	4	50				
HSPA1L	3305	broad.mit.edu	37	6	31778497	31778497	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:31778497C>T	ENST00000375654.4	-	2	1442	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R418H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	418					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGGAGTTGCGCTTTATCAG	0.602																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1252-1254)cGc>cAc		heat shock 70kDa protein 1-like							100.0	95.0	97.0					6																	31778497		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31778497C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1253G>A	6.37:g.31778497C>T	ENSP00000364805:p.Arg418His					HSPA1L_ENST00000417199.3_Missense_Mutation_p.R418H	p.R418H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1442	-			418					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1253G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270208	0.40194	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.05925	3.37;3.37	5.2	4.34	0.51931	.	0.000000	0.35291	N	0.003311	T	0.33000	0.0848	H	0.99746	4.745	0.58432	D	0.999998	D	0.65815	0.995	D	0.66716	0.946	T	0.59440	-0.7454	10	0.87932	D	0	-8.8479	11.5243	0.50571	0.0:0.9137:0.0:0.0863	.	418	P34931	HS71L_HUMAN	H	418;418;363	ENSP00000364805:R418H;ENSP00000387691:R418H	ENSP00000364804:R363H	R	-	2	0	HSPA1L	31886476	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.899000	0.69846	1.432000	0.47375	-0.237000	0.12165	CGC		0.602	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			37	154	0	0	0	0.827153	0	37	154				
GBF1	8729	broad.mit.edu	37	10	104120022	104120022	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:104120022G>A	ENST00000369983.3	+	12	1519	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	420					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCACACGACCGCCATAACTCA	0.582																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1258-1260)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							270.0	266.0	267.0					10																	104120022		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104120022G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1259G>A	10.37:g.104120022G>A	ENSP00000359000:p.Arg420His					GBF1_ENST00000476019.1_Intron	p.R420H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	12	1519	+		Colorectal(252;0.0236)	420					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1259G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612547	0.96637	.	.	ENSG00000107862	ENST00000369983	T	0.42513	0.97	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.991;0.999	T	0.57723	-0.7762	10	0.35671	T	0.21	-12.3815	19.4065	0.94649	0.0:0.0:1.0:0.0	.	420;420;420	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	420	ENSP00000359000:R420H	ENSP00000359000:R420H	R	+	2	0	GBF1	104110012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.826000	0.99387	2.580000	0.87095	0.650000	0.86243	CGC		0.582	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			5	291	0	0	0	0.217242	0	5	291				
PLCB4	5332	broad.mit.edu	37	20	9360791	9360791	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr20:9360791G>A	ENST00000378493.1	+	10	850	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378501.2_Missense_Mutation_p.E279K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	279					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAACCTGATGAAGATTTGAA	0.299																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(835-837)Gaa>Aaa		phospholipase C, beta 4							53.0	51.0	52.0					20																	9360791		2203	4296	6499	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9360791G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.835G>A	20.37:g.9360791G>A	ENSP00000367754:p.Glu279Lys					PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K	p.E279K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			10	850	+			279					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.835G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170542	0.57584	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.41	5.41	0.78517	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.154045	0.56097	D	0.000030	T	0.39358	0.1075	N	0.25144	0.715	0.80722	D	1	B;B;P;B	0.37061	0.4;0.01;0.58;0.001	B;B;B;B	0.40256	0.243;0.022;0.324;0.01	T	0.10359	-1.0633	10	0.15066	T	0.55	.	19.552	0.95324	0.0:0.0:1.0:0.0	.	279;126;279;279	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	279;279;279;279;279;115	ENSP00000334105:E279K;ENSP00000367734:E279K;ENSP00000278655:E279K;ENSP00000367754:E279K;ENSP00000367762:E279K;ENSP00000390616:E115K	ENSP00000278655:E279K	E	+	1	0	PLCB4	9308791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.262000	0.95591	2.696000	0.92011	0.650000	0.86243	GAA		0.299	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	44	0	0	0	0.557998	0	16	44				
KIF1A	547	broad.mit.edu	37	2	241725861	241725861	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:241725861G>A	ENST00000320389.7	-	6	657	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R167C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	167	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCCCTCACGCGAAGGTTGCCC	0.607																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(499-501)Cgc>Tgc		kinesin family member 1A							121.0	127.0	125.0					2																	241725861		2108	4245	6353	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241725861G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.499C>T	2.37:g.241725861G>A	ENSP00000322791:p.Arg167Cys					KIF1A_ENST00000320389.7_Missense_Mutation_p.R167C	p.R167C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	6	745	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	167			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.499C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431558	0.83776	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76839	-1.05;-1.05;-1.05	4.55	4.55	0.56014	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.88343	0.6411	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	D	0.90168	0.4233	10	0.87932	D	0	.	13.2244	0.59907	0.0:0.0:0.8403:0.1597	.	167;167;167	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	167	ENSP00000322791:R167C;ENSP00000438388:R167C;ENSP00000384231:R167C	ENSP00000322791:R167C	R	-	1	0	KIF1A	241374534	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	6.330000	0.72925	2.087000	0.62958	0.643000	0.83706	CGC		0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		32	111	0	0	0	0.760397	0	32	111				
TP53	7157	broad.mit.edu	37	17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578253C>A	ENST00000269305.4	-	6	785	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000420246.2_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACGCAAATTTCCTTCCACTCG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(4)|Deletion - In frame(1)|Complex - frameshift(1)	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)	central_nervous_system(8)|biliary_tract(6)|large_intestine(5)|breast(5)|peritoneum(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(595-597)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							118.0	106.0	110.0					17																	7578253		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578253C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.596G>T	17.37:g.7578253C>A	ENSP00000269305:p.Gly199Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V	p.G199V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	728	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	199		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.596G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317964	0.60524	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052866	0.85682	D	0.000000	D	0.99792	0.9912	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.987;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.999;0.999;0.883;0.999;0.999;0.999;1.0	D	0.97102	0.9798	10	0.87932	D	0	-10.2871	16.7921	0.85592	0.0:1.0:0.0:0.0	.	160;199;199;106;199;199;199	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	199;199;199;199;199;199;188;106;67;106;67	ENSP00000410739:G199V;ENSP00000352610:G199V;ENSP00000269305:G199V;ENSP00000398846:G199V;ENSP00000391127:G199V;ENSP00000391478:G199V;ENSP00000425104:G67V;ENSP00000423862:G106V	ENSP00000269305:G199V	G	-	2	0	TP53	7518978	1.000000	0.71417	0.976000	0.42696	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	53	1	0	4.74835e-14	0.750413	5.51044e-14	27	53				
CYP11B1	1584	broad.mit.edu	37	8	143960861	143960861	+	Intron	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:143960861C>T	ENST00000292427.4	-	1	272				CYP11B1_ENST00000377675.3_Missense_Mutation_p.R92K|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGCTGCACTCCTTCCCCATCT	0.647									Familial Hyperaldosteronism type I																													ENST00000377675.3																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(274-276)aGg>aAg		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						47.0	47.0	47.0					8																	143960861		876	1991	2867	SO:0001627	intron_variant	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960861C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.239+129G>A	8.37:g.143960861C>T						CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron	p.R92K			P15538	C11B1_HUMAN			2	281	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		80					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.275G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	0.296	-0.977068	0.02197	.	.	ENSG00000160882	ENST00000377675	T	0.74526	-0.85	3.13	2.1	0.27182	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.45279	-0.9272	8	0.34782	T	0.22	.	6.6021	0.22707	0.2846:0.7154:0.0:0.0	.	92	Q4VAR0	.	K	92	ENSP00000366903:R92K	ENSP00000366903:R92K	R	-	2	0	CYP11B1	143957863	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.694000	0.25512	1.677000	0.50941	0.484000	0.47621	AGG		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			27	42	0	0	0	0.693898	0	27	42				
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:7229901G>C	ENST00000349384.6	+	10	1883	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000379938.2_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1567-1569)acG>acC		ras responsive element binding protein 1							44.0	56.0	52.0					6																	7229901		2198	4296	6494	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229901G>C	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1569G>C	6.37:g.7229901G>C						RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T	p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2106	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	523			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1569G>C	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			10	104	0	0	0	0.870114	0	10	104				
SNCAIP	9627	broad.mit.edu	37	5	121776374	121776374	+	Silent	SNP	G	G	A	rs529418957	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:121776374G>A	ENST00000261368.8	+	7	1609	c.1347G>A	c.(1345-1347)tcG>tcA	p.S449S	SNCAIP_ENST00000542191.1_Silent_p.S7S|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.S496S|SNCAIP_ENST00000414317.2_Silent_p.S51S|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.S496S|SNCAIP_ENST00000379538.3_Silent_p.S83S|SNCAIP_ENST00000379536.2_Silent_p.S389S|SNCAIP_ENST00000503116.2_Silent_p.S496S|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	449					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGGCATCTCGTTGGATGAAG	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		17209	0.0		0.0	False		,,,				2504	0.002					ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1486-1488)tcG>tcA		synuclein, alpha interacting protein							150.0	145.0	147.0					5																	121776374		2203	4300	6503	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121776374G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1347G>A	5.37:g.121776374G>A						SNCAIP_ENST00000379538.3_Silent_p.S83S|SNCAIP_ENST00000542191.1_Silent_p.S7S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.S496S|SNCAIP_ENST00000261368.8_Silent_p.S449S|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.S389S|SNCAIP_ENST00000414317.2_Silent_p.S51S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_Silent_p.S496S|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA	p.S496S			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	9	2916	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	449					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.1488G>A	CCDS4131.1																																																																																				0.448	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			69	110	0	0	0	0.870114	0	69	110				
ARL2	402	broad.mit.edu	37	11	64787952	64787952	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:64787952C>T	ENST00000246747.4	+	4	496	c.401C>T	c.(400-402)tCc>tTc	p.S134F	RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|ARL2_ENST00000533729.1_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	134					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAGCACTGTCCTCTAACGCC	0.532																																						ENST00000246747.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						c.(400-402)tCc>tTc		ADP-ribosylation factor-like 2							45.0	38.0	41.0					11																	64787952		2200	4297	6497	SO:0001583	missense	402				cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	g.chr11:64787952C>T	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.401C>T	11.37:g.64787952C>T	ENSP00000246747:p.Ser134Phe					ARL2_ENST00000533729.1_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|SNX15_ENST00000301886.3_Intron	p.S134F	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN			4	496	+			134					G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	c.401C>T	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449155	0.84101	.	.	ENSG00000213465	ENST00000246747;ENST00000529384	T;T	0.68025	-0.3;-0.3	5.38	4.47	0.54385	Small GTP-binding protein domain (1);	0.144206	0.47852	U	0.000207	D	0.84192	0.5418	H	0.96080	3.765	0.80722	D	1	P	0.50066	0.931	P	0.57371	0.819	D	0.87858	0.2662	10	0.87932	D	0	-13.4656	11.6199	0.51111	0.0:0.9131:0.0:0.0869	.	134	P36404	ARL2_HUMAN	F	134	ENSP00000246747:S134F;ENSP00000436021:S134F	ENSP00000246747:S134F	S	+	2	0	ARL2	64544528	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.176000	0.65026	1.273000	0.44346	0.491000	0.48974	TCC		0.532	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		8	22	0	0	0	0.411799	0	8	22				
UNC13C	440279	broad.mit.edu	37	15	54306249	54306249	+	Silent	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:54306249C>G	ENST00000260323.11	+	1	1149	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	UNC13C_ENST00000545554.1_Silent_p.T383T|UNC13C_ENST00000537900.1_Silent_p.T383T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	383					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTTGAAACCCCTCAACAAA	0.388																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1147-1149)acC>acG		unc-13 homolog C (C. elegans)							73.0	69.0	70.0					15																	54306249		1830	4088	5918	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306249C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1149C>G	15.37:g.54306249C>G						UNC13C_ENST00000537900.1_Silent_p.T383T|UNC13C_ENST00000260323.11_Silent_p.T383T	p.T383T			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1149	+			383					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1149C>G	CCDS45264.1																																																																																				0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	89	0	0	0	0.435327	0	14	89				
MEF2A	4205	broad.mit.edu	37	15	100230590	100230590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:100230590G>A	ENST00000557785.1	+	8	1164	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	MEF2A_ENST00000558812.1_Missense_Mutation_p.R204Q|MEF2A_ENST00000354410.5_Missense_Mutation_p.R274Q|MEF2A_ENST00000449277.2_Missense_Mutation_p.R204Q|MEF2A_ENST00000557942.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000338042.6_Missense_Mutation_p.R272Q|MEF2A_ENST00000453228.2_Missense_Mutation_p.R272Q	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	274	Required for interaction with MAPKs.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CCAGATCTTCGAGTTGTCATC	0.433																																						ENST00000354410.5																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(820-822)cGa>cAa		myocyte enhancer factor 2A							61.0	59.0	60.0					15																	100230590		1901	4118	6019	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100230590G>A		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.815G>A	15.37:g.100230590G>A	ENSP00000453441:p.Arg272Gln					MEF2A_ENST00000558812.1_Missense_Mutation_p.R204Q|MEF2A_ENST00000557785.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000449277.2_Missense_Mutation_p.R204Q|MEF2A_ENST00000557942.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000338042.6_Missense_Mutation_p.R272Q|MEF2A_ENST00000453228.2_Missense_Mutation_p.R272Q	p.R274Q	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		8	1450	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		274			Required for interaction with MAPKs.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.821G>A	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	36	5.768549	0.96914	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.78456	2.415	0.45806	D	0.998682	D;D;D;D;D;D	0.89917	0.998;0.998;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.992;0.99;0.974;0.996;0.997;0.988	T	0.66582	-0.5887	10	0.87932	D	0	-15.2928	20.1589	0.98128	0.0:0.0:1.0:0.0	.	274;204;193;272;274;272	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	Q	272;274;272;204	ENSP00000404110:R272Q;ENSP00000346389:R274Q;ENSP00000337202:R272Q;ENSP00000399460:R204Q	ENSP00000337202:R272Q	R	+	2	0	MEF2A	98048113	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.647000	0.83462	2.769000	0.95229	0.650000	0.86243	CGA		0.433	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			22	25	0	0	0	0.667858	0	22	25				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				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)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			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.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	41	0	0	0	0.150653	0	3	41				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	23	0	0	0	0.184627	0	4	23				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	50	0	0	0	0.150653	0	4	50				
C3orf62	375341	broad.mit.edu	37	3	49314298	49314298	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:49314298T>C	ENST00000343010.3	-	1	1044	c.8A>G	c.(7-9)tAc>tGc	p.Y3C	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	3										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTTTATGTAATGCATTGG	0.443																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(7-9)tAc>tGc		chromosome 3 open reading frame 62							37.0	39.0	38.0					3																	49314298		2122	4226	6348	SO:0001583	missense	375341							g.chr3:49314298T>C	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.8A>G	3.37:g.49314298T>C	ENSP00000341139:p.Tyr3Cys						p.Y3C	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1044	-			3					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.8A>G	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860078	0.71834	.	.	ENSG00000188315	ENST00000343010	T	0.48836	0.8	4.3	-3.09	0.05331	.	1.178570	0.06438	N	0.725518	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24476	-1.0159	10	0.56958	D	0.05	-0.1179	5.4683	0.16656	0.0:0.1937:0.4833:0.323	.	3	Q6ZUJ4	CC062_HUMAN	C	3	ENSP00000341139:Y3C	ENSP00000341139:Y3C	Y	-	2	0	C3orf62	49289302	0.000000	0.05858	0.001000	0.08648	0.706000	0.40770	-0.732000	0.04904	-0.348000	0.08286	0.533000	0.62120	TAC		0.443	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		14	60	0	0	0	0.479597	0	14	60				
ARFGEF1	10565	broad.mit.edu	37	8	68123726	68123726	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:68123726G>A	ENST00000262215.3	-	34	5200	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1604					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTGCTGTAGATTTAATTTT	0.313																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4810-4812)tCt>tTt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							45.0	46.0	46.0					8																	68123726		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68123726G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4811C>T	8.37:g.68123726G>A	ENSP00000262215:p.Ser1604Phe					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F	p.S1604F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		34	5200	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1604					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4811C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.442046	0.43326	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.46819	0.86;0.86;0.86	5.23	4.34	0.51931	.	0.564019	0.17528	N	0.170974	T	0.37073	0.0990	L	0.29908	0.895	0.41117	D	0.985786	B;B;B	0.33073	0.396;0.022;0.38	B;B;B	0.32022	0.139;0.013;0.135	T	0.24977	-1.0145	10	0.48119	T	0.1	.	13.2649	0.60128	0.0:0.0:0.8316:0.1684	.	1604;1082;1058	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	F	1058;1604;442	ENSP00000428429:S1058F;ENSP00000262215:S1604F;ENSP00000430891:S442F	ENSP00000262215:S1604F	S	-	2	0	ARFGEF1	68286280	0.994000	0.37717	0.983000	0.44433	0.987000	0.75469	3.932000	0.56537	1.280000	0.44463	0.655000	0.94253	TCT		0.313	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		18	36	0	0	0	0.592651	0	18	36				
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020709	33020709	+	RNA	SNP	G	G	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:33020709G>C	ENST00000565407.2	+	0	117				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		CCCTGAGACTGTCCTGTCCAG	0.577																																						ENST00000565407.2																			0																				130.0	114.0	119.0					16																	33020709		1884	4108	5992			0							g.chr16:33020709G>C	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020709G>C						RP11-19N8.2_ENST00000567619.1_RNA								0	117	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.577	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			5	371	0	0	0	0.387290	0	5	371				
IL23R	149233	broad.mit.edu	37	1	67724721	67724721	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:67724721C>T	ENST00000347310.5	+	11	1971	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.I345I	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	600					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|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)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTTGGGGATCGTGAATGAGG	0.403																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1798-1800)atC>atT		interleukin 23 receptor							72.0	72.0	72.0					1																	67724721		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 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|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724721C>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1800C>T	1.37:g.67724721C>T						IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.I345I|IL23R_ENST00000371002.1_3'UTR	p.I600I	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1971	+			600					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1800C>T	CCDS637.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.412063	0.01145	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.4	3.38	0.38709	.	.	.	.	.	T	0.16642	0.0400	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14476	-1.0471	4	.	.	.	-18.3593	7.1285	0.25486	0.0:0.7358:0.1716:0.0926	.	.	.	.	L	362	.	.	S	+	2	0	IL23R	67497309	0.000000	0.05858	0.053000	0.19242	0.019000	0.09904	-0.815000	0.04481	1.247000	0.43917	0.655000	0.94253	TCG		0.403	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		63	68	0	0	0	0.870114	0	63	68				
SRGAP2	23380	broad.mit.edu	37	1	206566173	206566173	+	Missense_Mutation	SNP	G	G	A	rs376951626		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:206566173G>A	ENST00000414007.1	+	2	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	205	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAGACCCCACGCTCCCCTGAC	0.537																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(193-195)cGc>cAc		SLIT-ROBO Rho GTPase activating protein 2		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4368		0,0,2184	124.0	118.0	120.0		357,357,357	5.4	1.0	1		120	7,8569	2.2+/-6.3	0,7,4281	no	missense,missense,missense	SRGAP2	NM_001042758.1,NM_001170637.1,NM_015326.2	29,29,29	0,7,6465	AA,AG,GG		0.0816,0.0,0.0541	probably-damaging,probably-damaging,probably-damaging	205/837,205/1071,205/1072	206566173	7,12937	2184	4288	6472	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566173G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.194G>A	1.37:g.206566173G>A	ENSP00000390898:p.Arg65His					SRGAP2_ENST00000419187.2_5'UTR	p.R65H			O75044	FNBP2_HUMAN			2	194	+	Breast(84;0.137)		205			FCH.			Missense_Mutation	SNP	ENST00000414007.1	37	c.194G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.326225	0.95708	0.0	8.16E-4	ENSG00000163486	ENST00000414359;ENST00000414007	T	0.57752	0.38	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	.	.	.	0.80722	D	1.000000	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.87578	0.818;0.835;0.998	T	0.71286	-0.4638	8	0.34782	T	0.22	.	19.085	0.93200	0.0:0.0:1.0:0.0	.	52;205;205	B4DDU0;O75044;B7Z3G4	.;FNBP2_HUMAN;.	H	119;65	ENSP00000390898:R65H	ENSP00000390898:R65H	R	+	2	0	SRGAP2	204632796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.175000	0.94831	2.483000	0.83821	0.455000	0.32223	CGC		0.537	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		15	84	0	0	0	0.520397	0	15	84				
GCN1L1	10985	broad.mit.edu	37	12	120602289	120602289	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr12:120602289G>A	ENST00000300648.6	-	18	1711	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	567					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCAGAGCCCGGTGGTACTGC	0.632																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1699-1701)Cgg>Tgg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							42.0	46.0	45.0					12																	120602289		1984	4143	6127	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602289G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1699C>T	12.37:g.120602289G>A	ENSP00000300648:p.Arg567Trp						p.R567W	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			18	1711	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		567					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1699C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632653	0.87660	.	.	ENSG00000089154	ENST00000300648	T	0.05139	3.49	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.203350	0.47093	D	0.000257	T	0.21468	0.0517	M	0.70275	2.135	0.53688	D	0.999972	D	0.71674	0.998	P	0.60345	0.873	T	0.00018	-1.2366	10	0.62326	D	0.03	.	15.6931	0.77469	0.0:0.0:0.8626:0.1374	.	567	Q92616	GCN1L_HUMAN	W	567	ENSP00000300648:R567W	ENSP00000300648:R567W	R	-	1	2	GCN1L1	119086672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.997000	0.70646	2.769000	0.95229	0.655000	0.94253	CGG		0.632	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			53	87	0	0	0	0.870114	0	53	87				
GSTO2	119391	broad.mit.edu	37	10	106035064	106035064	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:106035064C>A	ENST00000338595.2	+	3	435	c.115C>A	c.(115-117)Cgc>Agc	p.R39S	GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000369707.2_Missense_Mutation_p.R11S|GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	39	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCACAGGACCCGCCTCGTCCT	0.622											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(115-117)Cgc>Agc		glutathione S-transferase omega 2	Glutathione(DB00143)						65.0	72.0	70.0					10																	106035064		2203	4300	6503	SO:0001583	missense	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106035064C>A	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.115C>A	10.37:g.106035064C>A	ENSP00000345023:p.Arg39Ser		OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1393	GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000369707.1_Missense_Mutation_p.R11S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S	p.R39S	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	3	743	+		Colorectal(252;0.178)	39			GST N-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.115C>A	CCDS7556.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985324	0.53934	.	.	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000401888;ENST00000369707;ENST00000429569	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.6	4.65	0.58169	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.137725	0.64402	D	0.000005	T	0.64605	0.2613	M	0.90595	3.13	0.53688	D	0.999973	P;D;D;D	0.89917	0.808;0.983;1.0;0.999	P;D;D;D	0.76575	0.593;0.929;0.988;0.973	T	0.69971	-0.5000	10	0.62326	D	0.03	-22.9183	12.3271	0.55018	0.255:0.7449:0.0:0.0	.	11;39;39;39	B4DML4;B4DJW6;B4DU59;Q9H4Y5	.;.;.;GSTO2_HUMAN	S	39;39;39;39;11;11	ENSP00000345023:R39S;ENSP00000390986:R39S;ENSP00000386011:R39S;ENSP00000358721:R11S;ENSP00000407381:R11S	ENSP00000345023:R39S	R	+	1	0	GSTO2	106025054	0.707000	0.27866	0.857000	0.33713	0.273000	0.26683	1.212000	0.32394	2.786000	0.95864	0.563000	0.77884	CGC		0.622	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		4	101	1	0	0.217242	0.217242	0.224404	4	101				
SALL1	6299	broad.mit.edu	37	16	51173983	51173983	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:51173983C>G	ENST00000251020.4	-	2	2183	c.2150G>C	c.(2149-2151)tGc>tCc	p.C717S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.C620S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	717					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCGCTCTGGCAGCTGAGAAC	0.517																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1858-1860)tGc>tCc		spalt-like transcription factor 1							67.0	68.0	67.0					16																	51173983		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173983C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2150G>C	16.37:g.51173983C>G	ENSP00000251020:p.Cys717Ser					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.C717S	p.C620S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2290	-		all_cancers(37;0.0322)	717					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1859G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260925	0.59431	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07114	3.22;3.22	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.83223	2.63	0.80722	D	1	P	0.47350	0.894	P	0.60541	0.876	T	0.03384	-1.1042	10	0.21540	T	0.41	.	19.0235	0.92923	0.0:1.0:0.0:0.0	.	717	Q9NSC2	SALL1_HUMAN	S	717;620;681	ENSP00000251020:C717S;ENSP00000407914:C620S	ENSP00000251020:C717S	C	-	2	0	SALL1	49731484	1.000000	0.71417	0.992000	0.48379	0.712000	0.41017	7.818000	0.86416	2.490000	0.84030	0.454000	0.30748	TGC		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		50	86	0	0	0	0.870114	0	50	86				
CYP2C8	1558	broad.mit.edu	37	10	96827286	96827286	+	Splice_Site	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:96827286C>A	ENST00000371270.3	-	2	425	c.331G>T	c.(331-333)Gga>Tga	p.G111*	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	111					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GTGCACCTACCAAGTCCTTTA	0.448																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.e2+1		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						111.0	109.0	110.0					10																	96827286		2203	4300	6503	SO:0001630	splice_region_variant	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827286C>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.331+1G>T	10.37:g.96827286C>A						CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	p.G111_splice	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	425	-		Colorectal(252;0.0397)	111					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Splice_Site	SNP	ENST00000371270.3	37	c.331_splice	CCDS7438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598566|3.598566	0.66332|0.66332	.|.	.|.	ENSG00000138115|ENSG00000138115	ENST00000371270|ENST00000535868	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	.|T	.|0.66228	.|0.2768	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61227	.|-0.7105	.|5	0.87932|0.22109	D|T	0|0.4	.|.	16.2015|16.2015	0.82084|0.82084	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	111|21	.|.	ENSP00000360317:G111X|ENSP00000437600:L21F	G|L	-|-	1|3	0|2	CYP2C8|CYP2C8	96817276|96817276	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.069000|0.069000	0.16628|0.16628	6.258000|6.258000	0.72487|0.72487	2.419000|2.419000	0.82065|0.82065	0.555000|0.555000	0.69702|0.69702	GGA|TTG		0.448	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	Nonsense_Mutation	21	173	1	0	1.50039e-11	0.608945	1.65926e-11	21	173				
ARHGEF15	22899	broad.mit.edu	37	17	8215726	8215726	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:8215726G>A	ENST00000361926.3	+	2	479	c.369G>A	c.(367-369)ccG>ccA	p.P123P	ARHGEF15_ENST00000421050.1_Silent_p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCAAGCCGTCTGGGTCAC	0.682																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(367-369)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 15							69.0	73.0	71.0					17																	8215726		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215726G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.369G>A	17.37:g.8215726G>A						ARHGEF15_ENST00000421050.1_Silent_p.P123P	p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	479	+			123			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.369G>A	CCDS11139.1																																																																																				0.682	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		21	271	0	0	0	0.592651	0	21	271				
PKHD1L1	93035	broad.mit.edu	37	8	110420309	110420309	+	Silent	SNP	T	T	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:110420309T>A	ENST00000378402.5	+	18	1949	c.1845T>A	c.(1843-1845)gtT>gtA	p.V615V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGAAGTAGTTGAAGGGAATA	0.348										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1843-1845)gtT>gtA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							91.0	89.0	89.0					8																	110420309		1852	4092	5944	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420309T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1845T>A	8.37:g.110420309T>A		HNSCC(38;0.096)					p.V615V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	1949	+			615					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.1845T>A	CCDS47911.1																																																																																				0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		35	44	0	0	0	0.819951	0	35	44				
CAMK1G	57172	broad.mit.edu	37	1	209781259	209781259	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:209781259G>A	ENST00000009105.1	+	7	861	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.G206S			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGGTCCATCGGCGTCATCAC	0.582																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(616-618)Ggc>Agc		calcium/calmodulin-dependent protein kinase IG							126.0	115.0	119.0					1																	209781259		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209781259G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.616G>A	1.37:g.209781259G>A	ENSP00000009105:p.Gly206Ser					CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.G206S	p.G206S			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	7	861	+			206			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.616G>A	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330083	0.95733	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	D;D	0.82081	-1.57;-1.57	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000041	D	0.95236	0.8455	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96834	0.9613	10	0.87932	D	0	.	19.6569	0.95845	0.0:0.0:1.0:0.0	.	206;206	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	S	206	ENSP00000009105:G206S;ENSP00000354861:G206S	ENSP00000009105:G206S	G	+	1	0	CAMK1G	207847882	1.000000	0.71417	0.989000	0.46669	0.893000	0.52053	9.507000	0.97996	2.652000	0.90054	0.561000	0.74099	GGC		0.582	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		61	127	0	0	0	0.870114	0	61	127				
TTN	7273	broad.mit.edu	37	2	179593776	179593776	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:179593776T>C	ENST00000591111.1	-	63	18262	c.18038A>G	c.(18037-18039)cAg>cGg	p.Q6013R	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q6330R|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12804	Ig-like 41.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAGAATCTGATCATCCTT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18988-18990)cAg>cGg		titin							61.0	58.0	59.0					2																	179593776		1846	4085	5931	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593776T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18038A>G	2.37:g.179593776T>C	ENSP00000465570:p.Gln6013Arg					TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	p.Q6330R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	19213	-			6013			Ig-like 44.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18989A>G		.	.	.	.	.	.	.	.	.	.	T	9.517	1.107167	0.20714	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51092	0.1654	N	0.16656	0.425	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50668	-0.8801	9	0.87932	D	0	.	11.4261	0.50012	0.0:0.0694:0.0:0.9305	.	6013	Q8WZ42	TITIN_HUMAN	R	5086	ENSP00000343764:Q5086R	ENSP00000343764:Q5086R	Q	-	2	0	TTN	179302021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.101000	0.50283	2.281000	0.76405	0.533000	0.62120	CAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	37	0	0	0	0.539581	0	19	37				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	96	0	0	0	0.150653	0	4	96				
ETNPPL	64850	broad.mit.edu	37	4	109667931	109667931	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:109667931G>T	ENST00000296486.3	-	10	1313	c.1159C>A	c.(1159-1161)Cac>Aac	p.H387N	ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	387						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TAGATGATGTGCTGAGCTTCA	0.488																																						ENST00000296486.3																			0											c.(1159-1161)Cac>Aac		ethanolamine-phosphate phospho-lyase							238.0	239.0	239.0					4																	109667931		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109667931G>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1159C>A	4.37:g.109667931G>T	ENSP00000296486:p.His387Asn					ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N	p.H387N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					10	1313	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1159C>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353293	0.41700	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.88	4.88	0.63580	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095266	0.64402	D	0.000001	T	0.39172	0.1068	L	0.46157	1.445	0.50632	D	0.999882	B;B;B	0.34103	0.271;0.391;0.437	B;B;B	0.35114	0.096;0.196;0.096	T	0.18681	-1.0329	9	.	.	.	-14.4414	16.5871	0.84730	0.0:0.0:1.0:0.0	.	329;381;387	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	N	387;381;329;347	ENSP00000296486:H387N;ENSP00000392269:H381N;ENSP00000427065:H329N;ENSP00000423240:H347N	.	H	-	1	0	AGXT2L1	109887380	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.130000	0.64745	2.398000	0.81561	0.650000	0.86243	CAC		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		5	422	1	0	0.184627	0.184627	0.192833	5	422				
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(2332-2334)cGg>cAg		unc-5 homolog A (C. elegans)							47.0	58.0	55.0					5																	176306459		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306459G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2333G>A	5.37:g.176306459G>A	ENSP00000332737:p.Arg778Gln					UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	p.R778Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2607	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	778			Death.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2333G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170142	0.78452	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86865	-2.18;-2.18	5.15	3.38	0.38709	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	L	0.59436	1.845	0.46701	D	0.999167	P	0.36535	0.557	B	0.22386	0.039	T	0.75068	-0.3448	10	0.30078	T	0.28	-38.2605	10.3637	0.44010	0.1594:0.0:0.8406:0.0	.	778	Q6ZN44	UNC5A_HUMAN	Q	778;738	ENSP00000332737:R778Q;ENSP00000261961:R738Q	ENSP00000261961:R738Q	R	+	2	0	UNC5A	176239065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.612000	0.98347	0.765000	0.33221	0.561000	0.74099	CGG		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		83	142	0	0	0	0.870114	0	83	142				
GBF1	8729	broad.mit.edu	37	10	104120022	104120022	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr10:104120022G>A	ENST00000369983.3	+	12	1519	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	420					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCACACGACCGCCATAACTCA	0.582																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1258-1260)cGc>cAc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							270.0	266.0	267.0					10																	104120022		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104120022G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1259G>A	10.37:g.104120022G>A	ENSP00000359000:p.Arg420His					GBF1_ENST00000476019.1_Intron	p.R420H	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	12	1519	+		Colorectal(252;0.0236)	420					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1259G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612547	0.96637	.	.	ENSG00000107862	ENST00000369983	T	0.42513	0.97	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.991;0.999	T	0.57723	-0.7762	10	0.35671	T	0.21	-12.3815	19.4065	0.94649	0.0:0.0:1.0:0.0	.	420;420;420	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	H	420	ENSP00000359000:R420H	ENSP00000359000:R420H	R	+	2	0	GBF1	104110012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.826000	0.99387	2.580000	0.87095	0.650000	0.86243	CGC		0.582	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			5	291	0	0	0	0.217242	0	5	291				
OR1C1	26188	broad.mit.edu	37	1	247921334	247921334	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:247921334C>T	ENST00000408896.2	-	1	648	c.375G>A	c.(373-375)gcG>gcA	p.A125A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTGGCAAATCGCCACATATC	0.507																																						ENST00000408896.2																			1	Substitution - coding silent(1)	p.A125A(1)	central_nervous_system(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(373-375)gcG>gcA		olfactory receptor, family 1, subfamily C, member 1							73.0	69.0	70.0					1																	247921334		2015	4176	6191	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921334C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.375G>A	1.37:g.247921334C>T							p.A125A	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	648	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	125					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.375G>A	CCDS41481.1																																																																																				0.507	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			35	56	0	0	0	0.812448	0	35	56				
ADAMTS15	170689	broad.mit.edu	37	11	130340830	130340830	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr11:130340830T>C	ENST00000299164.2	+	6	1736	c.1736T>C	c.(1735-1737)tTc>tCc	p.F579S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	579	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGAAAGAGCTTCCGGGAGGAG	0.612																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1735-1737)tTc>tCc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							108.0	116.0	113.0					11																	130340830		2201	4296	6497	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130340830T>C	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1736T>C	11.37:g.130340830T>C	ENSP00000299164:p.Phe579Ser						p.F579S	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	6	1736	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	579			Cys-rich.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1736T>C	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212643	0.79240	.	.	ENSG00000166106	ENST00000299164	T	0.06371	3.31	5.78	5.78	0.91487	.	.	.	.	.	T	0.32971	0.0847	M	0.93550	3.43	0.58432	D	0.999999	D	0.71674	0.998	P	0.62298	0.9	T	0.45527	-0.9255	9	0.87932	D	0	.	16.1081	0.81237	0.0:0.0:0.0:1.0	.	579	Q8TE58	ATS15_HUMAN	S	579	ENSP00000299164:F579S	ENSP00000299164:F579S	F	+	2	0	ADAMTS15	129846040	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.192000	0.50989	2.194000	0.70268	0.533000	0.62120	TTC		0.612	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		95	231	0	0	0	0.870114	0	95	231				
IFNA16	3449	broad.mit.edu	37	9	21216869	21216869	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr9:21216869A>G	ENST00000380216.1	-	1	441	c.436T>C	c.(436-438)Tac>Cac	p.Y146H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	146					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTTTGAAAGTATTTCCTCACA	0.463																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(436-438)Tac>Cac		interferon, alpha 16							227.0	218.0	221.0					9																	21216869		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21216869A>G		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.436T>C	9.37:g.21216869A>G	ENSP00000369564:p.Tyr146His						p.Y146H	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	441	-			146					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.436T>C	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	12.47	1.947443	0.34377	.	.	ENSG00000147885	ENST00000380216	T	0.17054	2.3	2.62	-1.8	0.07907	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	H	0.97214	3.96	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37197	-0.9716	10	0.87932	D	0	.	3.437	0.07449	0.5415:0.2037:0.2548:0.0	.	146	P05015	IFN16_HUMAN	H	146	ENSP00000369564:Y146H	ENSP00000369564:Y146H	Y	-	1	0	IFNA16	21206869	0.520000	0.26250	0.004000	0.12327	0.081000	0.17604	0.916000	0.28651	-0.512000	0.06505	0.155000	0.16302	TAC		0.463	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		192	273	0	0	0	0.870114	0	192	273				
C3orf62	375341	broad.mit.edu	37	3	49314298	49314298	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr3:49314298T>C	ENST00000343010.3	-	1	1044	c.8A>G	c.(7-9)tAc>tGc	p.Y3C	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	3										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTTTATGTAATGCATTGG	0.443																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(7-9)tAc>tGc		chromosome 3 open reading frame 62							37.0	39.0	38.0					3																	49314298		2122	4226	6348	SO:0001583	missense	375341							g.chr3:49314298T>C	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.8A>G	3.37:g.49314298T>C	ENSP00000341139:p.Tyr3Cys						p.Y3C	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1044	-			3					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.8A>G	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860078	0.71834	.	.	ENSG00000188315	ENST00000343010	T	0.48836	0.8	4.3	-3.09	0.05331	.	1.178570	0.06438	N	0.725518	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24476	-1.0159	10	0.56958	D	0.05	-0.1179	5.4683	0.16656	0.0:0.1937:0.4833:0.323	.	3	Q6ZUJ4	CC062_HUMAN	C	3	ENSP00000341139:Y3C	ENSP00000341139:Y3C	Y	-	2	0	C3orf62	49289302	0.000000	0.05858	0.001000	0.08648	0.706000	0.40770	-0.732000	0.04904	-0.348000	0.08286	0.533000	0.62120	TAC		0.443	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		14	60	0	0	0	0.479597	0	14	60				
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(469-471)Gtc>Ttc	Other conserved DNA damage response genes	tumor protein p53							50.0	52.0	51.0					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F	p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	73	1	0	2.55665e-31	0.870114	3.06077e-31	46	73				
CYP2F1	1572	broad.mit.edu	37	19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562																																						ENST00000331105.2																			1	Substitution - Nonsense(1)	p.R120*(1)	large_intestine(1)	central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(358-360)Cga>Tga		cytochrome P450, family 2, subfamily F, polypeptide 1							97.0	92.0	94.0					19																	41626275		2203	4300	6503	SO:0001587	stop_gained	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41626275C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.358C>T	19.37:g.41626275C>T	ENSP00000333534:p.Arg120*						p.R120*	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			4	430	+			120					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Nonsense_Mutation	SNP	ENST00000331105.2	37	c.358C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158827	0.38119	.	.	ENSG00000197446	ENST00000331105	.	.	.	4.25	0.388	0.16264	.	0.214943	0.38058	U	0.001821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2291	0.03992	0.3239:0.2949:0.2842:0.0969	.	.	.	.	X	120	.	ENSP00000333534:R120X	R	+	1	2	CYP2F1	46318115	0.000000	0.05858	0.189000	0.23252	0.189000	0.23516	-0.842000	0.04354	0.413000	0.25759	-0.335000	0.08231	CGA		0.562	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			63	111	0	0	0	0.870114	0	63	111				
KIF1A	547	broad.mit.edu	37	2	241725861	241725861	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr2:241725861G>A	ENST00000320389.7	-	6	657	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R167C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	167	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCCCTCACGCGAAGGTTGCCC	0.607																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(499-501)Cgc>Tgc		kinesin family member 1A							121.0	127.0	125.0					2																	241725861		2108	4245	6353	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241725861G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.499C>T	2.37:g.241725861G>A	ENSP00000322791:p.Arg167Cys					KIF1A_ENST00000320389.7_Missense_Mutation_p.R167C	p.R167C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	6	745	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	167			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.499C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431558	0.83776	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76839	-1.05;-1.05;-1.05	4.55	4.55	0.56014	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.88343	0.6411	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	D	0.90168	0.4233	10	0.87932	D	0	.	13.2244	0.59907	0.0:0.0:0.8403:0.1597	.	167;167;167	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	167	ENSP00000322791:R167C;ENSP00000438388:R167C;ENSP00000384231:R167C	ENSP00000322791:R167C	R	-	1	0	KIF1A	241374534	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	6.330000	0.72925	2.087000	0.62958	0.643000	0.83706	CGC		0.607	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		32	111	0	0	0	0.760397	0	32	111				
ARFGEF1	10565	broad.mit.edu	37	8	68123726	68123726	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr8:68123726G>A	ENST00000262215.3	-	34	5200	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1604					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTGCTGTAGATTTAATTTT	0.313																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4810-4812)tCt>tTt		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							45.0	46.0	46.0					8																	68123726		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68123726G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4811C>T	8.37:g.68123726G>A	ENSP00000262215:p.Ser1604Phe					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F	p.S1604F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		34	5200	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1604					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4811C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.442046	0.43326	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.46819	0.86;0.86;0.86	5.23	4.34	0.51931	.	0.564019	0.17528	N	0.170974	T	0.37073	0.0990	L	0.29908	0.895	0.41117	D	0.985786	B;B;B	0.33073	0.396;0.022;0.38	B;B;B	0.32022	0.139;0.013;0.135	T	0.24977	-1.0145	10	0.48119	T	0.1	.	13.2649	0.60128	0.0:0.0:0.8316:0.1684	.	1604;1082;1058	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	F	1058;1604;442	ENSP00000428429:S1058F;ENSP00000262215:S1604F;ENSP00000430891:S442F	ENSP00000262215:S1604F	S	-	2	0	ARFGEF1	68286280	0.994000	0.37717	0.983000	0.44433	0.987000	0.75469	3.932000	0.56537	1.280000	0.44463	0.655000	0.94253	TCT		0.313	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		18	36	0	0	0	0.592651	0	18	36				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			0							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		5	121	0	0	0	0.184627	0	5	121				
FAF2	23197	broad.mit.edu	37	5	175933901	175933901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:175933901G>T	ENST00000261942.6	+	11	1341	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	430	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ACAGGAGGCCGGACTCAGCCA	0.512																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.(1288-1290)Gga>Tga		Fas associated factor family member 2							105.0	109.0	108.0					5																	175933901		2203	4300	6503	SO:0001587	stop_gained	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175933901G>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.1288G>T	5.37:g.175933901G>T	ENSP00000261942:p.Gly430*						p.G430*	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN			11	1341	+			430			UBX.		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Nonsense_Mutation	SNP	ENST00000261942.6	37	c.1288G>T	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436408	0.96168	.	.	ENSG00000113194	ENST00000261942	.	.	.	4.89	4.02	0.46733	.	0.103679	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.4864	13.3894	0.60813	0.0758:0.0:0.9242:0.0	.	.	.	.	X	430	.	ENSP00000261942:G430X	G	+	1	0	FAF2	175866507	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	9.222000	0.95196	1.277000	0.44412	0.561000	0.74099	GGA		0.512	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		4	183	1	0	0.00909568	0.150653	0.00966416	4	183				
CYP11B1	1584	broad.mit.edu	37	8	143960861	143960861	+	Intron	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr8:143960861C>T	ENST00000292427.4	-	1	272				CYP11B1_ENST00000377675.3_Missense_Mutation_p.R92K|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGCTGCACTCCTTCCCCATCT	0.647									Familial Hyperaldosteronism type I																													ENST00000377675.3																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(274-276)aGg>aAg		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						47.0	47.0	47.0					8																	143960861		876	1991	2867	SO:0001627	intron_variant	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960861C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.239+129G>A	8.37:g.143960861C>T						CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron	p.R92K			P15538	C11B1_HUMAN			2	281	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		80					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.275G>A	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	C	0.296	-0.977068	0.02197	.	.	ENSG00000160882	ENST00000377675	T	0.74526	-0.85	3.13	2.1	0.27182	.	.	.	.	.	T	0.58047	0.2095	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.45279	-0.9272	8	0.34782	T	0.22	.	6.6021	0.22707	0.2846:0.7154:0.0:0.0	.	92	Q4VAR0	.	K	92	ENSP00000366903:R92K	ENSP00000366903:R92K	R	-	2	0	CYP11B1	143957863	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.694000	0.25512	1.677000	0.50941	0.484000	0.47621	AGG		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			27	42	0	0	0	0.693898	0	27	42				
SLITRK2	84631	broad.mit.edu	37	X	144906346	144906346	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chrX:144906346C>T	ENST00000370490.1	+	1	6658	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T|SLITRK2_ENST00000413937.2_Silent_p.T801T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	801					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATAAAACCGTTTTATATG	0.468																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2401-2403)acC>acT		SLIT and NTRK-like family, member 2							108.0	105.0	106.0					X																	144906346		2203	4300	6503	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144906346C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2403C>T	X.37:g.144906346C>T						SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T	p.T801T			Q9H156	SLIK2_HUMAN			1	6658	+	Acute lymphoblastic leukemia(192;6.56e-05)		801					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.2403C>T	CCDS14680.1																																																																																				0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		7	153	0	0	0	0.278610	0	7	153				
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020709	33020709	+	RNA	SNP	G	G	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr16:33020709G>C	ENST00000565407.2	+	0	117				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		CCCTGAGACTGTCCTGTCCAG	0.577																																						ENST00000565407.2																			0																				130.0	114.0	119.0					16																	33020709		1884	4108	5992			0							g.chr16:33020709G>C	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020709G>C						RP11-19N8.2_ENST00000567619.1_RNA								0	117	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.577	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			5	371	0	0	0	0.387290	0	5	371				
PLCB4	5332	broad.mit.edu	37	20	9360791	9360791	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr20:9360791G>A	ENST00000378493.1	+	10	850	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378501.2_Missense_Mutation_p.E279K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	279					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAACCTGATGAAGATTTGAA	0.299																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(835-837)Gaa>Aaa		phospholipase C, beta 4							53.0	51.0	52.0					20																	9360791		2203	4296	6499	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9360791G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.835G>A	20.37:g.9360791G>A	ENSP00000367754:p.Glu279Lys					PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR	p.E279K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			10	850	+			279					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.835G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170542	0.57584	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.41	5.41	0.78517	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.154045	0.56097	D	0.000030	T	0.39358	0.1075	N	0.25144	0.715	0.80722	D	1	B;B;P;B	0.37061	0.4;0.01;0.58;0.001	B;B;B;B	0.40256	0.243;0.022;0.324;0.01	T	0.10359	-1.0633	10	0.15066	T	0.55	.	19.552	0.95324	0.0:0.0:1.0:0.0	.	279;126;279;279	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	279;279;279;279;279;115	ENSP00000334105:E279K;ENSP00000367734:E279K;ENSP00000278655:E279K;ENSP00000367754:E279K;ENSP00000367762:E279K;ENSP00000390616:E115K	ENSP00000278655:E279K	E	+	1	0	PLCB4	9308791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.262000	0.95591	2.696000	0.92011	0.650000	0.86243	GAA		0.299	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			16	44	0	0	0	0.557998	0	16	44				
FEM1A	55527	broad.mit.edu	37	19	4792977	4792977	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr19:4792977C>T	ENST00000269856.3	+	1	1250	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	371					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGATGAGATGCGCATGCAGGC	0.632																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1111-1113)Cgc>Tgc		fem-1 homolog a (C. elegans)							50.0	51.0	51.0					19																	4792977		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792977C>T	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1111C>T	19.37:g.4792977C>T	ENSP00000269856:p.Arg371Cys					AC005523.2_ENST00000601192.1_RNA	p.R371C	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1250	+		Hepatocellular(1079;0.137)	371					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1111C>T	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845545	0.51164	.	.	ENSG00000141965	ENST00000269856	T	0.71341	-0.56	4.88	3.75	0.43078	.	0.000000	0.64402	U	0.000002	D	0.86289	0.5897	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89366	0.3671	10	0.72032	D	0.01	-19.7374	14.0361	0.64646	0.2515:0.7485:0.0:0.0	.	371	Q9BSK4	FEM1A_HUMAN	C	371	ENSP00000269856:R371C	ENSP00000269856:R371C	R	+	1	0	FEM1A	4743977	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.732000	0.26072	2.249000	0.74217	0.491000	0.48974	CGC		0.632	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			61	61	0	0	0	0.870114	0	61	61				
ARL2	402	broad.mit.edu	37	11	64787952	64787952	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr11:64787952C>T	ENST00000246747.4	+	4	496	c.401C>T	c.(400-402)tCc>tTc	p.S134F	RP11-399J13.3_ENST00000301886.3_Intron|ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|ARL2_ENST00000533729.1_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	134					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAGCACTGTCCTCTAACGCC	0.532																																						ENST00000246747.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						c.(400-402)tCc>tTc		ADP-ribosylation factor-like 2							45.0	38.0	41.0					11																	64787952		2200	4297	6497	SO:0001583	missense	402				cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	g.chr11:64787952C>T	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.401C>T	11.37:g.64787952C>T	ENSP00000246747:p.Ser134Phe					ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|SNX15_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron	p.S134F	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN			4	496	+			134					G3V184|Q9BUK8	Missense_Mutation	SNP	ENST00000246747.4	37	c.401C>T	CCDS8088.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449155	0.84101	.	.	ENSG00000213465	ENST00000246747;ENST00000529384	T;T	0.68025	-0.3;-0.3	5.38	4.47	0.54385	Small GTP-binding protein domain (1);	0.144206	0.47852	U	0.000207	D	0.84192	0.5418	H	0.96080	3.765	0.80722	D	1	P	0.50066	0.931	P	0.57371	0.819	D	0.87858	0.2662	10	0.87932	D	0	-13.4656	11.6199	0.51111	0.0:0.9131:0.0:0.0869	.	134	P36404	ARL2_HUMAN	F	134	ENSP00000246747:S134F;ENSP00000436021:S134F	ENSP00000246747:S134F	S	+	2	0	ARL2	64544528	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.176000	0.65026	1.273000	0.44346	0.491000	0.48974	TCC		0.532	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385963.1	NM_001667		8	22	0	0	0	0.411799	0	8	22				
COG6	57511	broad.mit.edu	37	13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr13:40239254G>A	ENST00000455146.3	+	4	441	c.391G>A	c.(391-393)Gat>Aat	p.D131N	COG6_ENST00000416691.1_Missense_Mutation_p.D131N|MIR4305_ENST00000583252.1_RNA	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	131					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACAGACTCAAGATTTAATAGT	0.274																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(391-393)Gat>Aat		component of oligomeric golgi complex 6							53.0	57.0	56.0					13																	40239254		2201	4293	6494	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40239254G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.391G>A	13.37:g.40239254G>A	ENSP00000397441:p.Asp131Asn					COG6_ENST00000455146.3_Missense_Mutation_p.D131N	p.D131N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	4	491	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	131					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.391G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654631	0.67472	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000422759;ENST00000455146	T;T;T	0.56103	0.48;0.48;0.48	5.72	4.88	0.63580	.	0.088146	0.85682	D	0.000000	T	0.58892	0.2154	L	0.55103	1.725	0.80722	D	1	D;B	0.57257	0.979;0.339	P;B	0.55508	0.777;0.147	T	0.54977	-0.8212	10	0.19147	T	0.46	-10.1424	13.3081	0.60363	0.0764:0.0:0.9236:0.0	.	152;131	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	N	131;162;131;131	ENSP00000403733:D131N;ENSP00000412877:D131N;ENSP00000397441:D131N	ENSP00000255468:D162N	D	+	1	0	COG6	39137254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.945000	0.92985	1.434000	0.47414	0.591000	0.81541	GAT		0.274	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			42	44	0	0	0	0.870114	0	42	44				
HPS6	79803	broad.mit.edu	37	10	103826538	103826538	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr10:103826538A>C	ENST00000299238.5	+	1	1392	c.1307A>C	c.(1306-1308)cAg>cCg	p.Q436P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	436					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CGGGCACCTCAGGCTCTGGCC	0.622									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1306-1308)cAg>cCg		Hermansky-Pudlak syndrome 6							49.0	53.0	52.0					10																	103826538		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826538A>C	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1307A>C	10.37:g.103826538A>C	ENSP00000299238:p.Gln436Pro						p.Q436P	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1392	+		Colorectal(252;0.122)	436					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1307A>C	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599392	0.46318	.	.	ENSG00000166189	ENST00000299238	T	0.77489	-1.1	5.27	4.08	0.47627	.	0.309345	0.31859	N	0.006942	T	0.69396	0.3106	L	0.51422	1.61	0.33902	D	0.638637	D	0.53745	0.962	B	0.42030	0.373	T	0.78526	-0.2170	10	0.49607	T	0.09	-14.828	8.3326	0.32195	0.6525:0.0:0.0:0.3475	.	436	Q86YV9	HPS6_HUMAN	P	436	ENSP00000299238:Q436P	ENSP00000299238:Q436P	Q	+	2	0	HPS6	103816528	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	4.206000	0.58473	2.216000	0.71823	0.459000	0.35465	CAG		0.622	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		24	125	0	0	0	0.639603	0	24	125				
ROS1	6098	broad.mit.edu	37	6	117630054	117630054	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr6:117630054C>T	ENST00000368508.3	-	41	6670	c.6472G>A	c.(6472-6474)Ggt>Agt	p.G2158S	ROS1_ENST00000368507.3_Missense_Mutation_p.G2152S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCTGATGACCAAGAGTTAAA	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(6472-6474)Ggt>Agt		c-ros oncogene 1 , receptor tyrosine kinase							86.0	82.0	83.0					6																	117630054		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117630054C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6472G>A	6.37:g.117630054C>T	ENSP00000357494:p.Gly2158Ser					ROS1_ENST00000368507.3_Missense_Mutation_p.G2152S	p.G2158S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	41	6670	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2158			Protein kinase.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6472G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764600	0.89932	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.92752	-3.1;-3.1	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000010	D	0.96288	0.8789	M	0.87456	2.885	0.49213	D	0.999768	D	0.89917	1.0	D	0.97110	1.0	D	0.96713	0.9527	10	0.72032	D	0.01	.	17.7464	0.88422	0.0:1.0:0.0:0.0	.	2158	P08922	ROS1_HUMAN	S	2158;2152	ENSP00000357494:G2158S;ENSP00000357493:G2152S	ENSP00000357493:G2152S	G	-	1	0	ROS1	117736747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.800000	0.69108	2.492000	0.84095	0.650000	0.86243	GGT		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			16	88	0	0	0	0.520397	0	16	88				
IL23R	149233	broad.mit.edu	37	1	67724721	67724721	+	Silent	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:67724721C>T	ENST00000347310.5	+	11	1971	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.I345I	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	600					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|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)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTTGGGGATCGTGAATGAGG	0.403																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1798-1800)atC>atT		interleukin 23 receptor							72.0	72.0	72.0					1																	67724721		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 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|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724721C>T	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1800C>T	1.37:g.67724721C>T						IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.I345I	p.I600I	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1971	+			600					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1800C>T	CCDS637.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.412063	0.01145	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.4	3.38	0.38709	.	.	.	.	.	T	0.16642	0.0400	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14476	-1.0471	4	.	.	.	-18.3593	7.1285	0.25486	0.0:0.7358:0.1716:0.0926	.	.	.	.	L	362	.	.	S	+	2	0	IL23R	67497309	0.000000	0.05858	0.053000	0.19242	0.019000	0.09904	-0.815000	0.04481	1.247000	0.43917	0.655000	0.94253	TCG		0.403	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		63	68	0	0	0	0.870114	0	63	68				
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr6:7229901G>C	ENST00000349384.6	+	10	1883	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000379938.2_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1567-1569)acG>acC		ras responsive element binding protein 1							44.0	56.0	52.0					6																	7229901		2198	4296	6494	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229901G>C	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1569G>C	6.37:g.7229901G>C						RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2106	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	523			Pro-rich.		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1569G>C	CCDS34336.1																																																																																				0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			10	104	0	0	0	0.870114	0	10	104				
ARHGEF15	22899	broad.mit.edu	37	17	8215726	8215726	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr17:8215726G>A	ENST00000361926.3	+	2	479	c.369G>A	c.(367-369)ccG>ccA	p.P123P	ARHGEF15_ENST00000421050.1_Silent_p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCAAGCCGTCTGGGTCAC	0.682																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(367-369)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 15							69.0	73.0	71.0					17																	8215726		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215726G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.369G>A	17.37:g.8215726G>A						ARHGEF15_ENST00000421050.1_Silent_p.P123P	p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	479	+			123			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.369G>A	CCDS11139.1																																																																																				0.682	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		21	271	0	0	0	0.592651	0	21	271				
GCN1L1	10985	broad.mit.edu	37	12	120602289	120602289	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr12:120602289G>A	ENST00000300648.6	-	18	1711	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	567					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCAGAGCCCGGTGGTACTGC	0.632																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1699-1701)Cgg>Tgg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							42.0	46.0	45.0					12																	120602289		1984	4143	6127	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602289G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1699C>T	12.37:g.120602289G>A	ENSP00000300648:p.Arg567Trp						p.R567W	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			18	1711	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		567					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1699C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632653	0.87660	.	.	ENSG00000089154	ENST00000300648	T	0.05139	3.49	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.203350	0.47093	D	0.000257	T	0.21468	0.0517	M	0.70275	2.135	0.53688	D	0.999972	D	0.71674	0.998	P	0.60345	0.873	T	0.00018	-1.2366	10	0.62326	D	0.03	.	15.6931	0.77469	0.0:0.0:0.8626:0.1374	.	567	Q92616	GCN1L_HUMAN	W	567	ENSP00000300648:R567W	ENSP00000300648:R567W	R	-	1	2	GCN1L1	119086672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.997000	0.70646	2.769000	0.95229	0.655000	0.94253	CGG		0.632	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			53	87	0	0	0	0.870114	0	53	87				
GPR87	53836	broad.mit.edu	37	3	151012286	151012286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr3:151012286G>A	ENST00000260843.4	-	3	1212	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	250					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTTATGTTTTCGCTTT	0.438																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(748-750)Cat>Tat		G protein-coupled receptor 87							125.0	111.0	116.0					3																	151012286		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012286G>A	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.748C>T	3.37:g.151012286G>A	ENSP00000260843:p.His250Tyr					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	p.H250Y	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1212	-			250					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.748C>T	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	7.881	0.730243	0.15507	.	.	ENSG00000138271	ENST00000260843	T	0.36520	1.25	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.130715	0.52532	D	0.000063	T	0.46483	0.1395	N	0.25647	0.755	0.48395	D	0.99964	D	0.59357	0.985	P	0.60012	0.867	T	0.42916	-0.9423	10	0.59425	D	0.04	-10.9622	19.2508	0.93925	0.0:0.0:1.0:0.0	.	250	Q9BY21	GPR87_HUMAN	Y	250	ENSP00000260843:H250Y	ENSP00000260843:H250Y	H	-	1	0	GPR87	152494976	1.000000	0.71417	0.245000	0.24217	0.989000	0.77384	3.283000	0.51701	2.719000	0.93026	0.655000	0.94253	CAT		0.438	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			85	141	0	0	0	0.870114	0	85	141				
SNCAIP	9627	broad.mit.edu	37	5	121776374	121776374	+	Silent	SNP	G	G	A	rs529418957	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:121776374G>A	ENST00000261368.8	+	7	1609	c.1347G>A	c.(1345-1347)tcG>tcA	p.S449S	SNCAIP_ENST00000542191.1_Silent_p.S7S|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.S496S|SNCAIP_ENST00000414317.2_Silent_p.S51S|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.S496S|SNCAIP_ENST00000379538.3_Silent_p.S83S|SNCAIP_ENST00000379536.2_Silent_p.S389S|SNCAIP_ENST00000503116.2_Silent_p.S496S|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	449					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGGCATCTCGTTGGATGAAG	0.448													G|||	2	0.000399361	0.0	0.0	5008	,	,		17209	0.0		0.0	False		,,,				2504	0.002					ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(1486-1488)tcG>tcA		synuclein, alpha interacting protein							150.0	145.0	147.0					5																	121776374		2203	4300	6503	SO:0001819	synonymous_variant	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121776374G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1347G>A	5.37:g.121776374G>A						SNCAIP_ENST00000379538.3_Silent_p.S83S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.S389S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.S51S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.S496S|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_Silent_p.S496S|SNCAIP_ENST00000542191.1_Silent_p.S7S|SNCAIP_ENST00000261368.8_Silent_p.S449S	p.S496S			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	9	2916	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	449					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	c.1488G>A	CCDS4131.1																																																																																				0.448	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			69	110	0	0	0	0.870114	0	69	110				
MUC5B	727897	broad.mit.edu	37	11	1264675	1264675	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr11:1264675C>A	ENST00000529681.1	+	31	6623	c.6565C>A	c.(6565-6567)Cca>Aca	p.P2189T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2192T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2189	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				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)		CCACACACCCCCAGTGCCGAA	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6574-6576)Cca>Aca		mucin 5B, oligomeric mucus/gel-forming							31.0	59.0	50.0					11																	1264675		1915	4022	5937	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264675C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6565C>A	11.37:g.1264675C>A	ENSP00000436812:p.Pro2189Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.P2189T|RP11-532E4.2_ENST00000532061.2_RNA	p.P2192T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6632	+		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)	2189			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6574C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	2.271	-0.367084	0.05069	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18338	2.22;2.4	1.95	-3.89	0.04193	.	.	.	.	.	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.31223	-0.9951	9	0.87932	D	0	.	0.9397	0.01352	0.4259:0.2555:0.1646:0.154	.	2827;2192	A7Y9J9;E9PBJ0	.;.	T	2189;2192;2190;2204	ENSP00000436812:P2189T;ENSP00000415793:P2192T	ENSP00000343037:P2190T	P	+	1	0	MUC5B	1221251	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-10.838000	0.00005	-1.597000	0.01609	0.195000	0.17529	CCA		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		16	7	1	0	3.51602e-12	0.575678	3.93239e-12	16	7				
CHST6	4166	broad.mit.edu	37	16	75513511	75513511	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr16:75513511G>A	ENST00000332272.4	-	3	395	c.216C>T	c.(214-216)ccC>ccT	p.P72P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P72P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	72			P -> S (in MCDC1). {ECO:0000269|PubMed:11818380, ECO:0000269|PubMed:15013869}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGTGCCACGCGGGCTCCATTA	0.667																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(214-216)ccC>ccT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							42.0	35.0	37.0					16																	75513511		2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513511G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.216C>T	16.37:g.75513511G>A						CHST6_ENST00000390664.2_Silent_p.P72P|RP11-77K12.4_ENST00000530512.3_RNA	p.P72P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	395	-			72		P -> S (in MCD).			D3DUK3	Silent	SNP	ENST00000332272.4	37	c.216C>T	CCDS10918.1																																																																																				0.667	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		22	19	0	0	0	0.639603	0	22	19				
TP53	7157	broad.mit.edu	37	17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr17:7578253C>A	ENST00000269305.4	-	6	785	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000420246.2_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACGCAAATTTCCTTCCACTCG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(4)|Deletion - In frame(1)|Complex - frameshift(1)	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)	central_nervous_system(8)|biliary_tract(6)|large_intestine(5)|breast(5)|peritoneum(4)|bone(4)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(595-597)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							118.0	106.0	110.0					17																	7578253		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578253C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.596G>T	17.37:g.7578253C>A	ENSP00000269305:p.Gly199Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000269305.4_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron	p.G199V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	728	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	199		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.596G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317964	0.60524	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052866	0.85682	D	0.000000	D	0.99792	0.9912	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.987;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.999;0.999;0.883;0.999;0.999;0.999;1.0	D	0.97102	0.9798	10	0.87932	D	0	-10.2871	16.7921	0.85592	0.0:1.0:0.0:0.0	.	160;199;199;106;199;199;199	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	199;199;199;199;199;199;188;106;67;106;67	ENSP00000410739:G199V;ENSP00000352610:G199V;ENSP00000269305:G199V;ENSP00000398846:G199V;ENSP00000391127:G199V;ENSP00000391478:G199V;ENSP00000425104:G67V;ENSP00000423862:G106V	ENSP00000269305:G199V	G	-	2	0	TP53	7518978	1.000000	0.71417	0.976000	0.42696	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	53	1	0	4.74835e-14	0.750413	5.45419e-14	27	53				
KRTAP5-7	440050	broad.mit.edu	37	11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(268-270)tGt>tAt		keratin associated protein 5-7							74.0	97.0	89.0					11																	71238615		2199	4294	6493	SO:0001583	missense	440050					keratin filament		g.chr11:71238615G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.269G>A	11.37:g.71238615G>A	ENSP00000417330:p.Cys90Tyr						p.C90Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	303	+			90			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.269G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	5.324	0.245132	0.10077	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.56	-0.879	0.10613	.	.	.	.	.	T	0.02342	0.0072	M	0.83223	2.63	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40553	-0.9557	9	0.54805	T	0.06	.	2.6036	0.04872	0.3779:0.2657:0.3565:0.0	.	90	Q6L8G8	KRA57_HUMAN	Y	90	ENSP00000417330:C90Y	ENSP00000417330:C90Y	C	+	2	0	KRTAP5-7	70916263	1.000000	0.71417	0.000000	0.03702	0.026000	0.11368	3.535000	0.53575	-0.206000	0.10203	0.162000	0.16502	TGT		0.647	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			6	459	0	0	0	0.335167	0	6	459				
GSTO2	119391	broad.mit.edu	37	10	106035064	106035064	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr10:106035064C>A	ENST00000338595.2	+	3	435	c.115C>A	c.(115-117)Cgc>Agc	p.R39S	GSTO2_ENST00000450629.2_Missense_Mutation_p.R39S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000369707.2_Missense_Mutation_p.R11S|GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	39	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCACAGGACCCGCCTCGTCCT	0.622											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000450629.2																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(115-117)Cgc>Agc		glutathione S-transferase omega 2	Glutathione(DB00143)						65.0	72.0	70.0					10																	106035064		2203	4300	6503	SO:0001583	missense	119391				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr10:106035064C>A	AY191318	CCDS7556.1, CCDS53574.1, CCDS53575.1	10q25.1	2012-06-21			ENSG00000065621	ENSG00000065621	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	23064	protein-coding gene	gene with protein product		612314				12618591	Standard	NM_001191013		Approved		uc001kyb.3	Q9H4Y5	OTTHUMG00000019006	ENST00000338595.2:c.115C>A	10.37:g.106035064C>A	ENSP00000345023:p.Arg39Ser		OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1393	GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000369707.1_Missense_Mutation_p.R11S|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S	p.R39S	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	3	743	+		Colorectal(252;0.178)	39			GST N-terminal.		A8K771|B4DJW6|E7ESD6|Q49TW5|Q5GM70|Q5JU15|Q86WP3	Missense_Mutation	SNP	ENST00000338595.2	37	c.115C>A	CCDS7556.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985324	0.53934	.	.	ENSG00000065621	ENST00000369708;ENST00000338595;ENST00000450629;ENST00000401888;ENST00000369707;ENST00000429569	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.6	4.65	0.58169	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.137725	0.64402	D	0.000005	T	0.64605	0.2613	M	0.90595	3.13	0.53688	D	0.999973	P;D;D;D	0.89917	0.808;0.983;1.0;0.999	P;D;D;D	0.76575	0.593;0.929;0.988;0.973	T	0.69971	-0.5000	10	0.62326	D	0.03	-22.9183	12.3271	0.55018	0.255:0.7449:0.0:0.0	.	11;39;39;39	B4DML4;B4DJW6;B4DU59;Q9H4Y5	.;.;.;GSTO2_HUMAN	S	39;39;39;39;11;11	ENSP00000345023:R39S;ENSP00000390986:R39S;ENSP00000386011:R39S;ENSP00000358721:R11S;ENSP00000407381:R11S	ENSP00000345023:R39S	R	+	1	0	GSTO2	106025054	0.707000	0.27866	0.857000	0.33713	0.273000	0.26683	1.212000	0.32394	2.786000	0.95864	0.563000	0.77884	CGC		0.622	GSTO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050210.2	NM_183239		4	101	1	0	0.217242	0.217242	0.22519	4	101				
RYR2	6262	broad.mit.edu	37	1	237947932	237947932	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:237947932G>A	ENST00000366574.2	+	90	13237	c.12920G>A	c.(12919-12921)cGc>cAc	p.R4307H	RYR2_ENST00000542537.1_Missense_Mutation_p.R4291H|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4313H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4307					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4305L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTTTTCCGCATCATTTGC	0.502																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.R4305L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12919-12921)cGc>cAc		ryanodine receptor 2 (cardiac)							78.0	76.0	77.0					1																	237947932		1918	4126	6044	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947932G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12920G>A	1.37:g.237947932G>A	ENSP00000355533:p.Arg4307His					RYR2_ENST00000542537.1_Missense_Mutation_p.R4291H|RYR2_ENST00000360064.6_Missense_Mutation_p.R4313H	p.R4307H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13237	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4307					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12920G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	2.223	-0.377914	0.05000	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96554	-0.29;-4.05;-0.29	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	D	0.91064	0.7188	L	0.38175	1.15	0.22851	N	0.99865	B;B	0.27316	0.022;0.175	B;B	0.12156	0.006;0.007	T	0.78788	-0.2067	10	0.16420	T	0.52	-11.0906	8.1681	0.31239	0.0786:0.0:0.7635:0.1579	.	1281;4307	B4DGV4;Q92736	.;RYR2_HUMAN	H	4307;4313;4291;1281	ENSP00000355533:R4307H;ENSP00000353174:R4313H;ENSP00000443798:R4291H	ENSP00000353174:R4313H	R	+	2	0	RYR2	236014555	1.000000	0.71417	0.643000	0.29450	0.474000	0.32979	3.788000	0.55446	2.657000	0.90304	0.655000	0.94253	CGC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		48	71	0	0	0	0.870114	0	48	71				
SALL1	6299	broad.mit.edu	37	16	51173983	51173983	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr16:51173983C>G	ENST00000251020.4	-	2	2183	c.2150G>C	c.(2149-2151)tGc>tCc	p.C717S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.C620S	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	717					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCGCTCTGGCAGCTGAGAAC	0.517																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1858-1860)tGc>tCc		spalt-like transcription factor 1							67.0	68.0	67.0					16																	51173983		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173983C>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2150G>C	16.37:g.51173983C>G	ENSP00000251020:p.Cys717Ser					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.C717S|SALL1_ENST00000541611.1_Intron	p.C620S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2290	-		all_cancers(37;0.0322)	717					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1859G>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260925	0.59431	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07114	3.22;3.22	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.83223	2.63	0.80722	D	1	P	0.47350	0.894	P	0.60541	0.876	T	0.03384	-1.1042	10	0.21540	T	0.41	.	19.0235	0.92923	0.0:1.0:0.0:0.0	.	717	Q9NSC2	SALL1_HUMAN	S	717;620;681	ENSP00000251020:C717S;ENSP00000407914:C620S	ENSP00000251020:C717S	C	-	2	0	SALL1	49731484	1.000000	0.71417	0.992000	0.48379	0.712000	0.41017	7.818000	0.86416	2.490000	0.84030	0.454000	0.30748	TGC		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		50	86	0	0	0	0.870114	0	50	86				
SDHC	6391	broad.mit.edu	37	1	161326467	161326467	+	Splice_Site	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:161326467G>A	ENST00000367975.2	+	5	391	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Splice_Site_p.G28E|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000432287.2_Splice_Site_p.G47E	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	81					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTCTCCTCAGGGGTCTCTCTT	0.468			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													ENST00000367975.2			yes	Rec		Familial paraganglioma	1	1q21	6391	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""			O		"""paraganglioma, pheochromocytoma"""			0				urinary_tract(1)	1						c.e5-1		succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	Succinic acid(DB00139)						115.0	117.0	116.0					1																	161326467		2203	4300	6503	SO:0001630	splice_region_variant	6391	Familial Paragangliomas;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity	g.chr1:161326467G>A	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.242-1G>A	1.37:g.161326467G>A						SDHC_ENST00000470743.2_Splice_Site|SDHC_ENST00000432287.2_Splice_Site_p.G47_splice|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Splice_Site_p.G28_splice	p.G81_splice	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	391	+	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		81					O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Splice_Site	SNP	ENST00000367975.2	37	c.241_splice	CCDS1230.1	.	.	.	.	.	.	.	.	.	.	g	17.03	3.283820	0.59867	.	.	ENSG00000143252	ENST00000367975;ENST00000432287;ENST00000392169	D;D;D	0.97553	-4.43;-4.43;-4.43	5.24	3.33	0.38152	.	0.168642	0.49916	N	0.000122	D	0.98476	0.9492	H	0.96633	3.855	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.981;0.991;0.989	D	0.98720	1.0708	8	.	.	.	.	8.1583	0.31183	0.0837:0.0:0.7587:0.1576	.	28;47;81	Q99643-5;Q99643-3;Q99643	.;.;C560_HUMAN	E	81;47;28	ENSP00000356953:G81E;ENSP00000390558:G47E;ENSP00000376009:G28E	.	G	+	2	0	SDHC	159593091	1.000000	0.71417	0.590000	0.28732	0.977000	0.68977	5.050000	0.64251	0.672000	0.31204	0.639000	0.83563	GGG		0.468	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083316.2	NM_003001	Missense_Mutation	59	139	0	0	0	0.870114	0	59	139				
PCDHB3	56132	broad.mit.edu	37	5	140482022	140482022	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:140482022G>T	ENST00000231130.2	+	1	1789	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGACTCGGGCCAGAACGC	0.721																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1789-1791)Ggc>Tgc									10.0	13.0	12.0					5																	140482022		1584	3298	4882	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482022G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1789G>T	5.37:g.140482022G>T	ENSP00000231130:p.Gly597Cys						p.G597C	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1789	+			597			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1789G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198798	0.79015	.	.	ENSG00000113205	ENST00000231130	T	0.28666	1.6	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74574	0.3734	H	0.99764	4.76	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	D	0.87707	0.2564	9	0.87932	D	0	.	16.3117	0.82873	0.0:0.0:1.0:0.0	.	597	Q9Y5E6	PCDB3_HUMAN	C	597	ENSP00000231130:G597C	ENSP00000231130:G597C	G	+	1	0	PCDHB3	140462206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.071000	0.93980	1.993000	0.58246	0.556000	0.70494	GGC		0.721	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		34	131	1	0	1.61572e-30	0.853193	1.90745e-30	34	131				
CNOT6L	246175	broad.mit.edu	37	4	78641727	78641727	+	Missense_Mutation	SNP	G	G	A	rs377549782		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr4:78641727G>A	ENST00000504123.1	-	12	1656	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	509	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAGCCATTGAGGATCTAAAGG	0.468																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(1525-1527)cCt>cTt		CCR4-NOT transcription complex, subunit 6-like							133.0	128.0	130.0					4																	78641727		1907	4123	6030	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78641727G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1526C>T	4.37:g.78641727G>A	ENSP00000424896:p.Pro509Leu					CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L	p.P509L			Q96LI5	CNO6L_HUMAN			12	1656	-			509					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.1526C>T		.	.	.	.	.	.	.	.	.	.	G	12.97	2.098156	0.37048	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485	T;T;T	0.80393	-1.37;-1.37;-1.37	5.95	5.95	0.96441	Endonuclease/exonuclease/phosphatase (2);	0.302135	0.30320	U	0.009895	T	0.78253	0.4254	L	0.45352	1.415	0.80722	D	1	B	0.22604	0.072	B	0.26310	0.068	T	0.71137	-0.4680	10	0.37606	T	0.19	-2.9554	20.3921	0.98947	0.0:0.0:1.0:0.0	.	509	Q96LI5	CNO6L_HUMAN	L	509;509;516	ENSP00000424896:P509L;ENSP00000264903:P509L;ENSP00000425571:P516L	ENSP00000264903:P509L	P	-	2	0	CNOT6L	78860751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.822000	0.97130	0.650000	0.86243	CCT		0.468	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			107	168	0	0	0	0.870114	0	107	168				
HSPA1L	3305	broad.mit.edu	37	6	31778497	31778497	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr6:31778497C>T	ENST00000375654.4	-	2	1442	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R418H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	418					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGGAGTTGCGCTTTATCAG	0.602																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1252-1254)cGc>cAc		heat shock 70kDa protein 1-like							100.0	95.0	97.0					6																	31778497		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31778497C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1253G>A	6.37:g.31778497C>T	ENSP00000364805:p.Arg418His					HSPA1L_ENST00000417199.3_Missense_Mutation_p.R418H	p.R418H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1442	-			418					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1253G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270208	0.40194	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.05925	3.37;3.37	5.2	4.34	0.51931	.	0.000000	0.35291	N	0.003311	T	0.33000	0.0848	H	0.99746	4.745	0.58432	D	0.999998	D	0.65815	0.995	D	0.66716	0.946	T	0.59440	-0.7454	10	0.87932	D	0	-8.8479	11.5243	0.50571	0.0:0.9137:0.0:0.0863	.	418	P34931	HS71L_HUMAN	H	418;418;363	ENSP00000364805:R418H;ENSP00000387691:R418H	ENSP00000364804:R363H	R	-	2	0	HSPA1L	31886476	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.899000	0.69846	1.432000	0.47375	-0.237000	0.12165	CGC		0.602	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			37	154	0	0	0	0.827153	0	37	154				
ARNT	405	broad.mit.edu	37	1	150789283	150789283	+	Missense_Mutation	SNP	G	G	A	rs587670365		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:150789283G>A	ENST00000358595.5	-	18	1983	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	ARNT_ENST00000505755.1_Missense_Mutation_p.R580W|ARNT_ENST00000515192.1_Missense_Mutation_p.R581W|ARNT_ENST00000354396.2_Missense_Mutation_p.R595W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	595					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCCGGCCGGGGGGTAGGA	0.527			T	ETV6	AML								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17516	0.0		0.0	False		,,,				2504	0.0					ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1783-1785)Cgg>Tgg		aryl hydrocarbon receptor nuclear translocator							83.0	83.0	83.0					1																	150789283		2203	4300	6503	SO:0001583	missense	0				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150789283G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1783C>T	1.37:g.150789283G>A	ENSP00000351407:p.Arg595Trp					ARNT_ENST00000354396.2_Missense_Mutation_p.R595W|ARNT_ENST00000515192.1_Missense_Mutation_p.R581W|ARNT_ENST00000505755.1_Missense_Mutation_p.R580W	p.R595W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		18	1983	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		595					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1783C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467136	0.63625	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.66	3.59	0.41128	.	0.552842	0.17871	N	0.159184	T	0.54367	0.1854	M	0.66939	2.045	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.978;0.978;0.978;0.999	T	0.60367	-0.7277	10	0.54805	T	0.06	.	16.2553	0.82515	0.0:0.0:0.7469:0.2531	.	580;595;581;580;595	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	W	595;595;581;547;580	ENSP00000351407:R595W;ENSP00000346372:R595W;ENSP00000423851:R581W;ENSP00000427571:R580W	ENSP00000346372:R595W	R	-	1	2	ARNT	149055907	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.978000	0.49305	1.400000	0.46741	0.655000	0.94253	CGG		0.527	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			52	95	0	0	0	0.870114	0	52	95				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	23	0	0	0	0.184627	0	4	23				
PIK3CG	5294	broad.mit.edu	37	7	106509435	106509435	+	Missense_Mutation	SNP	C	C	T	rs138344795	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr7:106509435C>T	ENST00000359195.3	+	2	1739	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R477C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R477C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	477	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCTGCGCCGTGGAGAATA	0.517													C|||	4	0.000798722	0.003	0.0	5008	,	,		20995	0.0		0.0	False		,,,				2504	0.0					ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1429-1431)Cgt>Tgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma		C	CYS/ARG	14,4392	21.2+/-45.6	0,14,2189	121.0	114.0	116.0		1429	6.0	1.0	7	dbSNP_134	116	0,8600		0,0,4300	yes	missense	PIK3CG	NM_002649.2	180	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	possibly-damaging	477/1103	106509435	14,12992	2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509435C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1429C>T	7.37:g.106509435C>T	ENSP00000352121:p.Arg477Cys					PIK3CG_ENST00000440650.2_Missense_Mutation_p.R477C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R477C	p.R477C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1739	+			477					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1429C>T	CCDS5739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.61	2.884183	0.51908	0.003177	0.0	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.76839	-1.05;-1.05;-1.05	6.02	6.02	0.97574	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.298166	0.42294	D	0.000740	T	0.74876	0.3774	N	0.22421	0.69	0.41912	D	0.990474	P	0.38300	0.626	P	0.49140	0.601	T	0.71656	-0.4527	10	0.28530	T	0.3	-16.6567	15.1526	0.72713	0.1738:0.8262:0.0:0.0	.	477	P48736	PK3CG_HUMAN	C	477	ENSP00000392258:R477C;ENSP00000419260:R477C;ENSP00000352121:R477C	ENSP00000352121:R477C	R	+	1	0	PIK3CG	106296671	0.991000	0.36638	0.980000	0.43619	0.988000	0.76386	5.051000	0.64257	2.865000	0.98341	0.655000	0.94253	CGT		0.517	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			69	110	0	0	0	0.870114	0	69	110				
MUC21	394263	broad.mit.edu	37	6	30954639	30954639	+	Missense_Mutation	SNP	G	G	C	rs143061416	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr6:30954639G>C	ENST00000376296.3	+	2	928	c.687G>C	c.(685-687)gaG>gaC	p.E229D	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	229	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCAACTCTGAGTCCAGCACGA	0.627													G|||	37	0.00738818	0.0053	0.0086	5008	,	,		21976	0.0089		0.0139	False		,,,				2504	0.001					ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(685-687)gaG>gaC		mucin 21, cell surface associated							146.0	147.0	147.0					6																	30954639		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954639G>C	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.687G>C	6.37:g.30954639G>C	ENSP00000365473:p.Glu229Asp					MUC21_ENST00000486149.2_5'UTR	p.E229D	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	928	+			229			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.687G>C	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	G	4.905	0.168273	0.09339	.	.	ENSG00000204544	ENST00000376296	T	0.01963	4.53	4.18	-4.53	0.03462	.	.	.	.	.	T	0.00412	0.0013	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.46596	-0.9180	8	.	.	.	.	2.225	0.03981	0.2155:0.2798:0.368:0.1367	.	229	Q5SSG8	MUC21_HUMAN	D	229	ENSP00000365473:E229D	.	E	+	3	2	MUC21	31062618	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.081000	0.03403	-0.564000	0.06070	-2.448000	0.00209	GAG		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		5	466	0	0	0	0.479597	0	5	466				
EVL	51466	broad.mit.edu	37	14	100613165	100613165	+	IGR	SNP	A	A	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr14:100613165A>G	ENST00000402714.2	+	0	2353				DEGS2_ENST00000305631.5_Missense_Mutation_p.F302S|DEGS2_ENST00000553834.1_Silent_p.V54V|DEGS2_ENST00000557117.1_5'Flank			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGAGTCCTCAAACACAAAATC	0.632																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(904-906)tTt>tCt		delta(4)-desaturase, sphingolipid 2							130.0	121.0	124.0					14																	100613165		2203	4300	6503	SO:0001628	intergenic_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100613165A>G	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530		14.37:g.100613165A>G						DEGS2_ENST00000553834.1_Silent_p.V54V	p.F302S	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			3	1480	-		Melanoma(154;0.212)	302					A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.905T>C		.	.	.	.	.	.	.	.	.	.	A	18.26	3.585083	0.66105	.	.	ENSG00000168350	ENST00000305631	T	0.32515	1.45	4.86	3.69	0.42338	.	0.099712	0.64402	D	0.000001	T	0.59514	0.2199	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64279	-0.6445	10	0.66056	D	0.02	-21.6428	10.6255	0.45506	0.9228:0.0:0.0772:0.0	.	302	Q6QHC5	DEGS2_HUMAN	S	302	ENSP00000307126:F302S	ENSP00000307126:F302S	F	-	2	0	DEGS2	99682918	0.993000	0.37304	0.966000	0.40874	0.993000	0.82548	7.379000	0.79691	0.689000	0.31550	0.459000	0.35465	TTT		0.632	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1			59	108	0	0	0	0.870114	0	59	108				
VCPIP1	80124	broad.mit.edu	37	8	67578649	67578649	+	Missense_Mutation	SNP	T	T	C	rs147256539		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr8:67578649T>C	ENST00000310421.4	-	1	803	c.545A>G	c.(544-546)aAg>aGg	p.K182R	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	182					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCGGTCCTTGCCATAGCC	0.547																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(544-546)aAg>aGg		valosin containing protein (p97)/p47 complex interacting protein 1		T	ARG/LYS	0,4406		0,0,2203	129.0	124.0	126.0		545	6.0	1.0	8	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	VCPIP1	NM_025054.4	26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	182/1223	67578649	1,13005	2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578649T>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.545A>G	8.37:g.67578649T>C	ENSP00000309031:p.Lys182Arg						p.K182R	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	803	-		Lung NSC(129;0.142)|all_lung(136;0.227)	182					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.545A>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	8.558	0.877171	0.17395	0.0	1.16E-4	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.96	5.96	0.96718	.	0.104266	0.64402	D	0.000003	T	0.20536	0.0494	N	0.05230	-0.09	0.43304	D	0.995302	B	0.12630	0.006	B	0.12837	0.008	T	0.11665	-1.0578	10	0.16420	T	0.52	-14.0137	16.4484	0.83959	0.0:0.0:0.0:1.0	.	182	Q96JH7	VCIP1_HUMAN	R	182	ENSP00000309031:K182R	ENSP00000309031:K182R	K	-	2	0	VCPIP1	67741203	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.828000	0.48120	2.285000	0.76669	0.533000	0.62120	AAG		0.547	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			91	132	0	0	0	0.870114	0	91	132				
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642																																						ENST00000376296.3																			1	Substitution - Missense(1)	p.S358N(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1072-1074)aGc>aAc		mucin 21, cell surface associated							135.0	134.0	135.0					6																	30955025		2202	4298	6500	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955025G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1073G>A	6.37:g.30955025G>A	ENSP00000365473:p.Ser358Asn					MUC21_ENST00000486149.2_5'UTR	p.S358N	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1314	+			358			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1073G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.638585	0.29157	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02863	4.13	4.44	1.37	0.22104	.	.	.	.	.	T	0.00724	0.0024	N	0.17082	0.46	0.09310	N	1	B	0.27498	0.18	B	0.29176	0.099	T	0.47509	-0.9112	9	0.36615	T	0.2	-6.2264	7.3385	0.26623	0.0985:0.4534:0.448:0.0	rs55763085	358	Q5SSG8	MUC21_HUMAN	N	208;358	ENSP00000365473:S358N	ENSP00000365473:S358N	S	+	2	0	MUC21	31063004	0.000000	0.05858	0.067000	0.19924	0.130000	0.20726	-0.612000	0.05616	0.590000	0.29694	-0.192000	0.12808	AGC		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		4	133	0	0	0	0.457914	0	4	133				
HFM1	164045	broad.mit.edu	37	1	91818698	91818698	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:91818698C>G	ENST00000370425.3	-	15	1839	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'Flank	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	581	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGCACCATCTTTTAAGATA	0.313																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1741-1743)Gat>Cat		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							87.0	80.0	82.0					1																	91818698		1809	4074	5883	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91818698C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1741G>C	1.37:g.91818698C>G	ENSP00000359454:p.Asp581His					HFM1_ENST00000370424.3_Missense_Mutation_p.D260H|HFM1_ENST00000294696.5_5'UTR	p.D581H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	15	1839	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	581			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1741G>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	1.954	-0.440583	0.04636	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;T	0.70749	-0.51;0.91	5.93	-4.91	0.03085	Helicase, C-terminal (2);	2.179560	0.04743	N	0.423110	T	0.18215	0.0437	N	0.01424	-0.875	0.29570	N	0.850002	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.01711	-1.1290	10	0.16896	T	0.51	.	11.8675	0.52501	0.7716:0.1218:0.1066:0.0	.	260;581	A6NGI5;A2PYH4	.;HFM1_HUMAN	H	581;260;265;614	ENSP00000359454:D581H;ENSP00000359453:D260H	ENSP00000359450:D265H	D	-	1	0	HFM1	91591286	0.007000	0.16637	0.531000	0.27976	0.281000	0.26958	0.175000	0.16762	-0.682000	0.05197	-0.211000	0.12701	GAT		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		22	71	0	0	0	0.654019	0	22	71				
UNC13C	440279	broad.mit.edu	37	15	54306249	54306249	+	Silent	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr15:54306249C>G	ENST00000260323.11	+	1	1149	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	UNC13C_ENST00000545554.1_Silent_p.T383T|UNC13C_ENST00000537900.1_Silent_p.T383T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	383					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTTGAAACCCCTCAACAAA	0.388																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(1147-1149)acC>acG		unc-13 homolog C (C. elegans)							73.0	69.0	70.0					15																	54306249		1830	4088	5918	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306249C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1149C>G	15.37:g.54306249C>G						UNC13C_ENST00000537900.1_Silent_p.T383T|UNC13C_ENST00000260323.11_Silent_p.T383T	p.T383T			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1149	+			383					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.1149C>G	CCDS45264.1																																																																																				0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	89	0	0	0	0.435327	0	14	89				
HTR2C	3358	broad.mit.edu	37	X	113965913	113965913	+	Silent	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chrX:113965913G>A	ENST00000276198.1	+	4	974	c.246G>A	c.(244-246)aaG>aaA	p.K82K	HTR2C_ENST00000371951.1_Silent_p.K82K|HTR2C_ENST00000371950.3_Silent_p.K82K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	82					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCATGGAAAAGAAACTGCACA	0.448																																						ENST00000276198.1																			1	Substitution - Missense(1)	p.K82N(1)	lung(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(244-246)aaG>aaA		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						227.0	172.0	190.0					X																	113965913		2203	4300	6503	SO:0001819	synonymous_variant	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965913G>A		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.246G>A	X.37:g.113965913G>A						HTR2C_ENST00000371950.3_Silent_p.K82K|HTR2C_ENST00000371951.1_Silent_p.K82K	p.K82K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	974	+			82					B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	ENST00000276198.1	37	c.246G>A	CCDS14564.1																																																																																				0.448	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		36	68	0	0	0	0.788014	0	36	68				
SUSD4	55061	broad.mit.edu	37	1	223396921	223396921	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:223396921C>T	ENST00000343846.3	-	7	1747	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	SUSD4_ENST00000494793.2_Missense_Mutation_p.V372M|SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000484758.2_Missense_Mutation_p.V303M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	372						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGACGGGCACGCCGTCTACC	0.617																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(1114-1116)Gtg>Atg		sushi domain containing 4							28.0	34.0	32.0					1																	223396921		2191	4279	6470	SO:0001583	missense	55061					integral to membrane		g.chr1:223396921C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1114G>A	1.37:g.223396921C>T	ENSP00000344219:p.Val372Met					SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M	p.V372M			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	7	1747	-			372					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.1114G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889978	0.91889	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.39997	1.05;1.05;1.14	5.16	5.16	0.70880	.	0.311014	0.23129	N	0.051613	T	0.65196	0.2668	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68375	-0.5425	10	0.87932	D	0	-19.3898	18.6628	0.91477	0.0:1.0:0.0:0.0	.	372	Q5VX71	SUSD4_HUMAN	M	372;372;303;212	ENSP00000344219:V372M;ENSP00000355843:V372M;ENSP00000399288:V212M	ENSP00000344219:V372M	V	-	1	0	SUSD4	221463544	0.997000	0.39634	0.984000	0.44739	0.972000	0.66771	3.661000	0.54503	2.405000	0.81733	0.655000	0.94253	GTG		0.617	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		12	29	0	0	0	0.411799	0	12	29				
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020716	33020716	+	RNA	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr16:33020716C>G	ENST00000565407.2	+	0	124				RP11-19N8.2_ENST00000567619.1_RNA					immunoglobulin heavy variable 3/OR16-8 (non-functional)																		ACTGTCCTGTCCAGCCTCTGG	0.582																																						ENST00000565407.2																			0																				155.0	134.0	141.0					16																	33020716		1892	4114	6006			0							g.chr16:33020716C>G	Z29605		16p11.2	2013-05-22	2008-09-11		ENSG00000271130	ENSG00000271130		"""Immunoglobulins / IGH orphons"""	5643	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-8"""				Standard			Approved	IGHV3/OR16-8			OTTHUMG00000176449		16.37:g.33020716C>G						RP11-19N8.2_ENST00000567619.1_RNA								0	124	+									RNA	SNP	ENST00000565407.2	37																																																																																						0.582	IGHV3OR16-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432095.2			10	413	0	0	0	0.500413	0	10	413				
CYP2C8	1558	broad.mit.edu	37	10	96827286	96827286	+	Splice_Site	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr10:96827286C>A	ENST00000371270.3	-	2	425	c.331G>T	c.(331-333)Gga>Tga	p.G111*	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	111					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GTGCACCTACCAAGTCCTTTA	0.448																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.e2+1		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						111.0	109.0	110.0					10																	96827286		2203	4300	6503	SO:0001630	splice_region_variant	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827286C>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.331+1G>T	10.37:g.96827286C>A						CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	p.G111_splice	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	425	-		Colorectal(252;0.0397)	111					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Splice_Site	SNP	ENST00000371270.3	37	c.331_splice	CCDS7438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598566|3.598566	0.66332|0.66332	.|.	.|.	ENSG00000138115|ENSG00000138115	ENST00000371270|ENST00000535868	.|.	.|.	.|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	.|T	.|0.66228	.|0.2768	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61227	.|-0.7105	.|5	0.87932|0.22109	D|T	0|0.4	.|.	16.2015|16.2015	0.82084|0.82084	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	111|21	.|.	ENSP00000360317:G111X|ENSP00000437600:L21F	G|L	-|-	1|3	0|2	CYP2C8|CYP2C8	96817276|96817276	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.069000|0.069000	0.16628|0.16628	6.258000|6.258000	0.72487|0.72487	2.419000|2.419000	0.82065|0.82065	0.555000|0.555000	0.69702|0.69702	GGA|TTG		0.448	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	Nonsense_Mutation	21	173	1	0	1.50039e-11	0.608945	1.63504e-11	21	173				
SUSD1	64420	broad.mit.edu	37	9	114840902	114840902	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr9:114840902G>A	ENST00000374270.3	-	12	1841	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	SUSD1_ENST00000374264.2_Missense_Mutation_p.R557C|SUSD1_ENST00000374263.3_Missense_Mutation_p.R557C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	557						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTACCCGGACGTAGGTCCAAG	0.498																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1669-1671)Cgt>Tgt		sushi domain containing 1							150.0	144.0	146.0					9																	114840902		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114840902G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1669C>T	9.37:g.114840902G>A	ENSP00000363388:p.Arg557Cys					SUSD1_ENST00000374263.3_Missense_Mutation_p.R557C|SUSD1_ENST00000374264.2_Missense_Mutation_p.R557C	p.R557C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			12	1841	-			557					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1669C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.307|3.307	-0.141695|-0.141695	0.06669|0.06669	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	4.96|4.96	0.765|0.765	0.18470|0.18470	.|.	2.196340|.	0.01674|.	N|.	0.025758|.	T|T	0.13670|0.13670	0.0331|0.0331	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.004;0.003|.	B;B;B|.	0.06405|.	0.002;0.001;0.0|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.38643|.	T|.	0.18|.	0.8854|0.8854	4.6038|4.6038	0.12366|0.12366	0.1775:0.0:0.5:0.3226|0.1775:0.0:0.5:0.3226	.|.	557;557;557|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	C|M	557|540	ENSP00000363388:R557C;ENSP00000363381:R557C;ENSP00000363382:R557C|.	ENSP00000363381:R557C|.	R|T	-|-	1|2	0|0	SUSD1|SUSD1	113880723|113880723	0.045000|0.045000	0.20229|0.20229	0.064000|0.064000	0.19789|0.19789	0.036000|0.036000	0.12997|0.12997	0.642000|0.642000	0.24735|0.24735	0.180000|0.180000	0.19960|0.19960	0.645000|0.645000	0.84053|0.84053	CGT|ACG		0.498	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		51	143	0	0	0	0.870114	0	51	143				
PCLO	27445	broad.mit.edu	37	7	82784471	82784471	+	Missense_Mutation	SNP	A	A	G	rs199515717		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr7:82784471A>G	ENST00000333891.9	-	2	1823	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P	PCLO_ENST00000423517.2_Missense_Mutation_p.S496P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S496P(6)|p.?(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTTTGCTGAGCCAGGCTGT	0.607																																						ENST00000423517.2																			9	Substitution - Missense(6)|Unknown(3)	p.S496P(6)|p.?(3)	kidney(6)|prostate(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1486-1488)Tca>Cca		piccolo presynaptic cytomatrix protein		A	PRO/SER,PRO/SER	0,3888		0,0,1944	89.0	98.0	95.0		1486,1486	-0.1	0.0	7		95	1,8267		0,1,4133	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	74,74	0,1,6077	GG,GA,AA		0.0121,0.0,0.0082	benign,benign	496/4936,496/5143	82784471	1,12155	1944	4134	6078	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784471A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1486T>C	7.37:g.82784471A>G	ENSP00000334319:p.Ser496Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.S496P	p.S496P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1823	-			442			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1486T>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	0.210	-1.037056	0.02013	0.0	1.21E-4	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.44	4.64	-0.0778	0.13717	.	.	.	.	.	T	0.04679	0.0127	N	0.00538	-1.39	0.22066	N	0.999381	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	9	0.87932	D	0	.	7.1447	0.25577	0.2775:0.116:0.6065:0.0	.	496;496	Q9Y6V0-5;Q9Y6V0-6	.;.	P	496	ENSP00000334319:S496P;ENSP00000388393:S496P	ENSP00000334319:S496P	S	-	1	0	PCLO	82622407	0.659000	0.27411	0.005000	0.12908	0.207000	0.24258	2.928000	0.48908	0.094000	0.17404	-0.379000	0.06801	TCA		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	285	0	0	0	0.500413	0	10	285				
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	RNA	SNP	C	C	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr9:141070915C>T	ENST00000503395.1	+	0	1690									tubulin, beta pseudogene 5									p.T178T(1)									TGTCAGACACCGTGGTGGAGC	0.522																																						ENST00000503395.1																			1	Substitution - coding silent(1)	p.T178T(1)	prostate(1)																																																0							g.chr9:141070915C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070915C>T														0	1690	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.522	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	244	0	0	0	0.654019	0	5	244				
PKHD1L1	93035	broad.mit.edu	37	8	110420309	110420309	+	Silent	SNP	T	T	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr8:110420309T>A	ENST00000378402.5	+	18	1949	c.1845T>A	c.(1843-1845)gtT>gtA	p.V615V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGAAGTAGTTGAAGGGAATA	0.348										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1843-1845)gtT>gtA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							91.0	89.0	89.0					8																	110420309		1852	4092	5944	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420309T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1845T>A	8.37:g.110420309T>A		HNSCC(38;0.096)					p.V615V	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	1949	+			615					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.1845T>A	CCDS47911.1																																																																																				0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		35	44	0	0	0	0.819951	0	35	44				
CAMK1G	57172	broad.mit.edu	37	1	209781259	209781259	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:209781259G>A	ENST00000009105.1	+	7	861	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.G206S			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGGTCCATCGGCGTCATCAC	0.582																																					Ovarian(163;530 1939 9680 28669 48710)	ENST00000009105.1																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(616-618)Ggc>Agc		calcium/calmodulin-dependent protein kinase IG							126.0	115.0	119.0					1																	209781259		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209781259G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.616G>A	1.37:g.209781259G>A	ENSP00000009105:p.Gly206Ser					CAMK1G_ENST00000361322.2_Missense_Mutation_p.G206S|CAMK1G_ENST00000494990.1_3'UTR	p.G206S			Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	7	861	+			206			Protein kinase.		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.616G>A	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	G	34	5.330083	0.95733	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	D;D	0.82081	-1.57;-1.57	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000041	D	0.95236	0.8455	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96834	0.9613	10	0.87932	D	0	.	19.6569	0.95845	0.0:0.0:1.0:0.0	.	206;206	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	S	206	ENSP00000009105:G206S;ENSP00000354861:G206S	ENSP00000009105:G206S	G	+	1	0	CAMK1G	207847882	1.000000	0.71417	0.989000	0.46669	0.893000	0.52053	9.507000	0.97996	2.652000	0.90054	0.561000	0.74099	GGC		0.582	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		61	127	0	0	0	0.870114	0	61	127				
HTRA4	203100	broad.mit.edu	37	8	38834065	38834065	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr8:38834065G>A	ENST00000302495.4	+	3	678	c.578G>A	c.(577-579)gGc>gAc	p.G193D		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	193					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTACTTCACGGCAGCAGGCTT	0.473																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(577-579)gGc>gAc		HtrA serine peptidase 4							109.0	102.0	105.0					8																	38834065		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38834065G>A	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.578G>A	8.37:g.38834065G>A	ENSP00000305919:p.Gly193Asp						p.G193D	NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		3	678	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	193					Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.578G>A	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	G	8.610	0.888998	0.17540	.	.	ENSG00000169495	ENST00000302495	D	0.87179	-2.22	5.53	-0.812	0.10853	Peptidase cysteine/serine, trypsin-like (1);	0.719368	0.13455	N	0.386563	T	0.76321	0.3971	L	0.44542	1.39	0.09310	N	1	P	0.39022	0.655	B	0.29353	0.101	T	0.62784	-0.6781	10	0.40728	T	0.16	-11.1514	7.7402	0.28837	0.2166:0.486:0.2974:0.0	.	193	P83105	HTRA4_HUMAN	D	193	ENSP00000305919:G193D	ENSP00000305919:G193D	G	+	2	0	HTRA4	38953222	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.793000	0.26944	-0.491000	0.06697	0.555000	0.69702	GGC		0.473	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		29	24	0	0	0	0.740014	0	29	24				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	53	0	0	0	0.248553	0	6	53				
MEGF8	1954	broad.mit.edu	37	19	42865114	42865114	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr19:42865114C>G	ENST00000251268.6	+	32	5676	c.5676C>G	c.(5674-5676)tgC>tgG	p.C1892W	MEGF8_ENST00000334370.4_Missense_Mutation_p.C1825W	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1892	PSI 4.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGGGCCTGCACCTGGTGCC	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5473-5475)tgC>tgG		multiple EGF-like-domains 8							36.0	40.0	39.0					19																	42865114		2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42865114C>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5676C>G	19.37:g.42865114C>G	ENSP00000251268:p.Cys1892Trp					MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W	p.C1825W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			31	6110	+		Prostate(69;0.00682)	1892					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5475C>G		.	.	.	.	.	.	.	.	.	.	C	18.34	3.603144	0.66445	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66099	-0.19;-0.19	5.54	3.4	0.38934	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.61912	-0.6965	10	0.87932	D	0	-21.6471	8.0726	0.30697	0.0:0.7405:0.0:0.2595	.	1892;1825	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	W	1825;1892	ENSP00000334219:C1825W;ENSP00000251268:C1892W	ENSP00000251268:C1892W	C	+	3	2	MEGF8	47556954	0.417000	0.25432	0.998000	0.56505	0.981000	0.71138	0.477000	0.22196	0.681000	0.31386	0.655000	0.94253	TGC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		39	67	0	0	0	0.840704	0	39	67				
MEF2A	4205	broad.mit.edu	37	15	100230590	100230590	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr15:100230590G>A	ENST00000557785.1	+	8	1164	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	MEF2A_ENST00000558812.1_Missense_Mutation_p.R204Q|MEF2A_ENST00000354410.5_Missense_Mutation_p.R274Q|MEF2A_ENST00000449277.2_Missense_Mutation_p.R204Q|MEF2A_ENST00000557942.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000338042.6_Missense_Mutation_p.R272Q|MEF2A_ENST00000453228.2_Missense_Mutation_p.R272Q	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	274	Required for interaction with MAPKs.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CCAGATCTTCGAGTTGTCATC	0.433																																						ENST00000354410.5																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(820-822)cGa>cAa		myocyte enhancer factor 2A							61.0	59.0	60.0					15																	100230590		1901	4118	6019	SO:0001583	missense	0				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100230590G>A		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.815G>A	15.37:g.100230590G>A	ENSP00000453441:p.Arg272Gln					MEF2A_ENST00000558812.1_Missense_Mutation_p.R204Q|MEF2A_ENST00000557785.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000557942.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000449277.2_Missense_Mutation_p.R204Q|MEF2A_ENST00000338042.6_Missense_Mutation_p.R272Q|MEF2A_ENST00000453228.2_Missense_Mutation_p.R272Q	p.R274Q	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		8	1450	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		274			Required for interaction with MAPKs.		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.821G>A	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	36	5.768549	0.96914	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.78456	2.415	0.45806	D	0.998682	D;D;D;D;D;D	0.89917	0.998;0.998;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.992;0.99;0.974;0.996;0.997;0.988	T	0.66582	-0.5887	10	0.87932	D	0	-15.2928	20.1589	0.98128	0.0:0.0:1.0:0.0	.	274;204;193;272;274;272	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	Q	272;274;272;204	ENSP00000404110:R272Q;ENSP00000346389:R274Q;ENSP00000337202:R272Q;ENSP00000399460:R204Q	ENSP00000337202:R272Q	R	+	2	0	MEF2A	98048113	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.647000	0.83462	2.769000	0.95229	0.650000	0.86243	CGA		0.433	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			22	25	0	0	0	0.667858	0	22	25				
TTN	7273	broad.mit.edu	37	2	179593776	179593776	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr2:179593776T>C	ENST00000591111.1	-	63	18262	c.18038A>G	c.(18037-18039)cAg>cGg	p.Q6013R	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q6330R|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12804	Ig-like 41.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAGAATCTGATCATCCTT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18988-18990)cAg>cGg		titin							61.0	58.0	59.0					2																	179593776		1846	4085	5931	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593776T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18038A>G	2.37:g.179593776T>C	ENSP00000465570:p.Gln6013Arg					TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R	p.Q6330R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		65	19213	-			6013			Ig-like 44.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18989A>G		.	.	.	.	.	.	.	.	.	.	T	9.517	1.107167	0.20714	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51092	0.1654	N	0.16656	0.425	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50668	-0.8801	9	0.87932	D	0	.	11.4261	0.50012	0.0:0.0694:0.0:0.9305	.	6013	Q8WZ42	TITIN_HUMAN	R	5086	ENSP00000343764:Q5086R	ENSP00000343764:Q5086R	Q	-	2	0	TTN	179302021	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.101000	0.50283	2.281000	0.76405	0.533000	0.62120	CAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	37	0	0	0	0.539581	0	19	37				
ERMARD	55780	broad.mit.edu	37	6	170175420	170175420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr6:170175420G>T	ENST00000366773.3	+	14	1405	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	ERMARD_ENST00000366772.2_Nonsense_Mutation_p.E458*|ERMARD_ENST00000588451.1_Nonsense_Mutation_p.E322*|ERMARD_ENST00000392095.4_Nonsense_Mutation_p.E332*|ERMARD_ENST00000418781.3_Nonsense_Mutation_p.E458*	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	458					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TTTCCCCGAAGAACTCACTCG	0.502																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(964-966)Gaa>Taa									76.0	67.0	70.0					6																	170175420		2203	4300	6503	SO:0001587	stop_gained	0					integral to membrane		g.chr6:170175420G>T	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1372G>T	6.37:g.170175420G>T	ENSP00000355735:p.Glu458*					C6orf70_ENST00000418781.3_Nonsense_Mutation_p.E458*|C6orf70_ENST00000392095.4_Nonsense_Mutation_p.E332*|C6orf70_ENST00000366773.3_Nonsense_Mutation_p.E458*|C6orf70_ENST00000366772.2_Nonsense_Mutation_p.E458*	p.E322*			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	13	1477	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	458					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Nonsense_Mutation	SNP	ENST00000366773.3	37	c.964G>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	36	5.881756	0.97062	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	.	.	.	4.9	4.9	0.64082	.	0.314611	0.26510	N	0.023979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.6408	0.62249	0.0:0.0:1.0:0.0	.	.	.	.	X	458;458;458;332;106	.	ENSP00000355733:E106X	E	+	1	0	C6orf70	169917345	0.222000	0.23652	0.006000	0.13384	0.011000	0.07611	4.253000	0.58791	2.252000	0.74401	0.461000	0.40582	GAA		0.502	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		16	34	1	0	1.50039e-11	0.608945	1.63504e-11	16	34				
ETNPPL	64850	broad.mit.edu	37	4	109667931	109667931	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr4:109667931G>T	ENST00000296486.3	-	10	1313	c.1159C>A	c.(1159-1161)Cac>Aac	p.H387N	ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	387						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TAGATGATGTGCTGAGCTTCA	0.488																																						ENST00000296486.3																			0											c.(1159-1161)Cac>Aac		ethanolamine-phosphate phospho-lyase							238.0	239.0	239.0					4																	109667931		2203	4300	6503	SO:0001583	missense	64850							g.chr4:109667931G>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1159C>A	4.37:g.109667931G>T	ENSP00000296486:p.His387Asn					ETNPPL_ENST00000411864.2_Missense_Mutation_p.H381N|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H329N|ETNPPL_ENST00000510706.1_Missense_Mutation_p.H347N	p.H387N	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					10	1313	-								B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1159C>A	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353293	0.41700	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.88	4.88	0.63580	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095266	0.64402	D	0.000001	T	0.39172	0.1068	L	0.46157	1.445	0.50632	D	0.999882	B;B;B	0.34103	0.271;0.391;0.437	B;B;B	0.35114	0.096;0.196;0.096	T	0.18681	-1.0329	9	.	.	.	-14.4414	16.5871	0.84730	0.0:0.0:1.0:0.0	.	329;381;387	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	N	387;381;329;347	ENSP00000296486:H387N;ENSP00000392269:H381N;ENSP00000427065:H329N;ENSP00000423240:H347N	.	H	-	1	0	AGXT2L1	109887380	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.130000	0.64745	2.398000	0.81561	0.650000	0.86243	CAC		0.488	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		5	422	1	0	0.184627	0.184627	0.193745	5	422				
PDZD2	23037	broad.mit.edu	37	5	32090268	32090268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:32090268delC	ENST00000438447.1	+	20	7102	c.6714delC	c.(6712-6714)cacfs	p.H2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGAGGGTCACCCCCCACACA	0.637																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6712-6714)cafs		PDZ domain containing 2							153.0	165.0	161.0					5																	32090268		2203	4300	6503	SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090268delC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6714delC	5.37:g.32090268delC	ENSP00000402033:p.His2238fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs	p.H2238fs			O15018	PDZD2_HUMAN			20	7102	+			2238					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.6714delC	CCDS34137.1																																																																																				0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	701						8	701	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123984772	123984772	+	Silent	SNP	C	C	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:123984772C>A	ENST00000306315.5	-	4	1740	c.1305G>T	c.(1303-1305)ggG>ggT	p.G435G	ZNF608_ENST00000504926.1_Silent_p.G8G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	435							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCGCTCTCTTCCCTCTGCCCC	0.572																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1303-1305)ggG>ggT		zinc finger protein 608							29.0	32.0	31.0					5																	123984772		2202	4293	6495	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123984772C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1305G>T	5.37:g.123984772C>A						ZNF608_ENST00000504926.1_Silent_p.G8G	p.G435G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1740	-		all_cancers(142;0.186)|Prostate(80;0.081)	435					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.1305G>T	CCDS34219.1																																																																																				0.572	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		36	75	1	0	4.11147e-13	0.788014	4.65967e-13	36	75				
UNC5A	90249	broad.mit.edu	37	5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(2332-2334)cGg>cAg		unc-5 homolog A (C. elegans)							47.0	58.0	55.0					5																	176306459		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176306459G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.2333G>A	5.37:g.176306459G>A	ENSP00000332737:p.Arg778Gln					UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	p.R778Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	2607	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	778			Death.		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.2333G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170142	0.78452	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	D;D	0.86865	-2.18;-2.18	5.15	3.38	0.38709	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.80037	0.4550	L	0.59436	1.845	0.46701	D	0.999167	P	0.36535	0.557	B	0.22386	0.039	T	0.75068	-0.3448	10	0.30078	T	0.28	-38.2605	10.3637	0.44010	0.1594:0.0:0.8406:0.0	.	778	Q6ZN44	UNC5A_HUMAN	Q	778;738	ENSP00000332737:R778Q;ENSP00000261961:R738Q	ENSP00000261961:R738Q	R	+	2	0	UNC5A	176239065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.612000	0.98347	0.765000	0.33221	0.561000	0.74099	CGG		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		83	142	0	0	0	0.870114	0	83	142				
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			5	9						5	9	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Intron|HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																						ENST00000259951.7																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1177-1182)ttttttfs		major histocompatibility complex, class I, F				16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694802_29694803insT	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	p.FF393fs	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN			7	1235_1236	+			0					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	ENST00000376861.1	37	c.1179_1180insT	CCDS43438.1																																																																																				0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		7	460						7	460	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)agtfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1132-1134)tfs		interferon gamma receptor 1	Interferon gamma-1b(DB00033)																																			SO:0001589	frameshift_variant	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519505_137519506delCT		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1132_1133delAG	6.37:g.137519515_137519516delCT	ENSP00000356713:p.Ser380fs					IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	p.S380fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1253_1254	-	Colorectal(23;0.24)		380					B4DFT7|E1P587|Q53Y96	Frame_Shift_Del	DEL	ENST00000367739.4	37	c.1132_1133delAG	CCDS5185.1																																																																																				0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			7	207						7	207	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149525648	149525652	+	RNA	DEL	ACAAA	ACAAA	-	rs529000161	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr7:149525648_149525652delACAAA	ENST00000378016.2	+	0	14985							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			acaaaacaatacaaaacaaaacaaa	0.502																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149525648_149525652delACAAA	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149525658_149525662delACAAA										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14985	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.502	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
PLGRKT	55848	broad.mit.edu	37	9	5361787	5361787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:5361787delA	ENST00000223864.2	-	4	404	c.183delT	c.(181-183)tttfs	p.F61fs	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	61					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											CTGCAAGGCCAAAAAAAGTTC	0.383																																						ENST00000223864.2																			0											c.(181-183)ttfs		plasminogen receptor, C-terminal lysine transmembrane protein							92.0	90.0	91.0					9																	5361787		2203	4300	6503	SO:0001589	frameshift_variant	55848					integral to membrane		g.chr9:5361787delA	AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.183delT	9.37:g.5361787delA	ENSP00000223864:p.Phe61fs					PLGRKT_ENST00000482696.1_5'UTR	p.F61fs	NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN			4	404	-			61					B2R6W0|Q9NZ44	Frame_Shift_Del	DEL	ENST00000223864.2	37	c.183delT	CCDS6463.1																																																																																				0.383	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051626.1	NM_018465		7	155						7	155	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	23						7	23	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr21:11085940_11085942delCAC	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)		ccaccaccatcaccaccaccacc	0.532																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085940_11085942delCAC	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.11085949_11085951delCAC												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	DEL	ENST00000470054.1	37																																																																																						0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	36007559	36007559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:36007559delT	ENST00000297866.5	+	16	2903	c.2837delT	c.(2836-2838)gttfs	p.V946fs		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	946										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAATGTGTTGCACATGTA	0.363																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2836-2838)gtfs		chromosome X open reading frame 22							158.0	127.0	137.0					X																	36007559		2202	4300	6502	SO:0001589	frameshift_variant	170063							g.chrX:36007559delT	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2837delT	X.37:g.36007559delT	ENSP00000297866:p.Val946fs						p.V946fs	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			16	2903	+			946					Q5JRM8|Q8N6X8	Frame_Shift_Del	DEL	ENST00000297866.5	37	c.2837delT	CCDS14237.2																																																																																				0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		38	14						38	14	---	---	---	---
ALG14	199857	broad.mit.edu	37	1	95538408	95538409	+	Frame_Shift_Ins	INS	-	-	C	rs138237877		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:95538408_95538409insC	ENST00000370205.5	-	1	92_93	c.46_47insG	c.(46-48)gttfs	p.V16fs	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	16					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.V16G(1)		endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		GATTAGGAAAACCGCCACAGCT	0.569																																						ENST00000370205.4																			1	Substitution - Missense(1)	p.V16G(1)	pancreas(1)	endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(46-48)tttfs		ALG14, UDP-N-acetylglucosaminyltransferase subunit																																				SO:0001589	frameshift_variant	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95538408_95538409insC		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"""asparagine-linked glycosylation 14 homolog (yeast)"", ""asparagine-linked glycosylation 14 homolog (S. cerevisiae)"""			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.47dupG	1.37:g.95538410_95538410dupC	ENSP00000359224:p.Val16fs					ALG14_ENST00000495856.1_5'UTR	p.F16fs	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	1	92_93	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	16					A8K030	Frame_Shift_Ins	INS	ENST00000370205.5	37	c.46_47insG	CCDS752.1																																																																																				0.569	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		7	158						7	158	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090268	32090268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:32090268delC	ENST00000438447.1	+	20	7102	c.6714delC	c.(6712-6714)cacfs	p.H2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGAGGGTCACCCCCCACACA	0.637																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6712-6714)cafs		PDZ domain containing 2							153.0	165.0	161.0					5																	32090268		2203	4300	6503	SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090268delC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6714delC	5.37:g.32090268delC	ENSP00000402033:p.His2238fs					PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs	p.H2238fs			O15018	PDZD2_HUMAN			20	7102	+			2238					Q9BXD4	Frame_Shift_Del	DEL	ENST00000438447.1	37	c.6714delC	CCDS34137.1																																																																																				0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	701						8	701	---	---	---	---
JADE2	23338	broad.mit.edu	37	5	133914648	133914649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:133914648_133914649insC	ENST00000282605.4	+	12	2232_2233	c.2146_2147insC	c.(2146-2148)agcfs	p.S716fs	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Frame_Shift_Ins_p.S672fs|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.S673fs																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCCCTGAAAGCCCCCCGCCA	0.649																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(2014-2016)cccfs																																						SO:0001589	frameshift_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914648_133914649insC																												Exception_encountered	5.37:g.133914648_133914649insC	ENSP00000282605:p.Ser716fs					PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Frame_Shift_Ins_p.P716fs|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.P673fs	p.P672fs	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2193_2194	+			672			Pro-rich.			Frame_Shift_Ins	INS	ENST00000282605.4	37	c.2014_2015insC																																																																																					0.649	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			8	271						8	271	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		8	192						8	192	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)agtfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1132-1134)tfs		interferon gamma receptor 1	Interferon gamma-1b(DB00033)																																			SO:0001589	frameshift_variant	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519505_137519506delCT		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1132_1133delAG	6.37:g.137519515_137519516delCT	ENSP00000356713:p.Ser380fs					IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	p.S380fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1253_1254	-	Colorectal(23;0.24)		380					B4DFT7|E1P587|Q53Y96	Frame_Shift_Del	DEL	ENST00000367739.4	37	c.1132_1133delAG	CCDS5185.1																																																																																				0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			7	207						7	207	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149525648	149525652	+	RNA	DEL	ACAAA	ACAAA	-	rs529000161	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr7:149525648_149525652delACAAA	ENST00000378016.2	+	0	14985							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			acaaaacaatacaaaacaaaacaaa	0.502																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149525648_149525652delACAAA	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149525658_149525662delACAAA										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14985	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.502	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)ttcfs	p.F7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.F7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(19-21)tcafs		relaxin 2			,	5,4259		0,5,2127					,	0.2	0.1			64	20,8234		0,20,4107	no	frameshift,frameshift	RLN2	NM_134441.1,NM_005059.2	,	0,25,6234	A1A1,A1R,RR		0.2423,0.1173,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304560_5304561insA		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.21dupT	9.37:g.5304568_5304568dupA	ENSP00000371040:p.Phe7fs					RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs	p.S7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	408_409	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	7					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Frame_Shift_Ins	INS	ENST00000381627.3	37	c.20_21insT	CCDS6460.1																																																																																				0.535	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		7	218						7	218	---	---	---	---
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-	rs138789124		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594																																						ENST00000253008.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.e3+1		PR domain containing 12																																				SO:0001630	splice_region_variant	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133543701_133543702delGT	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.570+1GT>-	9.37:g.133543711_133543712delGT								NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	3	630	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)						A3KFK9	Splice_Site	DEL	ENST00000253008.2	37		CCDS6934.1																																																																																				0.594	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	Intron	8	191						8	191	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr19:38948159_38948160delTG	ENST00000359596.3	+	17	1814_1815	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_ENST00000355481.4_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTATGCTCCCTGTGTGTGTGTA	0.53																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1813-1815)cfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948159_38948160delTG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1814_1815delTG	19.37:g.38948167_38948168delTG	ENSP00000352608:p.Leu605fs					RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs	p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		17	1945_1946	+	all_cancers(60;7.91e-06)		605			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Del	DEL	ENST00000359596.3	37	c.1814_1815delTG	CCDS33011.1																																																																																				0.530	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			8	454						8	454	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	36007559	36007559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chrX:36007559delT	ENST00000297866.5	+	16	2903	c.2837delT	c.(2836-2838)gttfs	p.V946fs		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	946										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAATGTGTTGCACATGTA	0.363																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2836-2838)gtfs		chromosome X open reading frame 22							158.0	127.0	137.0					X																	36007559		2202	4300	6502	SO:0001589	frameshift_variant	170063							g.chrX:36007559delT	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2837delT	X.37:g.36007559delT	ENSP00000297866:p.Val946fs						p.V946fs	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			16	2903	+			946					Q5JRM8|Q8N6X8	Frame_Shift_Del	DEL	ENST00000297866.5	37	c.2837delT	CCDS14237.2																																																																																				0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		38	14						38	14	---	---	---	---
