#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
WBSCR28	135886	broad.mit.edu	37	7	73279335	73279335	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr7:73279335C>T	ENST00000320531.2	+	2	121	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	29						integral component of membrane (GO:0016021)		p.R29I(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGTTCAGAACCGAGATCACCT	0.507																																						ENST00000320531.2																			1	Substitution - Missense(1)	p.R29I(1)	lung(1)	breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(85-87)Cga>Tga		Williams-Beuren syndrome chromosome region 28							300.0	308.0	305.0					7																	73279335		1913	4126	6039	SO:0001587	stop_gained	135886					integral to membrane		g.chr7:73279335C>T	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.85C>T	7.37:g.73279335C>T	ENSP00000316775:p.Arg29*						p.R29*	NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN			2	121	+		Lung NSC(55;0.159)	29					Q6UE04|Q8NHP4	Nonsense_Mutation	SNP	ENST00000320531.2	37	c.85C>T	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632711	0.67015	.	.	ENSG00000175877	ENST00000320531	.	.	.	4.43	4.43	0.53597	.	0.000000	0.40222	N	0.001159	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.8465	12.4753	0.55809	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000316775:R29X	R	+	1	2	WBSCR28	72917271	1.000000	0.71417	0.989000	0.46669	0.464000	0.32679	1.845000	0.39279	2.335000	0.79485	0.555000	0.69702	CGA		0.507	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		114	560	0	0	0	1	0	114	560				
SOGA3	387104	broad.mit.edu	37	6	127796843	127796843	+	Silent	SNP	G	G	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr6:127796843G>A	ENST00000525778.1	-	6	3073	c.2328C>T	c.(2326-2328)ccC>ccT	p.P776P	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.P776P|SOGA3_ENST00000368268.2_Silent_p.P776P|SOGA3_ENST00000556132.1_Silent_p.P776P|SOGA3_ENST00000465909.2_Silent_p.P776P			Q5TF21	SOGA3_HUMAN	SOGA family member 3	776					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CGCCGCCGATGGGCCCTTCGC	0.726																																						ENST00000556132.1																			0											c.(2326-2328)ccC>ccT		SOGA family member 3							20.0	28.0	25.0					6																	127796843		2087	4208	6295	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127796843G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2328C>T	6.37:g.127796843G>A						SOGA3_ENST00000525778.1_Silent_p.P776P|SOGA3_ENST00000481848.2_Silent_p.P776P|SOGA3_ENST00000368268.2_Silent_p.P776P|SOGA3_ENST00000465909.2_Silent_p.P776P	p.P776P	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3192	-			776						Silent	SNP	ENST00000525778.1	37	c.2328C>T	CCDS43505.1																																																																																				0.726	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		24	50	0	0	0	1	0	24	50				
TMPRSS6	164656	broad.mit.edu	37	22	37485776	37485776	+	Silent	SNP	C	C	T			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr22:37485776C>T	ENST00000346753.3	-	7	821	c.705G>A	c.(703-705)ctG>ctA	p.L235L	TMPRSS6_ENST00000406725.1_Silent_p.L226L|TMPRSS6_ENST00000381792.2_Silent_p.L226L|TMPRSS6_ENST00000406856.1_Silent_p.L226L|TMPRSS6_ENST00000442782.2_Silent_p.L235L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	235	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		L -> P (in IRIDA; does not undergo proteolytic processing; loss of activity). {ECO:0000269|PubMed:22581667}.		angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGGCCCCTTCAGCCGGAGGA	0.667																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(676-678)ctG>ctA		transmembrane protease, serine 6							19.0	20.0	20.0					22																	37485776		2203	4298	6501	SO:0001819	synonymous_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37485776C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.705G>A	22.37:g.37485776C>T						TMPRSS6_ENST00000406725.1_Silent_p.L226L|TMPRSS6_ENST00000406856.1_Silent_p.L226L|TMPRSS6_ENST00000346753.3_Silent_p.L235L|TMPRSS6_ENST00000442782.2_Silent_p.L235L	p.L226L			Q8IU80	TMPS6_HUMAN			7	818	-			235			CUB 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	c.678G>A	CCDS13941.1																																																																																				0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		4	12	0	0	0	1	0	4	12				
PDE7B	27115	broad.mit.edu	37	6	136508198	136508198	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr6:136508198T>A	ENST00000308191.6	+	12	1373	c.1070T>A	c.(1069-1071)cTg>cAg	p.L357Q	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	357	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	AAATTTGAACTGGAAATCAGT	0.294																																						ENST00000308191.6																			0				breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1069-1071)cTg>cAg		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						83.0	90.0	88.0					6																	136508198		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136508198T>A	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1070T>A	6.37:g.136508198T>A	ENSP00000310661:p.Leu357Gln					RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	p.L357Q	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	12	1373	+	Colorectal(23;0.24)		357			Catalytic (By similarity).		Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.1070T>A	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907123	0.92107	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.80738	-1.41	5.77	5.77	0.91146	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.075441	0.53938	D	0.000047	D	0.90106	0.6909	M	0.91459	3.21	0.80722	D	1	D;D	0.71674	0.985;0.998	P;D	0.68039	0.773;0.955	D	0.92383	0.5915	10	0.87932	D	0	.	16.0954	0.81117	0.0:0.0:0.0:1.0	.	409;357	A1E5M1;Q9NP56	.;PDE7B_HUMAN	Q	357;493	ENSP00000310661:L357Q	ENSP00000310661:L357Q	L	+	2	0	PDE7B	136549891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.695000	0.84257	2.203000	0.70933	0.455000	0.32223	CTG		0.294	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			14	40	0	0	0	1	0	14	40				
NPBWR1	2831	broad.mit.edu	37	8	53852926	53852926	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr8:53852926C>A	ENST00000331251.3	+	1	1936	c.459C>A	c.(457-459)agC>agA	p.S153R		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	153					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCACCTACAGCGCCGCGCGCG	0.711																																						ENST00000331251.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17						c.(457-459)agC>agA		neuropeptides B/W receptor 1							14.0	16.0	15.0					8																	53852926		2172	4244	6416	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53852926C>A	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.459C>A	8.37:g.53852926C>A	ENSP00000330284:p.Ser153Arg						p.S153R	NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN			1	1936	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	153					Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.459C>A	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	C	3.580	-0.085825	0.07097	.	.	ENSG00000183729	ENST00000331251	T	0.32753	1.44	5.06	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.453060	0.17675	N	0.165829	T	0.05135	0.0137	N	0.00298	-1.69	0.26585	N	0.973301	B	0.02656	0.0	B	0.04013	0.001	T	0.38824	-0.9643	10	0.02654	T	1	.	3.9022	0.09166	0.183:0.3773:0.3531:0.0867	.	153	P48145	NPBW1_HUMAN	R	153	ENSP00000330284:S153R	ENSP00000330284:S153R	S	+	3	2	NPBWR1	54015479	0.924000	0.31332	0.666000	0.29783	0.975000	0.68041	-0.052000	0.11865	0.655000	0.30866	0.655000	0.94253	AGC		0.711	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		4	19	1	0	0.150653	1	0.150653	4	19				
AKAP17A	8227	broad.mit.edu	37	X	1714353	1714353	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chrX:1714353A>C	ENST00000313871.3	+	3	1035	c.839A>C	c.(838-840)gAa>gCa	p.E280A	AKAP17A_ENST00000381261.3_Missense_Mutation_p.E280A	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	280					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AAGCTTCAGGAACTGGAGCAG	0.527																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(838-840)gAa>gCa		A kinase (PRKA) anchor protein 17A							252.0	268.0	262.0					X																	1714353		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1714353A>C	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.839A>C	X.37:g.1714353A>C	ENSP00000324827:p.Glu280Ala					AKAP17A_ENST00000381261.3_Missense_Mutation_p.E280A	p.E280A	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			3	1035	+			280					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.839A>C	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	a	2.147	-0.395430	0.04899	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.60920	1.47;0.15	2.43	1.18	0.20946	.	0.000000	0.64402	U	0.000001	T	0.47967	0.1474	.	.	.	0.09310	N	1	P;P	0.47962	0.684;0.903	B;P	0.52554	0.376;0.702	T	0.44034	-0.9354	9	0.08837	T	0.75	.	7.242	0.26102	0.8812:0.0:0.1188:0.0	.	280;280	Q02040-3;Q02040	.;AK17A_HUMAN	A	280	ENSP00000324827:E280A;ENSP00000370660:E280A	ENSP00000324827:E280A	E	+	2	0	AKAP17A	1674353	1.000000	0.71417	0.009000	0.14445	0.404000	0.30871	6.187000	0.72039	0.012000	0.14892	0.084000	0.15446	GAA		0.527	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		54	148	0	0	0	1	0	54	148				
SCARF1	8578	broad.mit.edu	37	17	1538386	1538386	+	Missense_Mutation	SNP	G	G	A	rs144425748		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr17:1538386G>A	ENST00000263071.4	-	11	2208	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.A634V	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	720	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.A720E(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGCTTCCGCCTGGCCTTT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17511	0.0		0.0	False		,,,				2504	0.0					ENST00000263071.4																			1	Substitution - Missense(1)	p.A720E(1)	endometrium(1)	cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2158-2160)gCg>gTg		scavenger receptor class F, member 1			VAL/ALA,,VAL/ALA	0,4406		0,0,2203	34.0	33.0	33.0		2159,,1901	1.8	0.7	17	dbSNP_134	33	19,8581	13.3+/-46.6	0,19,4281	yes	missense,utr-3,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	64,,64	0,19,6484	AA,AG,GG		0.2209,0.0,0.1461	possibly-damaging,,possibly-damaging	720/831,,634/745	1538386	19,12987	2203	4300	6503	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538386G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.2159C>T	17.37:g.1538386G>A	ENSP00000263071:p.Ala720Val					SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.A634V	p.A720V	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2208	-			720			Gly-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2159C>T	CCDS11007.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	12.26	1.885058	0.33255	0.0	0.002209	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.21543	2.0;2.67	5.13	1.83	0.25207	.	0.649781	0.12604	N	0.454407	T	0.17662	0.0424	M	0.63428	1.95	0.09310	N	1	P;P	0.52170	0.951;0.918	B;B	0.40134	0.32;0.264	T	0.24154	-1.0168	10	0.52906	T	0.07	-0.0666	2.1548	0.03809	0.157:0.1202:0.4504:0.2724	.	634;720	Q14162-2;Q14162	.;SREC_HUMAN	V	720;634	ENSP00000263071:A720V;ENSP00000323964:A634V	ENSP00000263071:A720V	A	-	2	0	SCARF1	1485136	0.997000	0.39634	0.653000	0.29593	0.559000	0.35586	1.056000	0.30480	0.501000	0.28013	0.550000	0.68814	GCG		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		5	34	0	0	0	1	0	5	34				
ZNF286B	729288	broad.mit.edu	37	17	18565373	18565373	+	Silent	SNP	A	A	G			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr17:18565373A>G	ENST00000545289.1	-	5	1696	c.1446T>C	c.(1444-1446)ctT>ctC	p.L482L	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(1)|lung(1)	2						GATGTTGAATAAGAGCTGATG	0.388																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(1444-1446)ctT>ctC		zinc finger protein 286B							164.0	151.0	155.0					17																	18565373		692	1591	2283	SO:0001819	synonymous_variant	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565373A>G		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1446T>C	17.37:g.18565373A>G							p.L482L	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	1696	-			482						Silent	SNP	ENST00000545289.1	37	c.1446T>C	CCDS58523.1																																																																																				0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		4	34	0	0	0	1	0	4	34				
THAP10	56906	broad.mit.edu	37	15	71184271	71184271	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr15:71184271T>A	ENST00000249861.4	-	1	853	c.341A>T	c.(340-342)gAg>gTg	p.E114V	LRRC49_ENST00000443425.2_5'Flank|LRRC49_ENST00000260382.5_5'Flank|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_5'Flank	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	114							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCCTGGAGCTCTCCTCGCGT	0.682																																						ENST00000249861.4																			0				NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(340-342)gAg>gTg		THAP domain containing 10							34.0	35.0	35.0					15																	71184271		2199	4297	6496	SO:0001583	missense	56906						DNA binding|metal ion binding	g.chr15:71184271T>A	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.341A>T	15.37:g.71184271T>A	ENSP00000249861:p.Glu114Val					LRRC49_ENST00000544974.2_Intron	p.E114V	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN			1	853	-			114					B2R8R0	Missense_Mutation	SNP	ENST00000249861.4	37	c.341A>T	CCDS10237.1	.	.	.	.	.	.	.	.	.	.	T	7.777	0.708763	0.15239	.	.	ENSG00000129028	ENST00000249861	.	.	.	2.23	-1.76	0.08006	.	.	.	.	.	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.17806	-1.0357	8	0.33141	T	0.24	.	2.804	0.05422	0.0:0.2855:0.2489:0.4656	.	114	Q9P2Z0	THA10_HUMAN	V	114	.	ENSP00000249861:E114V	E	-	2	0	THAP10	68971325	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.713000	0.05007	-0.618000	0.05656	-0.429000	0.05907	GAG		0.682	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2	NM_020147		13	10	0	0	0	1	0	13	10				
GK2	2712	broad.mit.edu	37	4	80328887	80328887	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr4:80328887C>A	ENST00000358842.3	-	1	485	c.468G>T	c.(466-468)tgG>tgT	p.W156C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGTCAAGCATCCAACGAAGTT	0.413																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(466-468)tgG>tgT		glycerol kinase 2							137.0	132.0	134.0					4																	80328887		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328887C>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.468G>T	4.37:g.80328887C>A	ENSP00000351706:p.Trp156Cys						p.W156C	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	485	-			156					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.468G>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957103	0.53293	.	.	ENSG00000196475	ENST00000358842	D	0.85861	-2.04	3.76	3.76	0.43208	Carbohydrate kinase, FGGY, conserved site (1);Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95599	0.8661	10	0.87932	D	0	-20.143	13.8928	0.63750	0.0:1.0:0.0:0.0	.	156	Q14410	GLPK2_HUMAN	C	156	ENSP00000351706:W156C	ENSP00000351706:W156C	W	-	3	0	GK2	80547911	1.000000	0.71417	0.957000	0.39632	0.773000	0.43773	7.259000	0.78381	2.418000	0.82041	0.585000	0.79938	TGG		0.413	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		20	98	1	0	1.56452e-12	1	1.84062e-12	20	98				
SETD1A	9739	broad.mit.edu	37	16	30970090	30970090	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr16:30970090C>G	ENST00000262519.8	+	2	724	c.38C>G	c.(37-39)cCg>cGg	p.P13R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	13					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGAAGGCCCCGAGCTTCCAG	0.577																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(37-39)cCg>cGg		SET domain containing 1A							102.0	99.0	100.0					16																	30970090		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30970090C>G	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.38C>G	16.37:g.30970090C>G	ENSP00000262519:p.Pro13Arg						p.P13R	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			2	724	+			13					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.38C>G	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952574	0.53293	.	.	ENSG00000099381	ENST00000262519;ENST00000452917;ENST00000449974	D	0.93247	-3.19	5.1	5.1	0.69264	.	0.199282	0.33938	U	0.004414	D	0.92004	0.7467	N	0.16790	0.44	0.34100	D	0.661803	D	0.71674	0.998	P	0.58210	0.835	D	0.94788	0.7959	10	0.54805	T	0.06	.	15.45	0.75265	0.0:1.0:0.0:0.0	.	13	O15047	SET1A_HUMAN	R	13	ENSP00000262519:P13R	ENSP00000262519:P13R	P	+	2	0	SETD1A	30877591	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.932000	0.63476	2.369000	0.80426	0.655000	0.94253	CCG		0.577	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		19	84	0	0	0	1	0	19	84				
DNAJC8	22826	broad.mit.edu	37	1	28559481	28559481	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr1:28559481G>A	ENST00000263697.4	-	1	55	c.29C>T	c.(28-30)tCa>tTa	p.S10L	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	10					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGCCGCCTGAAGTCCCGCT	0.627																																						ENST00000263697.4																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(28-30)tCa>tTa		DnaJ (Hsp40) homolog, subfamily C, member 8							46.0	56.0	53.0					1																	28559481		2107	4217	6324	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28559481G>A	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.29C>T	1.37:g.28559481G>A	ENSP00000263697:p.Ser10Leu					DNAJC8_ENST00000489277.1_5'UTR	p.S10L	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	1	55	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	10					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.29C>T	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067141	0.55539	.	.	ENSG00000126698	ENST00000263697	T	0.63255	-0.03	4.48	4.48	0.54585	.	0.447691	0.23345	N	0.049182	T	0.54447	0.1859	L	0.43152	1.355	0.45621	D	0.99855	B	0.12630	0.006	B	0.14578	0.011	T	0.52155	-0.8613	10	0.38643	T	0.18	-12.7911	14.5176	0.67830	0.0:0.0:1.0:0.0	.	10	O75937	DNJC8_HUMAN	L	10	ENSP00000263697:S10L	ENSP00000263697:S10L	S	-	2	0	DNAJC8	28432068	0.997000	0.39634	0.987000	0.45799	0.969000	0.65631	2.552000	0.45828	2.482000	0.83794	0.655000	0.94253	TCA		0.627	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		8	46	0	0	0	1	0	8	46				
ZSCAN5A	79149	broad.mit.edu	37	19	56733610	56733610	+	Silent	SNP	G	G	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr19:56733610G>A	ENST00000587340.1	-	7	1520	c.825C>T	c.(823-825)tgC>tgT	p.C275C	ZSCAN5A_ENST00000391713.1_Silent_p.C275C|ZSCAN5A_ENST00000592355.1_Silent_p.C274C|ZSCAN5A_ENST00000587492.1_Silent_p.C129C|ZSCAN5A_ENST00000254165.3_Silent_p.C158C			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	275					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCCACAACGCAGGCAGAAG	0.527																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(823-825)tgC>tgT		zinc finger and SCAN domain containing 5A							107.0	107.0	107.0					19																	56733610		2203	4298	6501	SO:0001819	synonymous_variant	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733610G>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.825C>T	19.37:g.56733610G>A						ZSCAN5A_ENST00000587492.1_Silent_p.C129C|ZSCAN5A_ENST00000592355.1_Silent_p.C274C|ZSCAN5A_ENST00000254165.3_Silent_p.C158C|ZSCAN5A_ENST00000391713.1_Silent_p.C275C	p.C275C			Q9BUG6	ZSA5A_HUMAN			7	1520	-			275					B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	ENST00000587340.1	37	c.825C>T	CCDS12941.1																																																																																				0.527	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		20	101	0	0	0	1	0	20	101				
ZNF654	55279	broad.mit.edu	37	3	88188456	88188456	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr3:88188456G>A	ENST00000309495.5	+	0	203				CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CCAAGGCATCGTTGTATGTTA	0.398																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12								zinc finger protein 654							73.0	67.0	69.0					3																	88188456		1899	4123	6022			55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88188456G>A	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.-5G>A	3.37:g.88188456G>A						CGGBP1_ENST00000462901.1_Intron		NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	0	203	+		Lung NSC(201;0.0283)						Q9H791|Q9NV14	Translation_Start_Site	SNP	ENST00000309495.5	37		CCDS46874.1																																																																																				0.398	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		5	14	0	0	0	1	0	5	14				
RALYL	138046	broad.mit.edu	37	8	85097248	85097248	+	Intron	SNP	C	C	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr8:85097248C>A	ENST00000521268.1	+	1	1082				RALYL_ENST00000518566.1_Intron|RALYL_ENST00000522455.1_Intron|RALYL_ENST00000517638.1_Splice_Site_p.R5R|RALYL_ENST00000521695.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTAAACGACGCAGTAGGTCCT	0.522																																						ENST00000517638.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.e1+1		RALY RNA binding protein-like							102.0	110.0	107.0					8																	85097248		2101	4231	6332	SO:0001627	intron_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85097248C>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.-24+589C>A	8.37:g.85097248C>A						RALYL_ENST00000522455.1_Intron|RALYL_ENST00000521695.1_Intron|RALYL_ENST00000518566.1_Intron|RALYL_ENST00000521268.1_Intron	p.R5_splice	NM_001100391.1	NP_001093861.1	Q86SE5	RALYL_HUMAN			1	139	+			0					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Splice_Site	SNP	ENST00000521268.1	37	c.16_splice	CCDS55253.1																																																																																				0.522	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			20	35	1	0	3.51602e-12	1	4.05694e-12	20	35				
NBAS	51594	broad.mit.edu	37	2	15307443	15307443	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr2:15307443T>A	ENST00000281513.5	-	52	6870	c.6845A>T	c.(6844-6846)aAt>aTt	p.N2282I	NBAS_ENST00000441750.1_Missense_Mutation_p.N2162I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2282					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATTGGAATCATTCACCTTCAA	0.517																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6844-6846)aAt>aTt		neuroblastoma amplified sequence							58.0	52.0	54.0					2																	15307443		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15307443T>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6845A>T	2.37:g.15307443T>A	ENSP00000281513:p.Asn2282Ile					NBAS_ENST00000441750.1_Missense_Mutation_p.N2162I	p.N2282I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			52	6870	-			2282					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6845A>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.91|14.91	2.676304|2.676304	0.47886|0.47886	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000433283	.|T;T	.|0.32515	.|1.45;1.45	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.487586	.|0.25009	.|N	.|0.033842	T|T	0.34803|0.34803	0.0910|0.0910	L|L	0.47716|0.47716	1.5|1.5	0.31887|0.31887	N|N	0.617667|0.617667	.|D;B	.|0.54207	.|0.965;0.242	.|P;B	.|0.49637	.|0.617;0.032	T|T	0.50890|0.50890	-0.8774|-0.8774	5|10	.|0.87932	.|D	.|0	.|.	9.2476|9.2476	0.37536|0.37536	0.0:0.0802:0.0:0.9198|0.0:0.0802:0.0:0.9198	.|.	.|2162;2282	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	L|I	1330|2162;2282;95	.|ENSP00000413201:N2162I;ENSP00000281513:N2282I	.|ENSP00000281513:N2282I	M|N	-|-	1|2	0|0	NBAS|NBAS	15224894|15224894	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.083000|0.083000	0.17756|0.17756	3.910000|3.910000	0.56371|0.56371	2.062000|2.062000	0.61559|0.61559	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.517	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		8	37	0	0	0	1	0	8	37				
SLC39A8	64116	broad.mit.edu	37	4	103189158	103189158	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr4:103189158T>A	ENST00000394833.2	-	6	1395	c.919A>T	c.(919-921)Ata>Tta	p.I307L	SLC39A8_ENST00000424970.2_Missense_Mutation_p.I307L|SLC39A8_ENST00000356736.4_Missense_Mutation_p.I307L	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	307					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CAGAGCGTTATCATCCAGGCA	0.468																																						ENST00000424970.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(919-921)Ata>Tta		solute carrier family 39 (zinc transporter), member 8							171.0	151.0	158.0					4																	103189158		2203	4300	6503	SO:0001583	missense	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103189158T>A		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.919A>T	4.37:g.103189158T>A	ENSP00000378310:p.Ile307Leu					SLC39A8_ENST00000394833.2_Missense_Mutation_p.I307L|SLC39A8_ENST00000356736.4_Missense_Mutation_p.I307L	p.I307L	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	7	1234	-		Hepatocellular(203;0.217)	307					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	c.919A>T	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455321	0.84209	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.40225	1.04;1.04;1.04	5.37	2.93	0.34026	.	0.202765	0.47093	D	0.000246	T	0.52289	0.1725	M	0.68728	2.09	0.49389	D	0.999781	P;D;P	0.55385	0.948;0.971;0.802	P;P;P	0.57057	0.612;0.812;0.477	T	0.50792	-0.8786	10	0.72032	D	0.01	-35.4236	8.1093	0.30905	0.0:0.2418:0.0:0.7582	.	307;307;240	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	L	307	ENSP00000394548:I307L;ENSP00000349174:I307L;ENSP00000378310:I307L	ENSP00000349174:I307L	I	-	1	0	SLC39A8	103408181	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.723000	0.47277	0.360000	0.24265	0.528000	0.53228	ATA		0.468	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		30	56	0	0	0	1	0	30	56				
GRM1	2911	broad.mit.edu	37	6	146350748	146350748	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr6:146350748C>T	ENST00000282753.1	+	1	330	c.95C>T	c.(94-96)gCg>gTg	p.A32V	GRM1_ENST00000361719.2_Missense_Mutation_p.A32V|GRM1_ENST00000507907.1_Missense_Mutation_p.A32V|GRM1_ENST00000355289.4_Missense_Mutation_p.A32V|GRM1_ENST00000392299.2_Missense_Mutation_p.A32V|GRM1_ENST00000492807.2_Missense_Mutation_p.A32V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	32					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTGGCAGGAGCGTCGTCTCAG	0.582																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(94-96)gCg>gTg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						92.0	106.0	101.0					6																	146350748		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350748C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.95C>T	6.37:g.146350748C>T	ENSP00000282753:p.Ala32Val					GRM1_ENST00000282753.1_Missense_Mutation_p.A32V|GRM1_ENST00000355289.4_Missense_Mutation_p.A32V|GRM1_ENST00000507907.1_Missense_Mutation_p.A32V|GRM1_ENST00000492807.2_Missense_Mutation_p.A32V|GRM1_ENST00000361719.2_Missense_Mutation_p.A32V	p.A32V			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	565	+		Ovarian(120;0.0387)	32					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.95C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725366	0.48833	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87966	-2.29;-2.32;-2.32;-2.29;-2.32;-2.32	5.57	4.66	0.58398	.	0.228739	0.45606	D	0.000346	T	0.75496	0.3857	L	0.31752	0.955	0.47245	D	0.99936	P;P;P;P	0.45768	0.777;0.509;0.819;0.866	B;B;B;B	0.39465	0.3;0.134;0.158;0.3	T	0.79259	-0.1877	10	0.45353	T	0.12	.	18.0581	0.89369	0.0:0.8696:0.1304:0.0	.	32;32;27;32	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	V	32	ENSP00000354896:A32V;ENSP00000376119:A32V;ENSP00000424095:A32V;ENSP00000282753:A32V;ENSP00000347437:A32V;ENSP00000425599:A32V	ENSP00000282753:A32V	A	+	2	0	GRM1	146392441	1.000000	0.71417	0.967000	0.41034	0.862000	0.49288	3.838000	0.55828	2.619000	0.88677	0.561000	0.74099	GCG		0.582	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		59	99	0	0	0	1	0	59	99				
CNTN5	53942	broad.mit.edu	37	11	99827594	99827594	+	Missense_Mutation	SNP	C	C	T	rs190220140	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr11:99827594C>T	ENST00000524871.1	+	8	1020	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	CNTN5_ENST00000528682.1_Missense_Mutation_p.R244W|CNTN5_ENST00000527185.1_Missense_Mutation_p.R244W|CNTN5_ENST00000279463.3_Missense_Mutation_p.R244W|CNTN5_ENST00000418526.2_Missense_Mutation_p.R170W	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	244	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAAGACAGCCGGCGGTTCAT	0.403													C|||	3	0.000599042	0.0	0.0	5008	,	,		15060	0.001		0.0	False		,,,				2504	0.002					ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(730-732)Cgg>Tgg		contactin 5							90.0	85.0	87.0					11																	99827594		1844	4083	5927	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827594C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.730C>T	11.37:g.99827594C>T	ENSP00000435637:p.Arg244Trp					CNTN5_ENST00000527185.1_Missense_Mutation_p.R244W|CNTN5_ENST00000279463.3_Missense_Mutation_p.R244W|CNTN5_ENST00000418526.2_Missense_Mutation_p.R170W|CNTN5_ENST00000528682.1_Missense_Mutation_p.R244W	p.R244W	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	8	1020	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	244			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.730C>T	CCDS53696.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.8	4.057752	0.76074	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.47	5.47	0.80525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.062577	0.64402	D	0.000004	D	0.94364	0.8188	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95775	0.8812	10	0.87932	D	0	.	14.1978	0.65682	0.159:0.841:0.0:0.0	.	244;170;244	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	W	244;244;244;170;244	ENSP00000433575:R244W;ENSP00000436185:R244W;ENSP00000435637:R244W;ENSP00000393229:R170W;ENSP00000279463:R244W	ENSP00000279463:R244W	R	+	1	2	CNTN5	99332804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.468000	0.60162	2.711000	0.92665	0.585000	0.79938	CGG		0.403	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		12	33	0	0	0	1	0	12	33				
ATAD3C	219293	broad.mit.edu	37	1	1390875	1390875	+	Silent	SNP	C	C	T	rs1781147	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr1:1390875C>T	ENST00000378785.2	+	5	1409	c.414C>T	c.(412-414)gaC>gaT	p.D138D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	138							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GACCCCAGGACGTGCTGGAGG	0.677													c|||	2129	0.42512	0.528	0.4323	5008	,	,		12946	0.499		0.1879	False		,,,				2504	0.4489					ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(412-414)gaC>gaT		ATPase family, AAA domain containing 3C		C		656,728		164,328,200	61.0	62.0	62.0		414	-1.4	0.2	1	dbSNP_89	62	617,2565		72,473,1046	no	coding-synonymous	ATAD3C	NM_001039211.2		236,801,1246	TT,TC,CC		19.3903,47.3988,27.88		138/412	1390875	1273,3293	692	1591	2283	SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1390875C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.414C>T	1.37:g.1390875C>T							p.D138D	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	5	1409	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	138					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.414C>T	CCDS44039.1																																																																																				0.677	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		6	29	0	0	0	1	0	6	29				
DOCK6	57572	broad.mit.edu	37	19	11319762	11319762	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr19:11319762T>A	ENST00000294618.7	-	38	4780	c.4769A>T	c.(4768-4770)cAg>cTg	p.Q1590L	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.Q929L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1590	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGGTGAGCCCTGGTAGCCCCG	0.657																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4768-4770)cAg>cTg		dedicator of cytokinesis 6							18.0	23.0	21.0					19																	11319762		1988	4150	6138	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11319762T>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4769A>T	19.37:g.11319762T>A	ENSP00000294618:p.Gln1590Leu					CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.Q929L	p.Q1590L	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			38	4780	-			1590			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4769A>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	t	23.5	4.419321	0.83559	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.25250	2.55;1.81	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.85373	2.75	0.80722	D	1	D;P	0.67145	0.996;0.754	D;P	0.67900	0.954;0.476	T	0.62006	-0.6945	10	0.87932	D	0	-34.6928	13.9587	0.64166	0.0:0.0:0.0:1.0	.	929;1590	C9IZV6;Q96HP0	.;DOCK6_HUMAN	L	1590;929	ENSP00000294618:Q1590L;ENSP00000321556:Q929L	ENSP00000294618:Q1590L	Q	-	2	0	DOCK6	11180762	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.824000	0.86668	2.014000	0.59158	0.529000	0.55759	CAG		0.657	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		9	7	0	0	0	1	0	9	7				
AP1B1	162	broad.mit.edu	37	22	29737521	29737521	+	Missense_Mutation	SNP	C	C	T	rs149960917	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr22:29737521C>T	ENST00000405198.1	-	12	1796	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	AP1B1_ENST00000317368.7_Missense_Mutation_p.V589M|AP1B1_ENST00000357586.2_Missense_Mutation_p.V589M|AP1B1_ENST00000415447.1_Missense_Mutation_p.V589M|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000402502.1_Missense_Mutation_p.V589M|AP1B1_ENST00000432560.2_Missense_Mutation_p.V589M|AP1B1_ENST00000356015.2_Missense_Mutation_p.V589M			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	589	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCTTGTGCACGACGCCCCGG	0.627													C|||	3	0.000599042	0.0	0.0	5008	,	,		17989	0.0		0.003	False		,,,				2504	0.0					ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1765-1767)Gtg>Atg		adaptor-related protein complex 1, beta 1 subunit		C	MET/VAL,MET/VAL,MET/VAL	1,4405	4.2+/-10.8	0,1,2202	65.0	57.0	59.0		1765,1765,1765	5.6	1.0	22	dbSNP_134	59	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	AP1B1	NM_001127.3,NM_001166019.1,NM_145730.2	21,21,21	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign,benign,benign	589/950,589/920,589/940	29737521	5,13001	2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29737521C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1765G>A	22.37:g.29737521C>T	ENSP00000384194:p.Val589Met					AP1B1_ENST00000317368.7_Missense_Mutation_p.V589M|AP1B1_ENST00000432560.2_Missense_Mutation_p.V589M|AP1B1_ENST00000356015.2_Missense_Mutation_p.V589M|AP1B1_ENST00000415447.1_Missense_Mutation_p.V589M|AP1B1_ENST00000405198.1_Missense_Mutation_p.V589M|AP1B1_ENST00000402502.1_Missense_Mutation_p.V589M	p.V589M	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			13	1951	-			589			Pro-rich (stalk region).		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.1765G>A	CCDS13855.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.67	2.901625	0.52227	2.27E-4	4.65E-4	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.24538	1.9;1.89;1.88;1.9;1.85;1.88;1.88	5.6	5.6	0.85130	.	0.173853	0.51477	D	0.000091	T	0.24699	0.0599	L	0.50333	1.59	0.42524	D	0.993015	P;B;B;B;B	0.37525	0.598;0.169;0.303;0.201;0.426	B;B;B;B;B	0.34931	0.139;0.128;0.128;0.06;0.192	T	0.02546	-1.1143	10	0.32370	T	0.25	-24.1456	14.6413	0.68726	0.0:0.8535:0.1465:0.0	.	142;589;589;589;589	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	M	589	ENSP00000350199:V589M;ENSP00000348297:V589M;ENSP00000400065:V589M;ENSP00000384194:V589M;ENSP00000319361:V589M;ENSP00000386071:V589M;ENSP00000387612:V589M	ENSP00000319361:V589M	V	-	1	0	AP1B1	28067521	0.999000	0.42202	0.959000	0.39883	0.922000	0.55478	3.490000	0.53245	2.629000	0.89072	0.655000	0.94253	GTG		0.627	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		7	61	0	0	0	1	0	7	61				
PPIL1	51645	broad.mit.edu	37	6	36839520	36839520	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr6:36839520A>T	ENST00000373699.5	-	2	436	c.185T>A	c.(184-186)aTc>aAc	p.I62N	C6orf89_ENST00000510325.2_5'Flank|C6orf89_ENST00000359359.2_5'Flank	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	62	Cyclosporin A binding.|PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						ACCTCCTTGGATCATGAAGTC	0.398																																						ENST00000373699.5																			0				lung(1)|ovary(1)	2						c.(184-186)aTc>aAc		peptidylprolyl isomerase (cyclophilin)-like 1							195.0	185.0	189.0					6																	36839520		2203	4300	6503	SO:0001583	missense	51645				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr6:36839520A>T	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.185T>A	6.37:g.36839520A>T	ENSP00000362803:p.Ile62Asn						p.I62N	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN			2	436	-			62			Cyclosporin A binding.|PPIase cyclophilin-type.		O15001|Q5TDC9	Missense_Mutation	SNP	ENST00000373699.5	37	c.185T>A	CCDS4826.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599944	0.87055	.	.	ENSG00000137168	ENST00000373699	T	0.28666	1.6	5.4	5.4	0.78164	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.058791	0.64402	D	0.000003	T	0.62636	0.2444	H	0.97415	4	0.58432	D	0.999996	D	0.67145	0.996	D	0.68765	0.96	T	0.77230	-0.2664	10	0.87932	D	0	.	13.6739	0.62443	1.0:0.0:0.0:0.0	.	62	Q9Y3C6	PPIL1_HUMAN	N	62	ENSP00000362803:I62N	ENSP00000362803:I62N	I	-	2	0	PPIL1	36947498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.159000	0.67721	0.533000	0.62120	ATC		0.398	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			41	54	0	0	0	1	0	41	54				
SLX4	84464	broad.mit.edu	37	16	3633188	3633188	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr16:3633188G>A	ENST00000294008.3	-	14	5703	c.5063C>T	c.(5062-5064)cCa>cTa	p.P1688L	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1688	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATTGAGGCCTGGAGGTGCCTC	0.587								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(5062-5064)cCa>cTa	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							148.0	134.0	139.0					16																	3633188		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3633188G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5063C>T	16.37:g.3633188G>A	ENSP00000294008:p.Pro1688Leu					RP11-461A8.1_ENST00000573982.1_lincRNA	p.P1688L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			14	5703	-			1688			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.5063C>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661994	0.14645	.	.	ENSG00000188827	ENST00000294008	T	0.01106	5.33	5.21	-3.95	0.04118	.	1.642900	0.03452	N	0.210897	T	0.00552	0.0018	N	0.01668	-0.77	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47535	-0.9110	10	0.06099	T	0.92	.	8.8271	0.35061	0.6106:0.1123:0.2771:0.0	.	1688	Q8IY92	SLX4_HUMAN	L	1688	ENSP00000294008:P1688L	ENSP00000294008:P1688L	P	-	2	0	SLX4	3573189	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.931000	0.03967	-0.705000	0.05035	0.655000	0.94253	CCA		0.587	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		44	60	0	0	0	1	0	44	60				
TPCN1	53373	broad.mit.edu	37	12	113707646	113707646	+	Silent	SNP	C	C	T			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr12:113707646C>T	ENST00000335509.6	+	7	1058	c.744C>T	c.(742-744)atC>atT	p.I248I	TPCN1_ENST00000541517.1_Silent_p.I320I|TPCN1_ENST00000550785.1_Silent_p.I320I|TPCN1_ENST00000392569.4_Silent_p.I180I	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	248					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCTTTGCCATCCTCGGTGAGT	0.567																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(958-960)atC>atT		two pore segment channel 1							122.0	95.0	104.0					12																	113707646		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113707646C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.744C>T	12.37:g.113707646C>T						TPCN1_ENST00000541517.1_Silent_p.I320I|TPCN1_ENST00000392569.4_Silent_p.I180I|TPCN1_ENST00000335509.6_Silent_p.I248I	p.I320I	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			8	1129	+			248					A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.960C>T	CCDS31908.1																																																																																				0.567	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		18	74	0	0	0	1	0	18	74				
FBXO24	26261	broad.mit.edu	37	7	100192027	100192027	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr7:100192027T>C	ENST00000241071.6	+	6	1137	c.815T>C	c.(814-816)tTg>tCg	p.L272S	FBXO24_ENST00000465843.1_Missense_Mutation_p.L258S|FBXO24_ENST00000468962.1_Missense_Mutation_p.L260S|FBXO24_ENST00000427939.2_Missense_Mutation_p.L310S|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.L258S|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	272					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATCTACTCTTTGGTAGTGAAT	0.557																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(814-816)tTg>tCg		F-box protein 24							108.0	101.0	103.0					7																	100192027		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100192027T>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.815T>C	7.37:g.100192027T>C	ENSP00000241071:p.Leu272Ser					PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.L310S|FBXO24_ENST00000468962.1_Missense_Mutation_p.L260S|FBXO24_ENST00000360609.2_Missense_Mutation_p.L258S|FBXO24_ENST00000465843.1_Missense_Mutation_p.L258S|PCOLCE-AS1_ENST00000544873.1_RNA	p.L272S	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			6	1137	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		272					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.815T>C	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046474	0.55110	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.80480	-1.38;0.18;0.18;-1.38;-1.38	4.73	4.73	0.59995	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.49916	D	0.000139	T	0.67552	0.2905	N	0.08118	0	0.45015	D	0.998036	P;P;P;P	0.48407	0.91;0.91;0.91;0.573	P;P;P;B	0.45099	0.469;0.469;0.469;0.23	T	0.74734	-0.3565	10	0.72032	D	0.01	-3.9157	12.5216	0.56062	0.0:0.0:0.0:1.0	.	260;310;272;258	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	S	272;258;258;260;310	ENSP00000241071:L272S;ENSP00000353821:L258S;ENSP00000419602:L258S;ENSP00000420239:L260S;ENSP00000416558:L310S	ENSP00000241071:L272S	L	+	2	0	FBXO24	100029963	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.684000	0.61686	2.137000	0.66172	0.392000	0.25879	TTG		0.557	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			35	78	0	0	0	1	0	35	78				
ARHGEF11	9826	broad.mit.edu	37	1	156928533	156928533	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr1:156928533C>T	ENST00000361409.2	-	16	2125		c.e16+1		ARHGEF11_ENST00000368194.3_Splice_Site	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAAGACTCACAAAATATCTC	0.532																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.e17+1		Rho guanine nucleotide exchange factor (GEF) 11							50.0	46.0	47.0					1																	156928533		2203	4300	6503	SO:0001630	splice_region_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156928533C>T	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1382+1G>A	1.37:g.156928533C>T						ARHGEF11_ENST00000361409.2_Splice_Site		NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			17	2542	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							D3DVD0|Q5VY40|Q6PFW2	Splice_Site	SNP	ENST00000361409.2	37		CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395961	0.83011	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0224	0.89259	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF11	155195157	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.885000	0.69736	2.606000	0.88127	0.491000	0.48974	.		0.532	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	Intron	10	16	0	0	0	1	0	10	16				
COL6A3	1293	broad.mit.edu	37	2	238275436	238275436	+	Silent	SNP	G	G	A	rs202086524		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr2:238275436G>A	ENST00000295550.4	-	11	5846	c.5394C>T	c.(5392-5394)cgC>cgT	p.R1798R	COL6A3_ENST00000347401.3_Silent_p.R1597R|COL6A3_ENST00000472056.1_Silent_p.R1191R|COL6A3_ENST00000409809.1_Silent_p.R1592R|COL6A3_ENST00000346358.4_Silent_p.R1598R|COL6A3_ENST00000353578.4_Silent_p.R1592R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTTGCCCACGCGGAACGCTG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		22287	0.0		0.001	False		,,,				2504	0.0					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5392-5394)cgC>cgT		collagen, type VI, alpha 3							97.0	89.0	92.0					2																	238275436		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275436G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5394C>T	2.37:g.238275436G>A						COL6A3_ENST00000353578.4_Silent_p.R1592R|COL6A3_ENST00000409809.1_Silent_p.R1592R|COL6A3_ENST00000346358.4_Silent_p.R1598R|COL6A3_ENST00000347401.3_Silent_p.R1597R|COL6A3_ENST00000472056.1_Silent_p.R1191R	p.R1798R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5846	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1798			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.5394C>T	CCDS33412.1																																																																																				0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		21	75	0	0	0	1	0	21	75				
PRR23A	729627	broad.mit.edu	37	3	138724757	138724757	+	Silent	SNP	C	C	G	rs11924188	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr3:138724757C>G	ENST00000383163.2	-	1	353	c.354G>C	c.(352-354)tcG>tcC	p.S118S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	118										endometrium(3)|kidney(1)|lung(7)	11						GCCCAGCAGACGAGTCGTCCT	0.617													C|||	3066	0.61222	0.4349	0.6066	5008	,	,		16100	0.6141		0.7594	False		,,,				2504	0.7025					ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(352-354)tcG>tcC		proline rich 23A		C		701,683		183,335,174	36.0	35.0	35.0		354	-2.9	0.0	3	dbSNP_120	35	2443,739		942,559,90	no	coding-synonymous	PRR23A	NM_001134659.1		1125,894,264	GG,GC,CC		23.2244,49.3497,31.1432		118/267	138724757	3144,1422	692	1591	2283	SO:0001819	synonymous_variant	729627							g.chr3:138724757C>G		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.354G>C	3.37:g.138724757C>G						MRPS22_ENST00000495075.1_5'UTR	p.S118S	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	353	-			118						Silent	SNP	ENST00000383163.2	37	c.354G>C	CCDS46923.1																																																																																				0.617	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		4	30	0	0	0	1	0	4	30				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		47	31	0	0	0	1	0	47	31				
ZNF594	84622	broad.mit.edu	37	17	5085881	5085881	+	Silent	SNP	T	T	C			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr17:5085881T>C	ENST00000399604.4	-	1	1811	c.1671A>G	c.(1669-1671)ggA>ggG	p.G557G	ZNF594_ENST00000575779.1_Silent_p.G557G			Q96JF6	ZN594_HUMAN	zinc finger protein 594	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTTCTGCTCTCCCCTAAGCT	0.473																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1669-1671)ggA>ggG		zinc finger protein 594							139.0	122.0	128.0					17																	5085881		2004	4208	6212	SO:0001819	synonymous_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085881T>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1671A>G	17.37:g.5085881T>C						ZNF594_ENST00000575779.1_Silent_p.G557G	p.G557G			Q96JF6	ZN594_HUMAN			1	1811	-			557					Q6RFS0	Silent	SNP	ENST00000399604.4	37	c.1671A>G	CCDS42241.1																																																																																				0.473	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		7	95	0	0	0	1	0	7	95				
CENPI	2491	broad.mit.edu	37	X	100382593	100382593	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chrX:100382593C>T	ENST00000372927.1	+	10	1290	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	CENPI_ENST00000218507.5_Missense_Mutation_p.S338L|CENPI_ENST00000423383.1_Missense_Mutation_p.S338L|CENPI_ENST00000372926.1_Missense_Mutation_p.S338L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	338					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.S338L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGAAGTGGATCATTTCCACTA	0.378																																						ENST00000372927.1																			1	Substitution - Missense(1)	p.S338L(1)	lung(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1012-1014)tCa>tTa		centromere protein I							117.0	109.0	112.0					X																	100382593		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382593C>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1013C>T	X.37:g.100382593C>T	ENSP00000362018:p.Ser338Leu					CENPI_ENST00000423383.1_Missense_Mutation_p.S338L|CENPI_ENST00000218507.5_Missense_Mutation_p.S338L|CENPI_ENST00000372926.1_Missense_Mutation_p.S338L	p.S338L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			10	1290	+			338					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1013C>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	8.544	0.874039	0.17395	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	4.54	0.55810	.	0.644562	0.16760	N	0.200667	T	0.46112	0.1376	M	0.70595	2.14	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.17098	0.017;0.017	T	0.35649	-0.9780	9	0.23302	T	0.38	-1.1598	10.8434	0.46728	0.0:0.844:0.0:0.156	.	338;338	B4DZL4;Q92674	.;CENPI_HUMAN	L	338	.	ENSP00000218507:S338L	S	+	2	0	CENPI	100269249	0.000000	0.05858	0.063000	0.19743	0.216000	0.24613	0.450000	0.21762	1.170000	0.42753	0.594000	0.82650	TCA		0.378	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		19	47	0	0	0	1	0	19	47				
MT-ND5	4540	broad.mit.edu	37	M	13121	13121	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chrM:13121G>A	ENST00000361567.2	+	1	785	c.785G>A	c.(784-786)cGc>cAc	p.R262H	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	262					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTTACTCATCCGCTTCCACCC	0.527																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(784-786)cGc>cAc		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13121G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.785G>A	M.37:g.13121G>A	ENSP00000354813:p.Arg262His						p.R262H			P03915	NU5M_HUMAN			1	785	+			262					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.785G>A																																																																																					0.527	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		7	89	0	0	0	1	0	7	89				
SLC25A37	51312	broad.mit.edu	37	8	23429210	23429210	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr8:23429210C>T	ENST00000519973.1	+	4	1057	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	287					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAATGCCTTCCGGACGGTGTA	0.607																																						ENST00000519973.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15						c.(859-861)Cgg>Tgg		solute carrier family 25 (mitochondrial iron transporter), member 37							31.0	34.0	33.0					8																	23429210		1971	4138	6109	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23429210C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.859C>T	8.37:g.23429210C>T	ENSP00000429200:p.Arg287Trp						p.R287W	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	4	1057	+		Prostate(55;0.114)	287					A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.859C>T	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696408	0.68386	.	.	ENSG00000147454	ENST00000519973	T	0.80909	-1.43	5.8	4.92	0.64577	Mitochondrial carrier domain (2);	0.051108	0.85682	D	0.000000	D	0.91188	0.7224	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92845	0.6292	10	0.87932	D	0	-9.8826	13.573	0.61858	0.2817:0.7183:0.0:0.0	.	287	Q9NYZ2	MFRN1_HUMAN	W	287	ENSP00000429200:R287W	ENSP00000429200:R287W	R	+	1	2	SLC25A37	23485155	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.615000	0.24329	1.436000	0.47453	0.650000	0.86243	CGG		0.607	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		11	33	0	0	0	1	0	11	33				
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	lincRNA	INS	-	-	A	rs1815381|rs57699261		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718																																						ENST00000412295.2																			0																																																			0							g.chr5:180708697_180708698insA																													5.37:g.180708697_180708698insA														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.718	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			4	6						4	6	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		3	6						3	6	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		29	171						29	171	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	727_728	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		7	4						7	4	---	---	---	---
GNB3	2784	broad.mit.edu	37	12	6954899	6954899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr12:6954899delC	ENST00000229264.3	+	10	1254	c.849delC	c.(847-849)cgcfs	p.R283fs	CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Frame_Shift_Del_p.R282fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	283					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCAGTGGCCGCCTACTATTCG	0.602																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(847-849)cgfs		guanine nucleotide binding protein (G protein), beta polypeptide 3							176.0	167.0	170.0					12																	6954899		2203	4300	6503	SO:0001589	frameshift_variant	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954899delC		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.849delC	12.37:g.6954899delC	ENSP00000229264:p.Arg283fs					CDCA3_ENST00000422785.3_3'UTR|GNB3_ENST00000435982.2_Frame_Shift_Del_p.R282fs|CDCA3_ENST00000604599.1_5'UTR	p.R283fs	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			10	1254	+			283					Q96B71|Q9BQC0	Frame_Shift_Del	DEL	ENST00000229264.3	37	c.849delC	CCDS8564.1																																																																																				0.602	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		55	166						55	166	---	---	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45566878	45566878	+	RNA	DEL	T	T	-			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr12:45566878delT	ENST00000256692.5	-	0	1807					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						tttatttttatttttttttAC	0.299																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26																																														0							g.chr12:45566878delT	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45566878delT								NR_037144.1						0	1807	-									RNA	DEL	ENST00000256692.5	37																																																																																						0.299	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		2	4						2	4	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52803642	52803642	+	RNA	DEL	T	T	-	rs374208420|rs201626119		TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr13:52803642delT	ENST00000451298.1	-	0	938				TPTE2P2_ENST00000606973.1_RNA																							CAGTTTTCCCTTTTTTTTTTT	0.328																																						ENST00000451298.1																			0																																																			0							g.chr13:52803642delT																													13.37:g.52803642delT						RP11-64P12.8_ENST00000606031.1_RNA								0	938	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.328	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			2	4						2	4	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34901690	34901691	+	Intron	INS	-	-	C			TCGA-EL-A3ZM-01A-12D-A23M-08	TCGA-EL-A3ZM-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8c8e57-8a4d-4881-bc1c-bddd6c4ca3e3	f6362e17-a8ee-444b-af2c-2d2b8c7a807d	g.chr17:34901690_34901691insC	ENST00000304718.4	+	2	409				GGNBP2_ENST00000485685.2_Frame_Shift_Ins_p.P40fs|MYO19_ENST00000590081.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678																																						ENST00000485685.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(115-120)ggccgcfs		gametogenetin binding protein 2																																				SO:0001627	intron_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34901690_34901691insC	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.93+24->C	17.37:g.34901693_34901693dupC						GGNBP2_ENST00000304718.4_Intron	p.R40fs			Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	2	409_410	+		Breast(25;0.00957)|Ovarian(249;0.17)	0					B2RPK7|Q96T90|Q9GZR8|Q9H767	Frame_Shift_Ins	INS	ENST00000304718.4	37	c.117_118insC	CCDS11314.1																																																																																				0.678	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		3	4						3	4	---	---	---	---
