#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	171	0	0	0	1	0	4	171				
GPR158	57512	broad.mit.edu	37	10	25887455	25887455	+	Missense_Mutation	SNP	C	C	A	rs368773769		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr10:25887455C>A	ENST00000376351.3	+	11	3259	c.2900C>A	c.(2899-2901)cCa>cAa	p.P967Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	967					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCGGAGGAGCCAAGAAAGCCT	0.463																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2899-2901)cCa>cAa		G protein-coupled receptor 158		C	GLN/PRO	0,4406		0,0,2203	76.0	85.0	82.0		2900	3.7	1.0	10		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	76	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	967/1216	25887455	1,13005	2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887455C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2900C>A	10.37:g.25887455C>A	ENSP00000365529:p.Pro967Gln					GPR158_ENST00000490549.1_3'UTR	p.P967Q	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	3259	+			967					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2900C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	2.799	-0.249611	0.05867	0.0	1.16E-4	ENSG00000151025	ENST00000376351	T	0.32988	1.43	5.61	3.72	0.42706	.	0.568131	0.16868	N	0.196260	T	0.25306	0.0615	L	0.43152	1.355	0.09310	N	1	B	0.24823	0.112	B	0.27887	0.084	T	0.16660	-1.0395	10	0.20519	T	0.43	.	10.2063	0.43116	0.0:0.7914:0.0:0.2086	.	967	Q5T848	GP158_HUMAN	Q	967	ENSP00000365529:P967Q	ENSP00000365529:P967Q	P	+	2	0	GPR158	25927461	0.951000	0.32395	0.979000	0.43373	0.859000	0.49053	1.533000	0.36040	1.333000	0.45449	0.650000	0.86243	CCA		0.463	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		47	88	1	0	5.34276e-22	1	5.63957e-22	47	88				
KIF6	221458	broad.mit.edu	37	6	39507801	39507801	+	Silent	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr6:39507801G>A	ENST00000287152.7	-	13	1717	c.1623C>T	c.(1621-1623)tcC>tcT	p.S541S	KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373213.4_Silent_p.S380S|KIF6_ENST00000373215.3_Silent_p.S541S|KIF6_ENST00000373216.3_Silent_p.S541S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	541					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGAGCAAACTGGATCTTTTCC	0.448																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1621-1623)tcC>tcT		kinesin family member 6							186.0	195.0	192.0					6																	39507801		2203	4300	6503	SO:0001819	synonymous_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507801G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1623C>T	6.37:g.39507801G>A						KIF6_ENST00000373213.4_Silent_p.S380S|KIF6_ENST00000373215.3_Silent_p.S541S|KIF6_ENST00000373216.3_Silent_p.S541S|KIF6_ENST00000538893.1_Intron	p.S541S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			13	1717	-			541					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1623C>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	2.955	-0.215802	0.06101	.	.	ENSG00000164627	ENST00000458470	.	.	.	6.04	4.05	0.47172	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43686	-0.9376	4	.	.	.	.	6.0312	0.19681	0.2474:0.0:0.7526:0.0	.	.	.	.	L	433	.	.	P	-	2	0	KIF6	39615779	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	3.141000	0.50593	1.573000	0.49748	0.563000	0.77884	CCA		0.448	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		46	89	0	0	0	1	0	46	89				
DNAH3	55567	broad.mit.edu	37	16	20975444	20975444	+	Silent	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr16:20975444C>T	ENST00000261383.3	-	53	9761	c.9762G>A	c.(9760-9762)ctG>ctA	p.L3254L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3254	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTCATCCTCCAGGATGTTAC	0.438																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9760-9762)ctG>ctA		dynein, axonemal, heavy chain 3							143.0	135.0	138.0					16																	20975444		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975444C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9762G>A	16.37:g.20975444C>T						DNAH3_ENST00000415178.1_3'UTR	p.L3254L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9761	-			3254			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9762G>A	CCDS10594.1																																																																																				0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		75	96	0	0	0	1	0	75	96				
RP1L1	94137	broad.mit.edu	37	8	10465053	10465053	+	Silent	SNP	T	T	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr8:10465053T>A	ENST00000382483.3	-	4	6778	c.6555A>T	c.(6553-6555)gcA>gcT	p.A2185A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2265	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCCCCTTCTGCCTCTGGGG	0.607																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6553-6555)gcA>gcT		retinitis pigmentosa 1-like 1							167.0	180.0	176.0					8																	10465053		1870	4104	5974	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10465053T>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6555A>T	8.37:g.10465053T>A							p.A2185A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6778	-			2185					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.6555A>T	CCDS43708.1																																																																																				0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			4	128	0	0	0	1	0	4	128				
RUNX1T1	862	broad.mit.edu	37	8	93017508	93017508	+	Silent	SNP	C	C	G			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr8:93017508C>G	ENST00000523629.1	-	6	1030	c.576G>C	c.(574-576)ctG>ctC	p.L192L	RUNX1T1_ENST00000422361.2_Silent_p.L155L|RUNX1T1_ENST00000265814.3_Silent_p.L192L|RUNX1T1_ENST00000520724.1_Silent_p.L155L|RUNX1T1_ENST00000518844.1_Silent_p.L165L|RUNX1T1_ENST00000360348.2_Silent_p.L155L|RUNX1T1_ENST00000436581.2_Silent_p.L203L|RUNX1T1_ENST00000521553.1_Silent_p.L155L|RUNX1T1_ENST00000396218.1_Silent_p.L165L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	192	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCTCACGCTGCAGCAGGGGCA	0.552																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(574-576)ctG>ctC		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							105.0	85.0	92.0					8																	93017508		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017508C>G	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.576G>C	8.37:g.93017508C>G						RUNX1T1_ENST00000422361.2_Silent_p.L155L|RUNX1T1_ENST00000518844.1_Silent_p.L165L|RUNX1T1_ENST00000360348.2_Silent_p.L155L|RUNX1T1_ENST00000520724.1_Silent_p.L155L|RUNX1T1_ENST00000436581.2_Silent_p.L203L|RUNX1T1_ENST00000396218.1_Silent_p.L165L|RUNX1T1_ENST00000265814.3_Silent_p.L192L|RUNX1T1_ENST00000521553.1_Silent_p.L155L	p.L192L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1030	-			192			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.576G>C	CCDS6256.1																																																																																				0.552	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		5	26	0	0	0	1	0	5	26				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	48	0	0	0	1	0	3	48				
PCDHB1	29930	broad.mit.edu	37	5	140431407	140431407	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:140431407C>T	ENST00000306549.3	+	1	429	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCCTTCCGGGCCGAGGT	0.517																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(352-354)Cgg>Tgg									42.0	47.0	45.0					5																	140431407		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431407C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.352C>T	5.37:g.140431407C>T	ENSP00000307234:p.Arg118Trp						p.R118W	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	429	+			118			Cadherin 1.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.352C>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894536	0.33442	.	.	ENSG00000171815	ENST00000306549	T	0.53423	0.62	5.81	4.94	0.65067	Cadherin (3);Cadherin-like (1);	0.000000	0.46758	D	0.000276	T	0.58250	0.2109	M	0.81682	2.555	0.09310	N	1	D	0.71674	0.998	P	0.50791	0.65	T	0.59354	-0.7470	10	0.87932	D	0	.	10.5575	0.45125	0.2617:0.6102:0.1282:0.0	.	118	Q9Y5F3	PCDB1_HUMAN	W	118	ENSP00000307234:R118W	ENSP00000307234:R118W	R	+	1	2	PCDHB1	140411591	0.000000	0.05858	0.962000	0.40283	0.764000	0.43329	-0.008000	0.12788	1.464000	0.47987	0.655000	0.94253	CGG		0.517	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		15	40	0	0	0	1	0	15	40				
ESPL1	9700	broad.mit.edu	37	12	53663407	53663407	+	Silent	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr12:53663407C>T	ENST00000257934.4	+	3	772	c.681C>T	c.(679-681)caC>caT	p.H227H	ESPL1_ENST00000552462.1_Silent_p.H227H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	227					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCTCCAGGCACGTGATCAGAG	0.567																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(679-681)caC>caT		extra spindle pole bodies homolog 1 (S. cerevisiae)							169.0	174.0	172.0					12																	53663407		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663407C>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.681C>T	12.37:g.53663407C>T						ESPL1_ENST00000552462.1_Silent_p.H227H	p.H227H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	772	+			227						Silent	SNP	ENST00000257934.4	37	c.681C>T	CCDS8852.1																																																																																				0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		6	256	0	0	0	1	0	6	256				
C5	727	broad.mit.edu	37	9	123779761	123779761	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr9:123779761T>C	ENST00000223642.1	-	14	1774	c.1745A>G	c.(1744-1746)tAt>tGt	p.Y582C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	582					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GCCTGGAGAATATGCATCTGC	0.413																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1744-1746)tAt>tGt		complement component 5	Eculizumab(DB01257)						57.0	55.0	56.0					9																	123779761		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123779761T>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1745A>G	9.37:g.123779761T>C	ENSP00000223642:p.Tyr582Cys						p.Y582C	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	14	1774	-			582					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.1745A>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.894836	0.33442	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.66638	-0.22	5.93	4.76	0.60689	Alpha-2-macroglobulin, N-terminal 2 (1);	0.658650	0.15766	N	0.245713	T	0.80706	0.4674	M	0.85945	2.785	0.33863	D	0.634018	P;D	0.65815	0.946;0.995	B;P	0.62649	0.427;0.905	D	0.86376	0.1726	10	0.72032	D	0.01	.	10.3469	0.43911	0.332:0.0:0.0:0.668	.	653;582	Q59GS8;P01031	.;CO5_HUMAN	C	582;653	ENSP00000223642:Y582C	ENSP00000223642:Y582C	Y	-	2	0	C5	122819582	0.996000	0.38824	0.992000	0.48379	0.668000	0.39293	1.669000	0.37492	2.258000	0.74832	0.533000	0.62120	TAT		0.413	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		22	25	0	0	0	1	0	22	25				
KCNJ4	3761	broad.mit.edu	37	22	38824098	38824098	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr22:38824098G>A	ENST00000303592.3	-	2	298	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	14					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGCTTCCGCCGGGGCACGTGG	0.642																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(40-42)Cgg>Tgg		potassium inwardly-rectifying channel, subfamily J, member 4							216.0	194.0	201.0					22																	38824098		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38824098G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.40C>T	22.37:g.38824098G>A	ENSP00000306497:p.Arg14Trp						p.R14W	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	298	-	Melanoma(58;0.0286)		14					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.40C>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055826	0.76074	.	.	ENSG00000168135	ENST00000303592	D	0.89875	-2.58	4.4	3.35	0.38373	.	0.770623	0.11384	N	0.569488	D	0.94062	0.8097	M	0.87180	2.865	0.47905	D	0.999547	D	0.76494	0.999	P	0.59115	0.852	D	0.92779	0.6239	10	0.72032	D	0.01	.	13.51	0.61506	0.0:0.0:0.8374:0.1626	.	14	P48050	IRK4_HUMAN	W	14	ENSP00000306497:R14W	ENSP00000306497:R14W	R	-	1	2	KCNJ4	37154044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.994000	0.56994	0.927000	0.37143	0.555000	0.69702	CGG		0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		8	346	0	0	0	1	0	8	346				
OLFML1	283298	broad.mit.edu	37	11	7531065	7531065	+	Silent	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr11:7531065G>A	ENST00000329293.3	+	3	1249	c.855G>A	c.(853-855)ggG>ggA	p.G285G	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.G285G|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	285	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCACTCTGGGCCAGGCACCC	0.572																																						ENST00000329293.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(853-855)ggG>ggA		olfactomedin-like 1							60.0	51.0	54.0					11																	7531065		2201	4296	6497	SO:0001819	synonymous_variant	283298					extracellular region		g.chr11:7531065G>A	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.855G>A	11.37:g.7531065G>A						CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Silent_p.G285G	p.G285G	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	1249	+			285			Olfactomedin-like.		B4DP03|Q569G4	Silent	SNP	ENST00000329293.3	37	c.855G>A	CCDS7779.1																																																																																				0.572	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		3	38	0	0	0	1	0	3	38				
SYNPO	11346	broad.mit.edu	37	5	150027814	150027814	+	Missense_Mutation	SNP	G	G	A	rs78583075	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:150027814G>A	ENST00000394243.1	+	3	1083	c.709G>A	c.(709-711)Gac>Aac	p.D237N	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.D237N|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000518872.1_Intron	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	237					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAGCCCCGACAGAGGGGT	0.672													G|||	10	0.00199681	0.0	0.0	5008	,	,		16630	0.0099		0.0	False		,,,				2504	0.0					ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(709-711)Gac>Aac		synaptopodin		G	,ASN/ASP,ASN/ASP,	1,4403		0,1,2201	25.0	32.0	30.0		,709,709,	0.7	0.0	5	dbSNP_131	30	0,8600		0,0,4300	yes	utr-5,missense,missense,utr-5	SYNPO	NM_001109974.2,NM_001166208.1,NM_001166209.1,NM_007286.5	,23,23,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,	,237/930,237/930,	150027814	1,13003	2202	4300	6502	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150027814G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.709G>A	5.37:g.150027814G>A	ENSP00000377789:p.Asp237Asn					SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.D237N	p.D237N	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	1083	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	237					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.709G>A	CCDS54937.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	11.40	1.627317	0.28978	2.27E-4	0.0	ENSG00000171992	ENST00000394243;ENST00000522122	T;T	0.23754	1.89;1.89	5.16	0.687	0.18020	.	1.765110	0.03141	N	0.166609	T	0.10809	0.0264	N	0.24115	0.695	0.09310	N	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.14008	-1.0488	10	0.20046	T	0.44	0.0715	1.0321	0.01540	0.3139:0.1501:0.3824:0.1535	.	237	Q8N3V7	SYNPO_HUMAN	N	237	ENSP00000377789:D237N;ENSP00000428378:D237N	ENSP00000377789:D237N	D	+	1	0	SYNPO	150008007	0.002000	0.14202	0.012000	0.15200	0.674000	0.39518	0.878000	0.28126	-0.183000	0.10585	-0.258000	0.10820	GAC		0.672	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		11	18	0	0	0	1	0	11	18				
PRSS1	5644	broad.mit.edu	37	7	142459851	142459851	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr7:142459851G>A	ENST00000311737.7	+	3	433	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	PRSS1_ENST00000486171.1_Missense_Mutation_p.G157S	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCTCATCTCTGGCTGGGGCAA	0.567																																						ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(469-471)Ggc>Agc		protease, serine, 1 (trypsin 1)							68.0	71.0	70.0					7																	142459851		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459851G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.427G>A	7.37:g.142459851G>A	ENSP00000308720:p.Gly143Ser					PRSS1_ENST00000311737.7_Missense_Mutation_p.G143S	p.G157S			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		4	486	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	143			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.469G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504313	0.64410	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.99532	-6.1;-6.1;-4.11	3.28	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96236	0.9172	10	0.87932	D	0	.	14.0086	0.64481	0.0:0.0:1.0:0.0	.	157;143	E7EQ64;P07477	.;TRY1_HUMAN	S	157;143;133;93	ENSP00000417854:G157S;ENSP00000308720:G143S;ENSP00000419912:G93S	ENSP00000308720:G143S	G	+	1	0	PRSS1	142139425	1.000000	0.71417	0.996000	0.52242	0.031000	0.12232	9.680000	0.98651	1.789000	0.52484	0.398000	0.26397	GGC		0.567	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			11	44	0	0	0	1	0	11	44				
LIG3	3980	broad.mit.edu	37	17	33310098	33310098	+	Missense_Mutation	SNP	G	G	A	rs187881525	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr17:33310098G>A	ENST00000378526.4	+	2	207	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.R25Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	25					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TGCCTATTCCGAAAACATCAC	0.463								Other BER factors					G|||	2	0.000399361	0.0	0.0029	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.0					ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(73-75)cGa>cAa	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						92.0	86.0	88.0					17																	33310098		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33310098G>A		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.74G>A	17.37:g.33310098G>A	ENSP00000367787:p.Arg25Gln					LIG3_ENST00000586407.1_Intron|LIG3_ENST00000262327.5_Missense_Mutation_p.R25Q	p.R25Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			2	207	+		Ovarian(249;0.17)	25					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.74G>A	CCDS11284.2	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	8.748	0.920607	0.17982	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.61742	0.21;0.08	5.01	-1.94	0.07571	.	1.573020	0.03995	N	0.295502	T	0.34077	0.0885	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.14438	0.001;0.001;0.003;0.01	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.35699	-0.9778	10	0.66056	D	0.02	1.8231	5.3353	0.15955	0.4341:0.1478:0.4181:0.0	.	25;25;25;25	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	Q	25	ENSP00000367787:R25Q;ENSP00000262327:R25Q	ENSP00000262327:R25Q	R	+	2	0	LIG3	30334211	0.020000	0.18652	0.004000	0.12327	0.004000	0.04260	-0.155000	0.10115	-0.161000	0.10983	-0.793000	0.03317	CGA		0.463	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		18	39	0	0	0	1	0	18	39				
COL4A2	1284	broad.mit.edu	37	13	111130444	111130444	+	Silent	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr13:111130444G>A	ENST00000360467.5	+	30	2826	c.2520G>A	c.(2518-2520)ctG>ctA	p.L840L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	840	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTCCAGGACTGCATGGATTCC	0.662																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2518-2520)ctG>ctA		collagen, type IV, alpha 2							19.0	22.0	21.0					13																	111130444		1859	4089	5948	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111130444G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2520G>A	13.37:g.111130444G>A							p.L840L	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		30	2826	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	840			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.2520G>A	CCDS41907.1																																																																																				0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		3	19	0	0	0	1	0	3	19				
RYR2	6262	broad.mit.edu	37	1	237972270	237972270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr1:237972270C>T	ENST00000366574.2	+	100	14685	c.14368C>T	c.(14368-14370)Cga>Tga	p.R4790*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					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.R4788R(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)			CAATTTTTTCCGAAAATTCTA	0.353																																						ENST00000366574.2																			1	Substitution - coding silent(1)	p.R4788R(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.(14368-14370)Cga>Tga		ryanodine receptor 2 (cardiac)							260.0	254.0	256.0					1																	237972270		1845	4094	5939	SO:0001587	stop_gained	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.chr1:237972270C>T	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.14368C>T	1.37:g.237972270C>T	ENSP00000355533:p.Arg4790*					RYR2_ENST00000542537.1_Nonsense_Mutation_p.R4774*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R4796*	p.R4790*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		100	14685	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4790					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.14368C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	55	24.986533	0.99963	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	.	.	.	4.88	3.95	0.45737	.	0.000000	0.47852	U	0.000203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.754	0.69549	0.146:0.854:0.0:0.0	.	.	.	.	X	4790;4796;4774;223	.	ENSP00000353174:R4796X	R	+	1	2	RYR2	236038893	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.324000	0.52022	1.162000	0.42619	-0.309000	0.09137	CGA		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		68	88	0	0	0	1	0	68	88				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	28	0	0	0	1	0	3	28				
FLRT2	23768	broad.mit.edu	37	14	86087985	86087985	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr14:86087985G>A	ENST00000330753.4	+	2	894	c.127G>A	c.(127-129)Gac>Aac	p.D43N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D43N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	43	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.D43N(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTGCCGCTGCGACAGGAACTT	0.522																																						ENST00000330753.4																			2	Substitution - Missense(2)	p.D43N(2)	large_intestine(1)|endometrium(1)	NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(127-129)Gac>Aac		fibronectin leucine rich transmembrane protein 2							124.0	116.0	118.0					14																	86087985		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087985G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.127G>A	14.37:g.86087985G>A	ENSP00000332879:p.Asp43Asn					FLRT2_ENST00000554746.1_Missense_Mutation_p.D43N	p.D43N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	894	+			43			LRRNT.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.127G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224776	0.95173	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	D;D	0.96104	-3.91;-3.91	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (2);	0.047964	0.85682	D	0.000000	D	0.90270	0.6957	N	0.17631	0.505	0.80722	D	1	P	0.46457	0.878	B	0.34038	0.174	D	0.90594	0.4539	10	0.42905	T	0.14	-31.8616	19.9036	0.96999	0.0:0.0:1.0:0.0	.	43	O43155	FLRT2_HUMAN	N	43	ENSP00000332879:D43N;ENSP00000451050:D43N	ENSP00000332879:D43N	D	+	1	0	FLRT2	85157738	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.061000	0.89467	2.706000	0.92434	0.655000	0.94253	GAC		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			17	105	0	0	0	1	0	17	105				
PCDH12	51294	broad.mit.edu	37	5	141335501	141335501	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:141335501C>T	ENST00000231484.3	-	1	3126	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	639	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCCACTGCGGATGCTGTA	0.567																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1915-1917)cGc>cAc		protocadherin 12							74.0	67.0	70.0					5																	141335501		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335501C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1916G>A	5.37:g.141335501C>T	ENSP00000231484:p.Arg639His						p.R639H	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3126	-		all_hematologic(541;0.0999)	639			Cadherin 6.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1916G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	8.900	0.956043	0.18507	.	.	ENSG00000113555	ENST00000231484	T	0.51817	0.69	5.38	-0.497	0.12023	Cadherin (4);Cadherin-like (1);	0.691899	0.14591	N	0.310280	T	0.34513	0.0900	L	0.45352	1.415	0.09310	N	1	D	0.53151	0.958	B	0.43360	0.417	T	0.21008	-1.0258	10	0.32370	T	0.25	.	5.5187	0.16921	0.0:0.3641:0.1455:0.4904	.	639	Q9NPG4	PCD12_HUMAN	H	639	ENSP00000231484:R639H	ENSP00000231484:R639H	R	-	2	0	PCDH12	141315685	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.161000	0.10026	0.002000	0.14630	0.655000	0.94253	CGC		0.567	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		15	34	0	0	0	1	0	15	34				
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGCTCCACTGCCTCCATCC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19985	0.0		0.0	False		,,,				2504	0.0					ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(373-375)acT>acC		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	50.0					4																	9784028		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784028T>C	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.375T>C	4.37:g.9784028T>C							p.T125T	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	771	+			125					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.375T>C	CCDS3405.1																																																																																				0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			4	43	0	0	0	1	0	4	43				
RAI1	10743	broad.mit.edu	37	17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	rs113303801|rs398124422|rs371983878|rs571229335|rs587780431	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(832-834)caG>caC		retinoic acid induced 1							18.0	23.0	22.0					17																	17697096		2081	4107	6188	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17697096G>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.834G>C	17.37:g.17697096G>C	ENSP00000323074:p.Gln278His					RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1303	+			278			Gln-rich.|Poly-Gln.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.834G>C	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	g	0.076	-1.192861	0.01607	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.69806	-0.43;1.41;0.17	4.53	-9.06	0.00727	.	0.597522	0.15390	N	0.264894	T	0.43743	0.1261	L	0.39898	1.24	0.18873	N	0.999987	P	0.37864	0.61	B	0.37198	0.243	T	0.31392	-0.9945	10	0.35671	T	0.21	.	4.0515	0.09798	0.4386:0.1326:0.3468:0.0819	.	278	Q7Z5J4	RAI1_HUMAN	H	278;278;278;278;278;255	ENSP00000323074:Q278H;ENSP00000379120:Q278H;ENSP00000261641:Q278H	ENSP00000261641:Q278H	Q	+	3	2	RAI1	17637821	0.953000	0.32496	0.000000	0.03702	0.311000	0.27955	0.063000	0.14410	-2.722000	0.00388	-1.461000	0.01025	CAG		0.637	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		3	29	0	0	0	1	0	3	29				
AZU1	566	broad.mit.edu	37	19	829580	829580	+	Silent	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr19:829580C>T	ENST00000233997.2	+	3	255	c.234C>T	c.(232-234)acC>acT	p.T78T		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	78	Hydrophobic.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTTAGCACCGTGGTGCTGG	0.637																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(232-234)acC>acT		azurocidin 1							78.0	75.0	76.0					19																	829580		2203	4300	6503	SO:0001819	synonymous_variant	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:829580C>T	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.234C>T	19.37:g.829580C>T							p.T78T	NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	255	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	78			Hydrophobic.|Peptidase S1.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	ENST00000233997.2	37	c.234C>T	CCDS12044.1																																																																																				0.637	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		18	116	0	0	0	1	0	18	116				
BANK1	55024	broad.mit.edu	37	4	102981512	102981512	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr4:102981512A>C	ENST00000322953.4	+	12	2388	c.2114A>C	c.(2113-2115)cAg>cCg	p.Q705P	BANK1_ENST00000504592.1_Missense_Mutation_p.Q690P|BANK1_ENST00000428908.1_Missense_Mutation_p.Q572P|BANK1_ENST00000444316.2_Missense_Mutation_p.Q675P|BANK1_ENST00000508653.1_Missense_Mutation_p.Q572P	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	705					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAACACTGGCAGATGGGAAAA	0.433																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(2068-2070)cAg>cCg		B-cell scaffold protein with ankyrin repeats 1							89.0	94.0	92.0					4																	102981512		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102981512A>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2114A>C	4.37:g.102981512A>C	ENSP00000320509:p.Gln705Pro					BANK1_ENST00000508653.1_Missense_Mutation_p.Q572P|BANK1_ENST00000444316.2_Missense_Mutation_p.Q675P|BANK1_ENST00000428908.1_Missense_Mutation_p.Q572P|BANK1_ENST00000322953.4_Missense_Mutation_p.Q705P	p.Q690P			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	16	2487	+		Hepatocellular(203;0.217)	705					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2069A>C	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.706184	0.68615	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.41065	1.7;1.65;1.01;1.01;1.69	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.62723	1.935	0.40395	D	0.979589	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.65245	-0.6215	10	0.87932	D	0	.	12.1652	0.54125	1.0:0.0:0.0:0.0	.	572;705;690	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	P	690;705;572;572;675	ENSP00000421443:Q690P;ENSP00000320509:Q705P;ENSP00000412748:Q572P;ENSP00000422314:Q572P;ENSP00000388817:Q675P	ENSP00000320509:Q705P	Q	+	2	0	BANK1	103200535	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.593000	0.61034	2.136000	0.66102	0.459000	0.35465	CAG		0.433	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		24	37	0	0	0	1	0	24	37				
PSME4	23198	broad.mit.edu	37	2	54114534	54114534	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr2:54114534G>C	ENST00000404125.1	-	40	4646	c.4591C>G	c.(4591-4593)Cct>Gct	p.P1531A	PSME4_ENST00000421748.2_Missense_Mutation_p.P675A|PSME4_ENST00000476586.1_5'Flank	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAAACTCAGGGACATGAGGC	0.373																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(4591-4593)Cct>Gct		proteasome (prosome, macropain) activator subunit 4							121.0	111.0	114.0					2																	54114534		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54114534G>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4591C>G	2.37:g.54114534G>C	ENSP00000384211:p.Pro1531Ala					PSME4_ENST00000421748.2_Missense_Mutation_p.P675A	p.P1531A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		40	4646	-			1531					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4591C>G	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	9.662	1.144345	0.21205	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.66280	-0.2;-0.2	5.48	2.19	0.27852	Armadillo-like helical (1);Armadillo-type fold (1);	0.299113	0.37483	N	0.002079	T	0.26268	0.0641	N	0.01352	-0.895	0.31355	N	0.68211	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.27905	-1.0060	10	0.08381	T	0.77	1.9818	8.9163	0.35583	0.3443:0.0:0.6557:0.0	.	906;675;675;1531	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	A	675;1531	ENSP00000410830:P675A;ENSP00000384211:P1531A	ENSP00000384211:P1531A	P	-	1	0	PSME4	53968038	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.863000	0.27913	0.785000	0.33685	0.655000	0.94253	CCT		0.373	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		8	52	0	0	0	1	0	8	52				
NETO2	81831	broad.mit.edu	37	16	47143592	47143592	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr16:47143592C>T	ENST00000562435.1	-	7	1069	c.685G>A	c.(685-687)Gag>Aag	p.E229K	NETO2_ENST00000303155.5_Missense_Mutation_p.E222K	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	229	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTTGAGTGCTCCATTTGATAA	0.323										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(685-687)Gag>Aag		neuropilin (NRP) and tolloid (TLL)-like 2							78.0	74.0	75.0					16																	47143592		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47143592C>T	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.685G>A	16.37:g.47143592C>T	ENSP00000455169:p.Glu229Lys	HNSCC(25;0.065)				NETO2_ENST00000303155.5_Missense_Mutation_p.E222K	p.E229K	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			7	1069	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	229			CUB 2.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.685G>A	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307178	0.60305	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.48	5.48	0.80851	CUB (5);	0.052883	0.64402	D	0.000001	T	0.70675	0.3251	M	0.78456	2.415	0.58432	D	0.999996	B;P;P	0.47484	0.24;0.801;0.896	B;B;P	0.48368	0.403;0.339;0.575	T	0.75363	-0.3344	9	0.72032	D	0.01	.	15.2189	0.73296	0.0:0.8598:0.1402:0.0	.	86;222;229	B7Z4I7;Q32NC3;Q8NC67	.;.;NETO2_HUMAN	K	229	.	ENSP00000306726:E229K	E	-	1	0	NETO2	45701093	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.832000	0.62759	2.727000	0.93392	0.585000	0.79938	GAG		0.323	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		29	44	0	0	0	1	0	29	44				
GAS7	8522	broad.mit.edu	37	17	9843494	9843494	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr17:9843494G>A	ENST00000432992.2	-	8	915	c.755C>T	c.(754-756)gCg>gTg	p.A252V	GAS7_ENST00000580865.1_Missense_Mutation_p.A112V|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.A192V|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000579158.1_Missense_Mutation_p.A188V|GAS7_ENST00000542249.1_Missense_Mutation_p.A188V|GAS7_ENST00000437099.2_Missense_Mutation_p.A188V|GAS7_ENST00000585266.1_Missense_Mutation_p.A192V	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	252	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TAAGTTCTTCGCATAGTCTTC	0.537			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(574-576)gCg>gTg		growth arrest-specific 7							197.0	174.0	182.0					17																	9843494		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9843494G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.755C>T	17.37:g.9843494G>A	ENSP00000407552:p.Ala252Val					GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.A188V|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000432992.2_Missense_Mutation_p.A252V|GAS7_ENST00000585266.1_Missense_Mutation_p.A188V|GAS7_ENST00000542249.1_Missense_Mutation_p.A197V|GAS7_ENST00000437099.2_Missense_Mutation_p.A188V|GAS7_ENST00000580865.1_Missense_Mutation_p.A112V|GAS7_ENST00000579158.1_Missense_Mutation_p.A204V	p.A192V	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			8	885	-			252					A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.575C>T	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999247	0.93227	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.60797	0.16	4.88	4.88	0.63580	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.991;0.993;0.991	T	0.78974	-0.1992	9	.	.	.	-1.7598	15.3977	0.74808	0.0:0.0:1.0:0.0	.	204;192;112;252	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	V	252;192;191;112;192;66	ENSP00000379421:A192V	.	A	-	2	0	GAS7	9784219	1.000000	0.71417	0.984000	0.44739	0.966000	0.64601	8.743000	0.91592	2.696000	0.92011	0.655000	0.94253	GCG		0.537	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		5	194	0	0	0	1	0	5	194				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		7	102	0	0	0	1	0	7	102				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	117	0	0	0	1	0	5	117				
MUC13	56667	broad.mit.edu	37	3	124627149	124627149	+	Missense_Mutation	SNP	C	C	T	rs75643991		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr3:124627149C>T	ENST00000311075.3	-	11	1419	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	462					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TGAAAGTCTTCGTCAATCAAG	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		17248	0.0		0.001	False		,,,				2504	0.0					ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(1381-1383)Gaa>Aaa		mucin 13, cell surface associated		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	86.0	82.0	83.0		1381	-6.2	0.0	3	dbSNP_131	83	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MUC13	NM_033049.3	56	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	benign	461/512	124627149	6,13000	2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124627149C>T	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1381G>A	3.37:g.124627149C>T	ENSP00000312235:p.Glu461Lys						p.E461K	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			11	1419	-			461					Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.1381G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.695	0.312795	0.10789	4.54E-4	4.65E-4	ENSG00000173702	ENST00000311075	T	0.14144	2.53	4.18	-6.19	0.02078	.	1.017770	0.07856	N	0.965413	T	0.04272	0.0118	N	0.04508	-0.205	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.44997	-0.9291	10	0.08599	T	0.76	-12.1255	7.1962	0.25853	0.1312:0.5197:0.0:0.3491	.	461	Q9H3R2	MUC13_HUMAN	K	461	ENSP00000312235:E461K	ENSP00000312235:E461K	E	-	1	0	MUC13	126109839	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.566000	0.05922	-1.196000	0.02676	-0.122000	0.15005	GAA		0.413	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		16	59	0	0	0	1	0	16	59				
SLC4A2	6522	broad.mit.edu	37	7	150773114	150773114	+	Silent	SNP	T	T	C			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr7:150773114T>C	ENST00000485713.1	+	22	4526	c.3486T>C	c.(3484-3486)cgT>cgC	p.R1162R	RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000461735.1_Silent_p.R1148R|SLC4A2_ENST00000310317.5_Silent_p.R1080R|SLC4A2_ENST00000413384.2_Silent_p.R1162R|SLC4A2_ENST00000392826.2_Silent_p.R1153R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1162	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACCCTCCGTATGCACCTGT	0.652																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3484-3486)cgT>cgC		solute carrier family 4 (anion exchanger), member 2							62.0	62.0	62.0					7																	150773114		2203	4299	6502	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150773114T>C		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3486T>C	7.37:g.150773114T>C						SLC4A2_ENST00000310317.5_Silent_p.R1080R|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Silent_p.R1153R|SLC4A2_ENST00000413384.2_Silent_p.R1162R|SLC4A2_ENST00000461735.1_Silent_p.R1148R	p.R1162R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	22	4526	+			1162			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.3486T>C	CCDS5917.1																																																																																				0.652	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		19	27	0	0	0	1	0	19	27				
YTHDC2	64848	broad.mit.edu	37	5	112878169	112878169	+	Silent	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:112878169C>T	ENST00000161863.4	+	10	1677	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V	YTHDC2_ENST00000515883.1_Silent_p.V488V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	488					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.V488V(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGCTCAGGTCTTTCATCTCA	0.294																																						ENST00000161863.4																			1	Substitution - coding silent(1)	p.V488V(1)	lung(1)	NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1462-1464)gtC>gtT		YTH domain containing 2							146.0	143.0	144.0					5																	112878169		2202	4299	6501	SO:0001819	synonymous_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112878169C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1464C>T	5.37:g.112878169C>T						YTHDC2_ENST00000515883.1_Silent_p.V488V	p.V488V	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	10	1677	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	488					B2RP66	Silent	SNP	ENST00000161863.4	37	c.1464C>T	CCDS4113.1																																																																																				0.294	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		20	73	0	0	0	1	0	20	73				
ANGPTL5	253935	broad.mit.edu	37	11	101765741	101765741	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr11:101765741G>A	ENST00000334289.3	-	8	1311	c.716C>T	c.(715-717)aCc>aTc	p.T239I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	239	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CATAAAACTGGTATTTTTCTG	0.274																																						ENST00000334289.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(715-717)aCc>aTc		angiopoietin-like 5							60.0	62.0	62.0					11																	101765741		2201	4296	6497	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101765741G>A	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.716C>T	11.37:g.101765741G>A	ENSP00000335255:p.Thr239Ile						p.T239I	NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	8	1311	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	239			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.716C>T	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733339	0.48939	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.77229	-1.08;-1.08	5.38	3.51	0.40186	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.255608	0.45361	N	0.000363	T	0.72748	0.3499	L	0.61387	1.9	0.39630	D	0.970161	B	0.25206	0.12	B	0.31016	0.123	T	0.67193	-0.5732	10	0.39692	T	0.17	.	7.3742	0.26818	0.1442:0.0:0.7194:0.1364	.	239	Q86XS5	ANGL5_HUMAN	I	239;174	ENSP00000335255:T239I;ENSP00000433562:T174I	ENSP00000335255:T239I	T	-	2	0	ANGPTL5	101270951	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.920000	0.56446	0.636000	0.30508	0.650000	0.86243	ACC		0.274	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		9	43	0	0	0	1	0	9	43				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	45	0	0	0	1	0	4	45				
ZSCAN25	221785	broad.mit.edu	37	7	99217449	99217449	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr7:99217449G>A	ENST00000394152.2	+	4	547	c.220G>A	c.(220-222)Gag>Aag	p.E74K	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E74K|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E74K|ZSCAN25_ENST00000466948.1_3'UTR	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCTGAGGCCCGAGTTGCACAC	0.627																																						ENST00000394152.2																			0											c.(220-222)Gag>Aag		zinc finger and SCAN domain containing 25							64.0	70.0	68.0					7																	99217449		2203	4300	6503	SO:0001583	missense	221785							g.chr7:99217449G>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.220G>A	7.37:g.99217449G>A	ENSP00000377708:p.Glu74Lys					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E74K|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E74K	p.E74K	NM_145115.2	NP_660090.2					4	547	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.220G>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895256	0.52121	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.07216	3.21;3.21;3.21	4.14	4.14	0.48551	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.44285	D	0.000462	T	0.27349	0.0671	M	0.77712	2.385	0.32247	N	0.571959	D;D	0.89917	0.996;1.0	P;D	0.74348	0.859;0.983	T	0.21042	-1.0257	10	0.87932	D	0	-30.7727	12.243	0.54553	0.0:0.0:1.0:0.0	.	74;74	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	K	74	ENSP00000377708:E74K;ENSP00000334800:E74K;ENSP00000262941:E74K	ENSP00000262941:E74K	E	+	1	0	ZNF498	99055385	0.020000	0.18652	0.950000	0.38849	0.113000	0.19764	1.138000	0.31491	2.595000	0.87683	0.655000	0.94253	GAG		0.627	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		37	75	0	0	0	1	0	37	75				
GBP6	163351	broad.mit.edu	37	1	89844044	89844044	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr1:89844044C>T	ENST00000370456.4	+	5	590	c.497C>T	c.(496-498)tCc>tTc	p.S166F	GBP6_ENST00000535065.1_Missense_Mutation_p.S36F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	166	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GTAGAAGATTCCACAGAGTTT	0.453																																						ENST00000370456.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(496-498)tCc>tTc		guanylate binding protein family, member 6							124.0	131.0	129.0					1																	89844044		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89844044C>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.497C>T	1.37:g.89844044C>T	ENSP00000359485:p.Ser166Phe					GBP6_ENST00000535065.1_Missense_Mutation_p.S36F	p.S166F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	5	590	+		Lung NSC(277;0.0908)	166					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.497C>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880789	0.51801	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.76316	-1.01;-1.01	4.97	3.0	0.34707	Guanylate-binding protein, N-terminal (1);	0.486738	0.19966	N	0.102120	D	0.83436	0.5254	M	0.88512	2.96	0.19300	N	0.999979	D	0.89917	1.0	D	0.81914	0.995	T	0.76605	-0.2898	10	0.87932	D	0	-13.1611	9.5929	0.39557	0.1597:0.6861:0.1542:0.0	.	166	Q6ZN66	GBP6_HUMAN	F	137;166;36	ENSP00000359485:S166F;ENSP00000442530:S36F	ENSP00000359485:S166F	S	+	2	0	GBP6	89616632	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	1.084000	0.30828	0.439000	0.26476	0.585000	0.79938	TCC		0.453	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		22	80	0	0	0	1	0	22	80				
ADH6	130	broad.mit.edu	37	4	100126203	100126203	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr4:100126203G>A	ENST00000237653.7	-	8	1366	c.982C>T	c.(982-984)Cac>Tac	p.H328Y	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394897.1_Silent_p.S282S|ADH6_ENST00000407820.2_Missense_Mutation_p.H119Y|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.H328Y|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	328					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TTAGGGATGTGCTGTCTGCTC	0.363																																						ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(982-984)Cac>Tac		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						150.0	142.0	145.0					4																	100126203		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100126203G>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.982C>T	4.37:g.100126203G>A	ENSP00000237653:p.His328Tyr					RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.H119Y|ADH6_ENST00000394897.1_Silent_p.S282S|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.H328Y	p.H328Y	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	8	1075	-			328					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.982C>T	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	5.621	0.299299	0.10622	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653	T;T;T	0.06371	3.31;3.31;3.31	3.79	-6.89	0.01660	Alcohol dehydrogenase, C-terminal (1);	1.741470	0.02705	N	0.112160	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B;B;B	0.27498	0.002;0.18;0.139	B;B;B	0.26416	0.002;0.064;0.069	T	0.38045	-0.9679	10	0.62326	D	0.03	0.9617	4.4481	0.11607	0.3874:0.4156:0.1:0.097	.	205;328;328	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	Y	328;119;328	ENSP00000378359:H328Y;ENSP00000384997:H119Y;ENSP00000237653:H328Y	ENSP00000237653:H328Y	H	-	1	0	ADH6	100345226	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.999000	0.00316	-1.543000	0.01723	-0.280000	0.10049	CAC		0.363	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		4	106	0	0	0	1	0	4	106				
TPM3P9	147804	broad.mit.edu	37	19	53945837	53945837	+	RNA	SNP	T	T	C	rs17855120	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr19:53945837T>C	ENST00000424846.3	+	0	834				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		GGACCAGACTTTGCTTGACCT	0.512													N|||	3618	0.722444	0.5348	0.8084	5008	,	,		13659	0.6012		0.8569	False		,,,				2504	0.9018					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945837T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945837T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.512	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		3	27	0	0	0	1	0	3	27				
SCP2	6342	broad.mit.edu	37	1	53453802	53453802	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr1:53453802G>A	ENST00000528311.1	+	10	1128	c.832G>A	c.(832-834)Gct>Act	p.A278T	SCP2_ENST00000407246.2_Missense_Mutation_p.A335T|SCP2_ENST00000371513.5_Missense_Mutation_p.A315T|SCP2_ENST00000371509.4_Missense_Mutation_p.A315T|SCP2_ENST00000371514.3_Missense_Mutation_p.A359T	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CCCACTAGGCGCTACAGGTAA	0.368																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(1075-1077)Gct>Act		sterol carrier protein 2							66.0	71.0	70.0					1																	53453802		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53453802G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.832G>A	1.37:g.53453802G>A	ENSP00000434132:p.Ala278Thr					SCP2_ENST00000528311.1_Missense_Mutation_p.A278T|SCP2_ENST00000407246.2_Missense_Mutation_p.A335T|SCP2_ENST00000371509.4_Missense_Mutation_p.A315T|SCP2_ENST00000371513.5_Missense_Mutation_p.A315T	p.A359T	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN			11	1243	+			359					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.1075G>A	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594882	0.96602	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	D;D;D;D;D	0.93366	-2.06;-3.21;-2.06;-2.06;-3.21	5.8	5.8	0.92144	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, conserved site (1);Thiolase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.99316	1.0905	10	0.87932	D	0	-19.6966	19.669	0.95903	0.0:0.0:1.0:0.0	.	335;315;359;315	C9JC79;A6NM69;P22307;Q6NXF4	.;.;NLTP_HUMAN;.	T	359;278;315;335;315	ENSP00000360569:A359T;ENSP00000434132:A278T;ENSP00000360564:A315T;ENSP00000384569:A335T;ENSP00000360568:A315T	ENSP00000360564:A315T	A	+	1	0	SCP2	53226390	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.840000	0.92125	2.741000	0.93983	0.650000	0.86243	GCT		0.368	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		15	18	0	0	0	1	0	15	18				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	38	0	0	0	1	0	3	38				
OR4K15	81127	broad.mit.edu	37	14	20444489	20444489	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr14:20444489T>A	ENST00000305051.5	+	1	887	c.812T>A	c.(811-813)gTc>gAc	p.V271D		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCACTGTGGTCACTTTATTC	0.458																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(811-813)gTc>gAc		olfactory receptor, family 4, subfamily K, member 15							146.0	121.0	130.0					14																	20444489		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444489T>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.812T>A	14.37:g.20444489T>A	ENSP00000304077:p.Val271Asp						p.V271D	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	887	+	all_cancers(95;0.00108)		271					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.812T>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	14.97	2.695070	0.48202	.	.	ENSG00000169488	ENST00000305051	T	0.00367	7.78	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000326	T	0.01870	0.0059	H	0.98738	4.315	0.54753	D	0.999983	D	0.69078	0.997	D	0.79108	0.992	T	0.01711	-1.1290	10	0.87932	D	0	.	10.8799	0.46933	0.0:0.0:0.0:1.0	.	271	Q8NH41	OR4KF_HUMAN	D	271	ENSP00000304077:V271D	ENSP00000304077:V271D	V	+	2	0	OR4K15	19514329	0.950000	0.32346	0.992000	0.48379	0.512000	0.34134	4.179000	0.58290	1.665000	0.50811	0.482000	0.46254	GTC		0.458	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			24	53	0	0	0	1	0	24	53				
MKI67	4288	broad.mit.edu	37	10	129911740	129911740	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr10:129911740C>A	ENST00000368654.3	-	8	1982	c.1607G>T	c.(1606-1608)aGa>aTa	p.R536I	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.R176I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	536					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGAGACTTTCTTTTGGTTGG	0.498																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(1606-1608)aGa>aTa		marker of proliferation Ki-67							225.0	204.0	211.0					10																	129911740		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129911740C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1607G>T	10.37:g.129911740C>A	ENSP00000357643:p.Arg536Ile					MKI67_ENST00000368653.3_Missense_Mutation_p.R176I	p.R536I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			8	1982	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	536					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1607G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553514	0.65425	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01584	4.8;4.75	4.95	4.95	0.65309	.	0.135032	0.48286	D	0.000184	T	0.09686	0.0238	M	0.79258	2.445	0.20196	N	0.999925	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.994;0.991;0.991	T	0.01500	-1.1339	10	0.87932	D	0	.	12.6137	0.56565	0.2299:0.7701:0.0:0.0	.	536;176;536	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	536;176;536;111	ENSP00000357643:R536I;ENSP00000357642:R176I	ENSP00000357641:R111I	R	-	2	0	MKI67	129801730	0.000000	0.05858	0.012000	0.15200	0.837000	0.47467	0.256000	0.18351	2.576000	0.86940	0.655000	0.94253	AGA		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	205	1	0	0.00116845	1	0.00116845	6	205				
BMS1P20	96610	broad.mit.edu	37	22	22664240	22664240	+	RNA	SNP	T	T	G			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr22:22664240T>G	ENST00000426066.1	+	0	763					NR_027293.1				BMS1 pseudogene 20																		GATAAGCTGCTGATGAGCGGT	0.532																																						ENST00000426066.1																			0																																																			0							g.chr22:22664240T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664240T>G								NR_027293.1						0	763	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.532	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	53	0	0	0	1	0	3	53				
TENM2	57451	broad.mit.edu	37	5	167420005	167420005	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr5:167420005C>T	ENST00000518659.1	+	5	1043	c.1004C>T	c.(1003-1005)cCg>cTg	p.P335L	TENM2_ENST00000545108.1_Missense_Mutation_p.P335L|TENM2_ENST00000519204.1_Missense_Mutation_p.P214L|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000403607.2_Missense_Mutation_p.P168L|TENM2_ENST00000520394.1_Missense_Mutation_p.P144L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	335	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGCTCTTCCCCGGGATACCCT	0.577																																						ENST00000519204.1																			0											c.(640-642)cCg>cTg		teneurin transmembrane protein 2							83.0	84.0	84.0					5																	167420005		1920	4124	6044	SO:0001583	missense	57451							g.chr5:167420005C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1004C>T	5.37:g.167420005C>T	ENSP00000429430:p.Pro335Leu					TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000545108.1_Missense_Mutation_p.P335L|TENM2_ENST00000403607.2_Missense_Mutation_p.P168L|TENM2_ENST00000518659.1_Missense_Mutation_p.P335L|TENM2_ENST00000520394.1_Missense_Mutation_p.P144L	p.P214L							4	759	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.641C>T		.	.	.	.	.	.	.	.	.	.	C	35	5.481324	0.96307	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.74	5.74	0.90152	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.994	T	0.67585	-0.5633	10	0.54805	T	0.06	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	335;144;214	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	L	335;335;214;144;168	ENSP00000429430:P335L;ENSP00000438635:P335L;ENSP00000428964:P214L;ENSP00000427874:P144L;ENSP00000384905:P168L	ENSP00000384905:P168L	P	+	2	0	ODZ2	167352583	1.000000	0.71417	0.957000	0.39632	0.935000	0.57460	7.818000	0.86416	2.712000	0.92718	0.650000	0.86243	CCG		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	62	0	0	0	1	0	6	62				
MGST1	4257	broad.mit.edu	37	12	16516847	16516847	+	Missense_Mutation	SNP	C	C	T	rs200950775		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr12:16516847C>T	ENST00000396209.1	+	4	483	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	MGST1_ENST00000396207.1_Missense_Mutation_p.R114W|MGST1_ENST00000396210.3_Missense_Mutation_p.R114W|MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000010404.2_Missense_Mutation_p.R114W|MGST1_ENST00000535309.1_Intron	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	114					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.R114W(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TGTCGGAGCACGGATCTACCA	0.448																																						ENST00000396209.1																			1	Substitution - Missense(1)	p.R114W(1)	endometrium(1)	endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(340-342)Cgg>Tgg		microsomal glutathione S-transferase 1	Glutathione(DB00143)						214.0	195.0	201.0					12																	16516847		2203	4300	6503	SO:0001583	missense	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16516847C>T	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.340C>T	12.37:g.16516847C>T	ENSP00000379512:p.Arg114Trp					MGST1_ENST00000396207.1_Missense_Mutation_p.R114W|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000010404.2_Missense_Mutation_p.R114W|MGST1_ENST00000396210.3_Missense_Mutation_p.R114W|MGST1_ENST00000540056.1_3'UTR	p.R114W	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN			4	483	+		Hepatocellular(102;0.121)	114					A8K533|G5EA53	Missense_Mutation	SNP	ENST00000396209.1	37	c.340C>T	CCDS8677.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040721	0.75732	.	.	ENSG00000008394	ENST00000010404;ENST00000543076;ENST00000396210;ENST00000396209;ENST00000396207	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.27	4.34	0.51931	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94571	0.8251	M	0.93550	3.43	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.95017	0.8157	10	0.87932	D	0	-2.4241	12.5477	0.56210	0.3382:0.6618:0.0:0.0	.	114	P10620	MGST1_HUMAN	W	114;78;114;114;114	ENSP00000010404:R114W;ENSP00000442767:R78W;ENSP00000379513:R114W;ENSP00000379512:R114W;ENSP00000379510:R114W	ENSP00000010404:R114W	R	+	1	2	MGST1	16408114	0.996000	0.38824	1.000000	0.80357	0.960000	0.62799	3.290000	0.51755	2.739000	0.93911	0.655000	0.94253	CGG		0.448	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		8	179	0	0	0	1	0	8	179				
KRTAP4-5	85289	broad.mit.edu	37	17	39305619	39305619	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr17:39305619G>T	ENST00000343246.4	-	1	435	c.401C>A	c.(400-402)tCt>tAt	p.S134Y		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	134	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S134Y(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ttcacagcaagaggggtggca	0.637																																						ENST00000343246.4																			2	Substitution - Missense(2)	p.S134Y(2)	lung(1)|central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(400-402)tCt>tAt		keratin associated protein 4-5							22.0	21.0	22.0					17																	39305619		2194	4283	6477	SO:0001583	missense	85289					keratin filament		g.chr17:39305619G>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.401C>A	17.37:g.39305619G>T	ENSP00000340546:p.Ser134Tyr						p.S134Y	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	435	-		Breast(137;0.000496)	139			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.401C>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	7.535	0.659572	0.14645	.	.	ENSG00000198271	ENST00000343246	T	0.01446	4.88	3.31	-2.73	0.05950	.	0.818375	0.09819	U	0.751710	T	0.08626	0.0214	M	0.94021	3.485	0.09310	N	1	P	0.48998	0.918	P	0.49853	0.624	T	0.17531	-1.0366	10	0.52906	T	0.07	.	14.3902	0.66973	0.0:0.5611:0.4389:0.0	.	139	Q9BYR2	KRA45_HUMAN	Y	134	ENSP00000340546:S134Y	ENSP00000340546:S134Y	S	-	2	0	KRTAP4-5	36559145	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.079000	0.03410	-0.156000	0.11079	0.563000	0.77884	TCT		0.637	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			3	15	1	0	0.00024832	1	0.000252754	3	15				
DAXX	1616	broad.mit.edu	37	6	33287453	33287453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr6:33287453delA	ENST00000374542.5	-	6	1848	c.1644delT	c.(1642-1644)aatfs	p.N548fs	ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Frame_Shift_Del_p.N473fs|DAXX_ENST00000266000.6_Frame_Shift_Del_p.N548fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	548	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCTGTTCTCCATTGCTTTCAG	0.532			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1642-1644)aafs		death-domain associated protein							103.0	96.0	98.0					6																	33287453		2203	4300	6503	SO:0001589	frameshift_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287453delA	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1644delT	6.37:g.33287453delA	ENSP00000363668:p.Asn548fs					DAXX_ENST00000266000.6_Frame_Shift_Del_p.N548fs|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Frame_Shift_Del_p.N473fs	p.N548fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			6	1848	-			548			Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Frame_Shift_Del	DEL	ENST00000374542.5	37	c.1644delT	CCDS4776.1																																																																																				0.532	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			35	103						35	103	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs530279026	byFrequency	TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr7:66762433delA	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		tctcaaaaagaaaaaaaaaaa	0.408													|||unknown(HR)	2771	0.553315	0.6127	0.5648	5008	,	,		17205	0.5159		0.5129	False		,,,				2504	0.545					ENST00000414507.1																			0																																																			0							g.chr7:66762433delA	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762433delA														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	4						3	4	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61727341	61727343	+	Intron	DEL	CTT	CTT	-	rs62640560|rs376532673|rs373015881		TCGA-2A-AAYU-01A-11D-A41K-08	TCGA-2A-AAYU-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3333fa05-d0eb-46bb-91af-2492f5b84e23	1695b0a1-b764-4797-83d5-4fcfed8fb4a7	g.chr11:61727341_61727343delCTT	ENST00000378043.4	+	9	1591				BEST1_ENST00000435278.2_Intron|BEST1_ENST00000526988.1_Intron|FTH1_ENST00000529191.1_In_Frame_Del_p.R57del|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000534553.1_Intron|FTH1_ENST00000529631.1_In_Frame_Del_p.K50del	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TTCTGTGGGACTTCTTCTGTCCC	0.557																																						ENST00000529191.1																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(169-174)agt>ag		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)		,	8,4256		3,2,2127				http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,	2.3	0.0		dbSNP_129	49	22,8232		7,8,4112	no	intron,intron	BEST1	NM_004183.3,NM_001139443.1	,	10,10,6239	A1A1,A1R,RR		0.2665,0.1876,0.2397	,	,		30,12488				SO:0001627	intron_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61727341_61727343delCTT	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.949-21CTT>-	11.37:g.61727344_61727346delCTT						BEST1_ENST00000378043.4_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000449131.2_Intron|FTH1_ENST00000529631.1_In_Frame_Del_p.K50del|BEST1_ENST00000526988.1_Intron|BEST1_ENST00000435278.2_Intron	p.RS57del			P02794	FRIH_HUMAN			2	376_378	-			0			Ferritin-like diiron.		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	In_Frame_Del	DEL	ENST00000378043.4	37	c.171_173delAAG	CCDS31580.1																																																																																				0.557	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		14	14						14	14	---	---	---	---
