#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
CKMT1A	548596	broad.mit.edu	37	15	43991229	43991229	+	Missense_Mutation	SNP	G	G	A	rs556793318		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:43991229G>A	ENST00000413453.2	+	9	1720	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.R399H			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	399	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGTGAACGGCGTCTGGAGAGA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19701	0.0		0.0	False		,,,				2504	0.001					ENST00000413453.2																			0				lung(4)	4						c.(1195-1197)cGt>cAt		creatine kinase, mitochondrial 1A	Creatine(DB00148)						172.0	154.0	160.0					15																	43991229		2198	4294	6492	SO:0001583	missense	548596				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43991229G>A	BC001926, BC006467	CCDS32217.1	15q15	2005-08-09			ENSG00000223572	ENSG00000223572	2.7.3.2		31736	protein-coding gene	gene with protein product		613415	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT1			Standard	XM_005254498		Approved		uc001zsn.3	P12532	OTTHUMG00000059898	ENST00000413453.2:c.1196G>A	15.37:g.43991229G>A	ENSP00000406577:p.Arg399His					CKMT1A_ENST00000434505.1_Missense_Mutation_p.R399H|STRC_ENST00000541030.1_Intron	p.R399H			P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1720	+		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	399			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000413453.2	37	c.1196G>A	CCDS32217.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981894	0.34942	.	.	ENSG00000223572	ENST00000424065;ENST00000434505;ENST00000413453	T;T	0.11930	2.73;2.73	3.71	2.78	0.32641	.	0.156324	0.53938	D	0.000043	T	0.25382	0.0617	.	.	.	0.42354	D	0.992385	.	.	.	.	.	.	T	0.01305	-1.1390	7	0.72032	D	0.01	1.9794	9.9787	0.41800	0.103:0.0:0.897:0.0	.	.	.	.	H	430;399;399	ENSP00000413165:R399H;ENSP00000406577:R399H	ENSP00000406577:R399H	R	+	2	0	CKMT1A	41778521	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	3.443000	0.52907	0.520000	0.28426	0.393000	0.25936	CGT		0.493	CKMT1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133136.1			6	137	0	0	0	1	0	6	137				
MUC17	140453	broad.mit.edu	37	7	100684757	100684757	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:100684757A>T	ENST00000306151.4	+	3	10124	c.10060A>T	c.(10060-10062)Agt>Tgt	p.S3354C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3354	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAGTGGTCAGTTCTGAGGC	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10060-10062)Agt>Tgt		mucin 17, cell surface associated							295.0	307.0	303.0					7																	100684757		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684757A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10060A>T	7.37:g.100684757A>T	ENSP00000302716:p.Ser3354Cys						p.S3354C	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10124	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3354			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10060A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	4.635	0.118040	0.08881	.	.	ENSG00000169876	ENST00000306151	T	0.02709	4.19	0.823	0.823	0.18812	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.44421	-0.9329	9	0.56958	D	0.05	.	3.5513	0.07847	0.5848:0.4152:0.0:0.0	.	3354	Q685J3	MUC17_HUMAN	C	3354	ENSP00000302716:S3354C	ENSP00000302716:S3354C	S	+	1	0	MUC17	100471477	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.024000	0.12435	0.166000	0.19597	0.165000	0.16767	AGT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		30	456	0	0	0	1	0	30	456				
TEDDM1	127670	broad.mit.edu	37	1	182369551	182369551	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:182369551A>G	ENST00000367565.1	-	1	200	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	24						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						GCTATTTTCCACAGCCTGGCA	0.463																																						ENST00000367565.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						c.(70-72)Tgg>Cgg		transmembrane epididymal protein 1							119.0	111.0	114.0					1																	182369551		2203	4300	6503	SO:0001583	missense	127670					integral to membrane		g.chr1:182369551A>G	AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"""putative membrane protein HE9"", ""transmembrane protein 45C"", ""epididymal protein 9"""						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.70T>C	1.37:g.182369551A>G	ENSP00000356536:p.Trp24Arg						p.W24R	NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN			1	200	-			24					Q8IVJ0	Missense_Mutation	SNP	ENST00000367565.1	37	c.70T>C	CCDS30953.1	.	.	.	.	.	.	.	.	.	.	A	0.285	-0.983905	0.02180	.	.	ENSG00000203730	ENST00000367565	T	0.42131	0.98	5.18	1.51	0.23008	.	0.839951	0.10379	N	0.681795	T	0.28699	0.0711	L	0.39245	1.2	0.26193	N	0.979567	B	0.30605	0.287	B	0.28011	0.085	T	0.21177	-1.0253	10	0.21014	T	0.42	-3.9985	5.315	0.15850	0.682:0.1512:0.1667:0.0	.	24	Q5T9Z0	TEDM1_HUMAN	R	24	ENSP00000356536:W24R	ENSP00000356536:W24R	W	-	1	0	TEDDM1	180636174	0.696000	0.27757	0.782000	0.31804	0.319000	0.28217	0.648000	0.24828	0.423000	0.26033	-0.316000	0.08728	TGG		0.463	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091029.1	NM_172000		6	95	0	0	0	1	0	6	95				
UNC79	57578	broad.mit.edu	37	14	94069684	94069684	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr14:94069684G>A	ENST00000393151.2	+	26	3674	c.3674G>A	c.(3673-3675)cGt>cAt	p.R1225H	UNC79_ENST00000553484.1_Missense_Mutation_p.R1225H|UNC79_ENST00000256339.4_Missense_Mutation_p.R1048H|UNC79_ENST00000555664.1_Missense_Mutation_p.R1225H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1225					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGAGTGTACGTTCCCTGAGG	0.527																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3673-3675)cGt>cAt		unc-79 homolog (C. elegans)							143.0	125.0	131.0					14																	94069684		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94069684G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3674G>A	14.37:g.94069684G>A	ENSP00000376858:p.Arg1225His					UNC79_ENST00000555664.1_Missense_Mutation_p.R1225H|UNC79_ENST00000256339.4_Missense_Mutation_p.R1048H|UNC79_ENST00000393151.2_Missense_Mutation_p.R1225H	p.R1225H			Q9P2D8	UNC79_HUMAN			26	3828	+			1225					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3674G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771943	0.90108	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.22945	1.96;1.93;2.02;1.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.42245	1.32	0.54753	D	0.999989	D	0.89917	1.0	D	0.79784	0.993	T	0.30001	-0.9993	10	0.66056	D	0.02	-17.3788	20.2723	0.98479	0.0:0.0:1.0:0.0	.	1225	C9JQL1	.	H	1048;1225;1225;1225;1225	ENSP00000256339:R1048H;ENSP00000450868:R1225H;ENSP00000451360:R1225H;ENSP00000376858:R1225H	ENSP00000256339:R1048H	R	+	2	0	KIAA1409	93139437	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	CGT		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	73	0	0	0	1	0	5	73				
HAO2	51179	broad.mit.edu	37	1	119936434	119936434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:119936434C>T	ENST00000325945.3	+	8	1100	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000361035.4_Nonsense_Mutation_p.R356*	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	343	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGAGATCAATCGAAACTTGGT	0.478																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1066-1068)Cga>Tga		hydroxyacid oxidase 2 (long chain)							200.0	183.0	189.0					1																	119936434		2203	4300	6503	SO:0001587	stop_gained	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119936434C>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.1027C>T	1.37:g.119936434C>T	ENSP00000316339:p.Arg343*					HAO2_ENST00000325945.3_Nonsense_Mutation_p.R343*|HAO2_ENST00000482991.1_3'UTR	p.R356*	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	9	1349	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	343					Q2TU86|Q5QP00|Q9UJS6	Nonsense_Mutation	SNP	ENST00000325945.3	37	c.1066C>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309006	0.40895	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	.	.	.	4.44	2.34	0.29019	.	0.596776	0.17226	N	0.182159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	12.479	0.55831	0.3203:0.6797:0.0:0.0	.	.	.	.	X	356;343	.	.	R	+	1	2	HAO2	119737957	0.059000	0.20769	0.004000	0.12327	0.045000	0.14185	0.809000	0.27168	1.168000	0.42723	0.563000	0.77884	CGA		0.478	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		5	118	0	0	0	1	0	5	118				
ARHGEF10	9639	broad.mit.edu	37	8	1877527	1877527	+	Silent	SNP	A	A	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr8:1877527A>T	ENST00000398564.1	+	25	3072	c.3072A>T	c.(3070-3072)acA>acT	p.T1024T	ARHGEF10_ENST00000518288.1_Silent_p.T1023T|ARHGEF10_ENST00000262112.6_Silent_p.T995T|ARHGEF10_ENST00000349830.3_Silent_p.T999T|ARHGEF10_ENST00000520359.1_Silent_p.T961T			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1024				T -> S (in Ref. 6; AAB71662). {ECO:0000305}.	centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGAAGTCCACAGTCATGAGCC	0.517																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(3067-3069)acA>acT		Rho guanine nucleotide exchange factor (GEF) 10							102.0	104.0	103.0					8																	1877527		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1877527A>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3072A>T	8.37:g.1877527A>T						ARHGEF10_ENST00000349830.3_Silent_p.T999T|ARHGEF10_ENST00000262112.6_Silent_p.T995T|ARHGEF10_ENST00000398564.1_Silent_p.T1024T|ARHGEF10_ENST00000520359.1_Silent_p.T961T	p.T1023T			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	26	3232	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1024					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.3069A>T																																																																																					0.517	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				4	169	0	0	0	1	0	4	169				
FBLN2	2199	broad.mit.edu	37	3	13655525	13655525	+	Silent	SNP	C	C	T	rs368630493		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13655525C>T	ENST00000295760.7	+	5	1659	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	FBLN2_ENST00000404922.3_Silent_p.A530A|FBLN2_ENST00000492059.1_Silent_p.A530A|FBLN2_ENST00000535798.1_Silent_p.A556A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	530	Anaphylatoxin-like 3. {ECO:0000255|PROSITE-ProRule:PRU00022}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGTGCGGGCCGAGGGCCAGT	0.597																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1588-1590)gcC>gcT		fibulin 2							47.0	55.0	52.0					3																	13655525		2058	4190	6248	SO:0001819	synonymous_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13655525C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1590C>T	3.37:g.13655525C>T						FBLN2_ENST00000535798.1_Silent_p.A556A|FBLN2_ENST00000295760.7_Silent_p.A530A|FBLN2_ENST00000492059.1_Silent_p.A530A	p.A530A	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		5	1709	+			530			Anaphylatoxin-like 3.		B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.1590C>T	CCDS46762.1																																																																																				0.597	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		13	36	0	0	0	1	0	13	36				
DOCK3	1795	broad.mit.edu	37	3	51418833	51418833	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:51418833A>C	ENST00000266037.9	+	53	5959	c.5936A>C	c.(5935-5937)cAc>cCc	p.H1979P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1979					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.H1979P(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGCCCTACCACCCCCGCCTG	0.692																																						ENST00000266037.9																			1	Substitution - Missense(1)	p.H1979P(1)	prostate(1)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5935-5937)cAc>cCc		dedicator of cytokinesis 3							16.0	22.0	20.0					3																	51418833		2053	4184	6237	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418833A>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5936A>C	3.37:g.51418833A>C	ENSP00000266037:p.His1979Pro						p.H1979P	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5959	+			1979					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5936A>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396581	0.42512	.	.	ENSG00000088538	ENST00000266037	T	0.04862	3.54	6.17	6.17	0.99709	.	0.059320	0.64402	D	0.000006	T	0.08313	0.0207	L	0.47716	1.5	0.48511	D	0.999662	P	0.50943	0.94	B	0.41571	0.36	T	0.37709	-0.9694	10	0.25106	T	0.35	.	15.3933	0.74767	1.0:0.0:0.0:0.0	.	1979	Q8IZD9	DOCK3_HUMAN	P	1979	ENSP00000266037:H1979P	ENSP00000266037:H1979P	H	+	2	0	DOCK3	51393873	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	2.814000	0.48010	2.371000	0.80710	0.533000	0.62120	CAC		0.692	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		15	11	0	0	0	1	0	15	11				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gAa		mucin 4, cell surface associated							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	9	0	0	0	1	0	3	9				
KCNK5	8645	broad.mit.edu	37	6	39159385	39159385	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:39159385G>A	ENST00000359534.3	-	5	1119	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	261					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(781-783)Cgg>Tgg		potassium channel, subfamily K, member 5							80.0	87.0	85.0					6																	39159385		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159385G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.781C>T	6.37:g.39159385G>A	ENSP00000352527:p.Arg261Trp						p.R261W	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1119	-			261					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.781C>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937209	0.73557	.	.	ENSG00000164626	ENST00000359534	T	0.24908	1.83	5.05	3.21	0.36854	.	1.981190	0.02302	N	0.071281	T	0.19967	0.0480	L	0.27053	0.805	0.33933	D	0.642272	D	0.69078	0.997	P	0.53313	0.723	T	0.05649	-1.0872	10	0.72032	D	0.01	.	13.4361	0.61084	0.0:0.0:0.4228:0.5772	.	261	O95279	KCNK5_HUMAN	W	261	ENSP00000352527:R261W	ENSP00000352527:R261W	R	-	1	2	KCNK5	39267363	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.697000	0.54764	0.596000	0.29794	0.561000	0.74099	CGG		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		4	175	0	0	0	1	0	4	175				
GRIN2A	2903	broad.mit.edu	37	16	10274071	10274071	+	Silent	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:10274071G>A	ENST00000396573.2	-	3	507	c.198C>T	c.(196-198)gaC>gaT	p.D66D	GRIN2A_ENST00000404927.2_Silent_p.D66D|GRIN2A_ENST00000396575.2_Silent_p.D66D|GRIN2A_ENST00000330684.3_Silent_p.D66D|GRIN2A_ENST00000562109.1_Silent_p.D66D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	66					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCACGTTCACGTCCAGGGGCA	0.642																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(196-198)gaC>gaT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						74.0	76.0	75.0					16																	10274071		2197	4300	6497	SO:0001819	synonymous_variant	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274071G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.198C>T	16.37:g.10274071G>A						GRIN2A_ENST00000404927.2_Silent_p.D66D|GRIN2A_ENST00000330684.3_Silent_p.D66D|GRIN2A_ENST00000562109.1_Silent_p.D66D|GRIN2A_ENST00000396575.2_Silent_p.D66D	p.D66D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	507	-			66					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.198C>T	CCDS10539.1																																																																																				0.642	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			10	154	0	0	0	1	0	10	154				
USH1C	10083	broad.mit.edu	37	11	17519815	17519815	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:17519815C>T	ENST00000318024.4	-	19	1592	c.1484G>A	c.(1483-1485)gGc>gAc	p.G495D	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.G464D|USH1C_ENST00000527020.1_Missense_Mutation_p.G476D|USH1C_ENST00000005226.7_Missense_Mutation_p.G795D	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	495	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTCACAATGCCACCTGCAGG	0.577																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2383-2385)gGc>gAc		Usher syndrome 1C (autosomal recessive, severe)							213.0	171.0	186.0					11																	17519815		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17519815C>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1484G>A	11.37:g.17519815C>T	ENSP00000317018:p.Gly495Asp					USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.G464D|USH1C_ENST00000527020.1_Missense_Mutation_p.G476D|USH1C_ENST00000318024.4_Missense_Mutation_p.G495D	p.G795D	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			24	2383	-			495					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.2384G>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333229	0.81801	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.50257	0.1605	L	0.50919	1.6	0.42978	D	0.994455	D;D;D	0.89917	0.989;1.0;1.0	D;D;D	0.97110	0.964;1.0;1.0	T	0.36383	-0.9750	10	0.31617	T	0.26	.	17.6868	0.88258	0.0:1.0:0.0:0.0	.	476;495;795	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	D	495;464;476;795	ENSP00000317018:G495D;ENSP00000432944:G464D;ENSP00000436934:G476D;ENSP00000005226:G795D	ENSP00000005226:G795D	G	-	2	0	USH1C	17476391	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.826000	0.69293	2.466000	0.83321	0.561000	0.74099	GGC		0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		4	101	0	0	0	1	0	4	101				
DNMT3A	1788	broad.mit.edu	37	2	25468913	25468913	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:25468913G>A	ENST00000264709.3	-	12	1787	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R484W|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R295W|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R261W|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	484	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTTCTGCCGCACCTCGTAC	0.617			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1450-1452)Cgg>Tgg		DNA (cytosine-5-)-methyltransferase 3 alpha							103.0	81.0	89.0					2																	25468913		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468913G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1450C>T	2.37:g.25468913G>A	ENSP00000264709:p.Arg484Trp					DNMT3A_ENST00000380746.4_Missense_Mutation_p.R295W|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R261W|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R484W	p.R484W	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			12	1787	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		484			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1450C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144401	0.57044	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.55	4.66	0.58398	.	0.120874	0.52532	N	0.000077	T	0.27384	0.0672	L	0.48642	1.525	0.80722	D	1	P;B	0.34562	0.457;0.034	B;B	0.28638	0.092;0.004	T	0.13522	-1.0506	10	0.72032	D	0.01	-10.1334	7.71	0.28671	0.0844:0.0:0.7554:0.1603	.	484;295	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	W	295;484;484;261	ENSP00000370122:R295W;ENSP00000324375:R484W;ENSP00000264709:R484W;ENSP00000384237:R261W	ENSP00000264709:R484W	R	-	1	2	DNMT3A	25322417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.480000	0.45206	2.608000	0.88229	0.643000	0.83706	CGG		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		4	93	0	0	0	1	0	4	93				
NUTM1	256646	broad.mit.edu	37	15	34646897	34646897	+	Silent	SNP	C	C	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:34646897C>A	ENST00000333756.4	+	5	1397	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	NUTM1_ENST00000537011.1_Silent_p.I442I|NUTM1_ENST00000438749.3_Silent_p.I432I	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	414						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGCTACATCAATGAGCTGT	0.527																																						ENST00000537011.1																			0											c.(1324-1326)atC>atA		NUT midline carcinoma, family member 1							201.0	179.0	186.0					15																	34646897		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34646897C>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1242C>A	15.37:g.34646897C>A						NUTM1_ENST00000438749.3_Silent_p.I432I|NUTM1_ENST00000333756.4_Silent_p.I414I	p.I442I							6	1708	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.1326C>A	CCDS32190.1																																																																																				0.527	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		10	158	1	0	7.03913e-09	1	7.3245e-09	10	158				
FLT4	2324	broad.mit.edu	37	5	180056949	180056949	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr5:180056949T>A	ENST00000261937.6	-	5	748	c.670A>T	c.(670-672)Atc>Ttc	p.I224F	FLT4_ENST00000393347.3_Missense_Mutation_p.I224F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.I224F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	224	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCTGTGATGTGCACCAGG	0.622																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(670-672)Atc>Ttc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						69.0	61.0	63.0					5																	180056949		2199	4297	6496	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056949T>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.670A>T	5.37:g.180056949T>A	ENSP00000261937:p.Ile224Phe					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.I224F|FLT4_ENST00000393347.3_Missense_Mutation_p.I224F	p.I224F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	748	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	224			Ig-like C2-type 3.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.670A>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216810	0.58452	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.78003	-1.14;-1.14;-1.13	5.06	3.89	0.44902	Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76212	0.3956	L	0.47716	1.5	0.42689	D	0.99357	D;D;P;P	0.61697	0.967;0.99;0.864;0.864	P;P;B;B	0.55577	0.606;0.779;0.378;0.378	T	0.73275	-0.4034	9	0.30854	T	0.27	.	6.06	0.19832	0.0:0.0839:0.1655:0.7506	.	224;224;224;224	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	F	224;224;224;34	ENSP00000261937:I224F;ENSP00000377016:I224F;ENSP00000426057:I224F	ENSP00000261937:I224F	I	-	1	0	FLT4	179989555	0.839000	0.29477	0.998000	0.56505	0.898000	0.52572	0.783000	0.26802	2.037000	0.60232	0.459000	0.35465	ATC		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			4	61	0	0	0	1	0	4	61				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			0							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	15	0	0	0	1	0	3	15				
S1PR3	1903	broad.mit.edu	37	9	91616909	91616909	+	Missense_Mutation	SNP	T	T	C	rs145125543		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:91616909T>C	ENST00000375846.3	+	1	5489	c.794T>C	c.(793-795)aTt>aCt	p.I265T	S1PR3_ENST00000358157.2_Missense_Mutation_p.I265T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.I265T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CTCTTCCTCATTGATGTGGCC	0.587													T|||	1	0.000199681	0.0	0.0	5008	,	,		19548	0.0		0.001	False		,,,				2504	0.0					ENST00000375846.3																			1	Substitution - Missense(1)	p.I265T(1)	breast(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						c.(793-795)aTt>aCt		sphingosine-1-phosphate receptor 3		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	143.0	84.0	104.0		794	3.8	0.5	9	dbSNP_134	104	5,8595	4.3+/-15.6	0,5,4295	yes	missense	S1PR3	NM_005226.2	89	0,6,6497	CC,CT,TT		0.0581,0.0227,0.0461	benign	265/379	91616909	6,13000	2203	4300	6503	SO:0001583	missense	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91616909T>C	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.794T>C	9.37:g.91616909T>C	ENSP00000365006:p.Ile265Thr					S1PR3_ENST00000358157.2_Missense_Mutation_p.I265T	p.I265T			Q99500	S1PR3_HUMAN			1	5489	+			265					Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	c.794T>C	CCDS6680.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	13.76	2.332439	0.41297	2.27E-4	5.81E-4	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.38722	1.12;1.12	4.98	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.404011	0.25227	N	0.032183	T	0.37376	0.1001	L	0.54965	1.715	0.37791	D	0.927349	P	0.36354	0.549	B	0.34536	0.185	T	0.45293	-0.9271	10	0.87932	D	0	.	10.8493	0.46761	0.0:0.0743:0.0:0.9257	.	265	Q99500	S1PR3_HUMAN	T	265	ENSP00000350878:I265T;ENSP00000365006:I265T	ENSP00000350878:I265T	I	+	2	0	S1PR3	90806729	0.997000	0.39634	0.481000	0.27354	0.912000	0.54170	3.986000	0.56937	1.031000	0.39867	0.379000	0.24179	ATT		0.587	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		4	57	0	0	0	1	0	4	57				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	52	0	0	0	1	0	3	52				
ANO2	57101	broad.mit.edu	37	12	5672710	5672710	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:5672710G>C	ENST00000356134.5	-	27	2826	c.2755C>G	c.(2755-2757)Ctc>Gtc	p.L919V	ANO2_ENST00000327087.8_Missense_Mutation_p.L918V|ANO2_ENST00000546188.1_Missense_Mutation_p.L919V	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	923					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGTCCACGAGGACGCTCAGG	0.552																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2755-2757)Ctc>Gtc		anoctamin 2							85.0	79.0	81.0					12																	5672710		1966	4163	6129	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5672710G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2755C>G	12.37:g.5672710G>C	ENSP00000348453:p.Leu919Val					ANO2_ENST00000327087.8_Missense_Mutation_p.L918V|ANO2_ENST00000356134.5_Missense_Mutation_p.L919V	p.L919V			Q9NQ90	ANO2_HUMAN			26	2826	-			923					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2755C>G		.	.	.	.	.	.	.	.	.	.	G	11.38	1.622208	0.28889	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000543568	T;T;T	0.64618	-0.11;-0.11;-0.11	4.79	4.79	0.61399	.	0.283332	0.31210	N	0.008052	T	0.47619	0.1455	L	0.33293	1	0.47009	D	0.999286	B	0.26975	0.165	B	0.25405	0.06	T	0.45454	-0.9260	10	0.37606	T	0.19	.	8.5691	0.33558	0.085:0.1546:0.7604:0.0	.	918	Q9NQ90-3	.	V	918;919;919;923;6	ENSP00000314048:L918V;ENSP00000348453:L919V;ENSP00000440981:L919V	ENSP00000314048:L918V	L	-	1	0	ANO2	5542971	0.749000	0.28305	0.986000	0.45419	0.943000	0.58893	1.072000	0.30678	2.369000	0.80426	0.555000	0.69702	CTC		0.552	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		9	121	0	0	0	1	0	9	121				
MPI	4351	broad.mit.edu	37	15	75183769	75183769	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:75183769G>A	ENST00000352410.4	+	3	261	c.194G>A	c.(193-195)cGc>cAc	p.R65H	MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H			P34949	MPI_HUMAN	mannose phosphate isomerase	65					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CTTGACAACCGCATCTCACAG	0.552																																						ENST00000352410.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(193-195)cGc>cAc		mannose phosphate isomerase							175.0	153.0	160.0					15																	75183769		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75183769G>A		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.194G>A	15.37:g.75183769G>A	ENSP00000318318:p.Arg65His					MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H|MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H	p.R65H			P34949	MPI_HUMAN			3	261	+			65					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.194G>A	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980537	0.34942	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.95690	-3.78;-3.78;-3.78	5.07	1.93	0.25924	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.247105	0.39475	N	0.001360	D	0.90631	0.7062	L	0.41356	1.27	0.36302	D	0.857123	B;B;B;B;B	0.15930	0.015;0.013;0.003;0.0;0.004	B;B;B;B;B	0.20955	0.032;0.002;0.002;0.009;0.009	D	0.87316	0.2315	10	0.46703	T	0.11	.	6.3624	0.21435	0.2312:0.1374:0.6314:0.0	.	15;65;65;45;65	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	H	65;15;45;65	ENSP00000318318:R65H;ENSP00000440447:R15H;ENSP00000318192:R65H	ENSP00000318192:R65H	R	+	2	0	MPI	72970822	0.001000	0.12720	0.143000	0.22291	0.620000	0.37586	1.040000	0.30278	1.122000	0.41944	0.462000	0.41574	CGC		0.552	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			4	156	0	0	0	1	0	4	156				
AOC1	26	broad.mit.edu	37	7	150553856	150553856	+	Missense_Mutation	SNP	G	G	A	rs577618065		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:150553856G>A	ENST00000493429.1	+	4	882	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	AOC1_ENST00000467291.1_Missense_Mutation_p.V100I|AOC1_ENST00000360937.4_Missense_Mutation_p.V100I|AOC1_ENST00000416793.2_Missense_Mutation_p.V100I			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	100					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	AGCCCGTGCCGTCATCTTCTT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19281	0.0		0.0	False		,,,				2504	0.001					ENST00000493429.1																			0											c.(298-300)Gtc>Atc		amine oxidase, copper containing 1							109.0	107.0	108.0					7																	150553856		1983	4159	6142	SO:0001583	missense	26							g.chr7:150553856G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.298G>A	7.37:g.150553856G>A	ENSP00000418614:p.Val100Ile					AOC1_ENST00000467291.1_Missense_Mutation_p.V100I|AOC1_ENST00000360937.4_Missense_Mutation_p.V100I|AOC1_ENST00000416793.2_Missense_Mutation_p.V100I	p.V100I							4	882	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.298G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	2.901	-0.227597	0.06022	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.32	-4.83	0.03161	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.564860	0.18326	N	0.144636	T	0.16769	0.0403	N	0.16166	0.38	0.21527	N	0.999657	B;B	0.15141	0.012;0.008	B;B	0.18263	0.021;0.009	T	0.30001	-0.9993	10	0.11182	T	0.66	-11.239	13.5265	0.61597	0.6106:0.0:0.3894:0.0	.	100;100	C9J690;P19801	.;ABP1_HUMAN	I	100	ENSP00000418614:V100I;ENSP00000418328:V100I;ENSP00000418557:V100I;ENSP00000354193:V100I;ENSP00000411613:V100I;ENSP00000417392:V100I	ENSP00000354193:V100I	V	+	1	0	ABP1	150184789	0.002000	0.14202	0.002000	0.10522	0.345000	0.29048	-0.049000	0.11924	-0.875000	0.04022	-0.137000	0.14449	GTC		0.582	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		48	80	0	0	0	1	0	48	80				
RFPL3	10738	broad.mit.edu	37	22	32756257	32756257	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr22:32756257C>T	ENST00000249007.4	+	2	597	c.392C>T	c.(391-393)gCc>gTc	p.A131V	RFPL3_ENST00000382088.3_Missense_Mutation_p.A102V|RFPL3S_ENST00000461833.1_5'Flank|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.A102V|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	131	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ACCTTGGATGCCGACACAGCC	0.502																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(391-393)gCc>gTc		ret finger protein-like 3							119.0	109.0	113.0					22																	32756257		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756257C>T	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.392C>T	22.37:g.32756257C>T	ENSP00000249007:p.Ala131Val					RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.A102V|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.A102V	p.A131V	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			2	597	+			131			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.392C>T	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.789596	0.00623	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.10382	2.88;2.88;2.88	0.664	-1.33	0.09172	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.03305	0.0096	N	0.02225	-0.63	0.44168	D	0.996974	B	0.06786	0.001	B	0.16722	0.016	T	0.46317	-0.9200	9	0.32370	T	0.25	.	3.2388	0.06773	0.0:0.4477:0.2597:0.2926	.	131	O75679	RFPL3_HUMAN	V	102;131;102	ENSP00000380609:A102V;ENSP00000249007:A131V;ENSP00000371520:A102V	ENSP00000249007:A131V	A	+	2	0	RFPL3	31086257	0.946000	0.32159	0.088000	0.20740	0.094000	0.18550	3.383000	0.52471	-1.204000	0.02648	-1.133000	0.01973	GCC		0.502	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		4	127	0	0	0	1	0	4	127				
GPC4	2239	broad.mit.edu	37	X	132548972	132548972	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:132548972C>T	ENST00000370828.3	-	1	546	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	GPC4_ENST00000535467.1_5'Flank	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	8					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGAGAAGCGCGGGCAAGCCG	0.687																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(22-24)Gcg>Acg		glypican 4							23.0	24.0	24.0					X																	132548972		2203	4297	6500	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132548972C>T	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.22G>A	X.37:g.132548972C>T	ENSP00000359864:p.Ala8Thr						p.A8T	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			1	546	-	Acute lymphoblastic leukemia(192;0.000127)		8					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.22G>A	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679252	0.29783	.	.	ENSG00000076716	ENST00000370828;ENST00000536418	T	0.37752	1.18	4.31	1.0	0.19881	.	0.859710	0.10088	N	0.717550	T	0.12390	0.0301	N	0.02011	-0.69	0.26429	N	0.975974	B	0.06786	0.001	B	0.06405	0.002	T	0.20605	-1.0270	10	0.48119	T	0.1	.	1.6204	0.02712	0.438:0.2909:0.1496:0.1215	.	8	O75487	GPC4_HUMAN	T	8	ENSP00000359864:A8T	ENSP00000359864:A8T	A	-	1	0	GPC4	132376638	0.971000	0.33674	0.938000	0.37757	0.892000	0.51952	0.111000	0.15458	0.158000	0.19367	-0.353000	0.07706	GCG		0.687	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		5	56	0	0	0	1	0	5	56				
NUP107	57122	broad.mit.edu	37	12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	644					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1930-1932)cGa>cAa		nucleoporin 107kDa							63.0	66.0	65.0					12																	69125432		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69125432G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1931G>A	12.37:g.69125432G>A	ENSP00000229179:p.Arg644Gln					NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	p.R644Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		22	2263	+	Breast(13;6.25e-06)		644					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.1931G>A	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805898	0.90623	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.59	5.59	0.84812	.	0.059343	0.64402	D	0.000003	T	0.69593	0.3128	M	0.73598	2.24	0.80722	D	1	P;P	0.45283	0.855;0.768	P;B	0.45119	0.47;0.346	T	0.70096	-0.4966	8	.	.	.	-0.1557	19.9688	0.97277	0.0:0.0:1.0:0.0	.	615;644	B4DZ67;P57740	.;NU107_HUMAN	Q	644;615	.	.	R	+	2	0	NUP107	67411699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.492000	0.73654	2.804000	0.96469	0.650000	0.86243	CGA		0.353	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		4	47	0	0	0	1	0	4	47				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	60	0	0	0	1	0	5	60				
FOXN1	8456	broad.mit.edu	37	17	26861989	26861989	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:26861989C>A	ENST00000226247.2	+	7	1429	c.1400C>A	c.(1399-1401)cCc>cAc	p.P467H	FOXN1_ENST00000579795.1_Missense_Mutation_p.P467H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	467					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTCCTGGACCCCCGCAGCCA	0.677																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1399-1401)cCc>cAc		forkhead box N1							35.0	35.0	35.0					17																	26861989		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861989C>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1400C>A	17.37:g.26861989C>A	ENSP00000226247:p.Pro467His					FOXN1_ENST00000579795.1_Missense_Mutation_p.P467H	p.P467H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			7	1429	+	Lung NSC(42;0.00431)		467					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1400C>A	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	7.395	0.631516	0.14322	.	.	ENSG00000109101	ENST00000226247	D	0.93247	-3.19	4.35	2.12	0.27331	.	0.794130	0.11240	N	0.584700	T	0.81645	0.4866	N	0.08118	0	0.27391	N	0.955129	B	0.06786	0.001	B	0.06405	0.002	T	0.69491	-0.5131	10	0.25751	T	0.34	.	2.6089	0.04885	0.2721:0.51:0.0:0.2179	.	467	O15353	FOXN1_HUMAN	H	467	ENSP00000226247:P467H	ENSP00000226247:P467H	P	+	2	0	FOXN1	23886116	0.999000	0.42202	0.967000	0.41034	0.726000	0.41606	0.909000	0.28558	0.982000	0.38575	0.561000	0.74099	CCC		0.677	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			8	69	1	0	0.000157383	1	0.000159454	8	69				
SIGLEC9	27180	broad.mit.edu	37	19	51628473	51628473	+	Missense_Mutation	SNP	G	G	A	rs151265101		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:51628473G>A	ENST00000250360.3	+	1	309	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.R81Q	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	81	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACCCAGCTCGGGCAGTGTGG	0.572																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(241-243)cGg>cAg		sialic acid binding Ig-like lectin 9		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	101.0	91.0	94.0		242,242	-3.2	0.0	19	dbSNP_134	94	1,8599		0,1,4299	no	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	81/480,81/464	51628473	1,13005	2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628473G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.242G>A	19.37:g.51628473G>A	ENSP00000250360:p.Arg81Gln					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R81Q	p.R81Q	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	309	+		all_neural(266;0.0529)	81			Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.242G>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	9.960	1.222425	0.22457	0.0	1.16E-4	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.64803	-0.12;-0.12	2.9	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.288320	0.06255	N	0.692757	T	0.47248	0.1435	L	0.47190	1.495	0.09310	N	1	P	0.38370	0.628	B	0.34180	0.177	T	0.38802	-0.9644	10	0.41790	T	0.15	.	3.9777	0.09481	0.4374:0.1863:0.3763:0.0	.	81	Q9Y336	SIGL9_HUMAN	Q	81	ENSP00000413861:R81Q;ENSP00000250360:R81Q	ENSP00000250360:R81Q	R	+	2	0	SIGLEC9	56320285	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.551000	0.02178	-0.531000	0.06340	0.411000	0.27672	CGG		0.572	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		26	67	0	0	0	1	0	26	67				
FAM47B	170062	broad.mit.edu	37	X	34961355	34961355	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:34961355A>G	ENST00000329357.5	+	1	443	c.407A>G	c.(406-408)aAt>aGt	p.N136S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	136										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATGTACCCCAATCTGGGAAAA	0.567																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(406-408)aAt>aGt		family with sequence similarity 47, member B							92.0	81.0	85.0					X																	34961355		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961355A>G	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.407A>G	X.37:g.34961355A>G	ENSP00000328307:p.Asn136Ser						p.N136S	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	443	+			136					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.407A>G	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	A	1.094	-0.663069	0.03428	.	.	ENSG00000189132	ENST00000329357	T	0.18502	2.21	0.843	-0.587	0.11690	.	.	.	.	.	T	0.10680	0.0261	L	0.38838	1.175	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.38585	-0.9654	9	0.21014	T	0.42	.	4.282	0.10838	0.7589:0.0:0.2411:0.0	.	136	Q8NA70	FA47B_HUMAN	S	136	ENSP00000328307:N136S	ENSP00000328307:N136S	N	+	2	0	FAM47B	34871276	0.313000	0.24554	0.002000	0.10522	0.016000	0.09150	-2.264000	0.01173	-0.239000	0.09710	-1.064000	0.02280	AAT		0.567	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		8	77	0	0	0	1	0	8	77				
BAIAP2	10458	broad.mit.edu	37	17	79059482	79059482	+	Missense_Mutation	SNP	C	C	T	rs371193130		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:79059482C>T	ENST00000321300.6	+	5	401	c.308C>T	c.(307-309)aCg>aTg	p.T103M	BAIAP2_ENST00000428708.2_Missense_Mutation_p.T103M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575712.1_Missense_Mutation_p.T103M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.T25M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.T103M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.T103M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.T136M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	103	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGCTGCTTACGCAGCTGGAG	0.602																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(307-309)aCg>aTg		BAI1-associated protein 2							90.0	77.0	82.0					17																	79059482		2203	4300	6503	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79059482C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.308C>T	17.37:g.79059482C>T	ENSP00000316338:p.Thr103Met					BAIAP2_ENST00000321280.7_Missense_Mutation_p.T103M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.T103M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000392411.3_Missense_Mutation_p.T25M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.T103M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.T136M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.T103M	p.T103M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		5	401	+	all_neural(118;0.101)		103			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.308C>T	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429634	0.25726	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.89	4.29	3.32	0.38043	IRSp53/MIM homology domain (IMD) (3);	0.121537	0.56097	D	0.000028	T	0.50360	0.1611	L	0.51422	1.61	0.33498	D	0.589583	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998;1.0;1.0;0.998	D;D;D;P;P;P;P;P	0.78314	0.95;0.991;0.956;0.779;0.791;0.878;0.878;0.779	T	0.61637	-0.7022	10	0.44086	T	0.13	-18.362	11.4886	0.50369	0.0:0.9114:0.0:0.0886	.	25;104;103;103;103;103;103;103	F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;BAIP2_HUMAN;.;.;.;.;.	M	103;103;103;103;25	ENSP00000316338:T103M;ENSP00000401022:T103M;ENSP00000413069:T103M;ENSP00000315685:T103M;ENSP00000376211:T25M	ENSP00000315685:T103M	T	+	2	0	BAIAP2	76674077	0.012000	0.17670	0.020000	0.16555	0.043000	0.13939	1.261000	0.32980	1.013000	0.39391	0.655000	0.94253	ACG		0.602	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			4	72	0	0	0	1	0	4	72				
NUP210	23225	broad.mit.edu	37	3	13363258	13363258	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13363258G>C	ENST00000254508.5	-	36	5075	c.4993C>G	c.(4993-4995)Ctg>Gtg	p.L1665V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1665					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGACCACCAGAGCTGTCTTC	0.582																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4993-4995)Ctg>Gtg		nucleoporin 210kDa							166.0	161.0	163.0					3																	13363258		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13363258G>C	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4993C>G	3.37:g.13363258G>C	ENSP00000254508:p.Leu1665Val						p.L1665V	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			36	5075	-	all_neural(104;0.187)		1665					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.4993C>G	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.011477	0.00422	.	.	ENSG00000132182	ENST00000254508	T	0.05447	3.44	5.45	4.58	0.56647	.	0.000000	0.64402	D	0.000004	T	0.04952	0.0133	L	0.43646	1.37	0.46203	D	0.998927	B	0.28512	0.214	B	0.20767	0.031	T	0.11743	-1.0575	10	0.02654	T	1	-16.5418	9.8185	0.40867	0.0726:0.0:0.7879:0.1395	.	1665	Q8TEM1	PO210_HUMAN	V	1665	ENSP00000254508:L1665V	ENSP00000254508:L1665V	L	-	1	2	NUP210	13338258	1.000000	0.71417	0.851000	0.33527	0.045000	0.14185	3.651000	0.54431	1.299000	0.44798	-0.218000	0.12543	CTG		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		72	175	0	0	0	1	0	72	175				
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(280-282)ccA>ccC		arrestin, beta 2							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000381488.6_Silent_p.P79P	p.P94P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	515	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		5	21	0	0	0	1	0	5	21				
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(103-105)tGt>tTt		calcium and integrin binding 1 (calmyrin)							49.0	48.0	48.0					15																	90775542		2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90775542C>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.104G>T	15.37:g.90775542C>A	ENSP00000333873:p.Cys35Phe						p.C35F	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		3	265	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		35					B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.104G>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	C	8.365	0.833964	0.16820	.	.	ENSG00000185043	ENST00000328649	T	0.09073	3.02	5.54	3.54	0.40534	EF-hand-like domain (1);	0.296074	0.39687	N	0.001295	T	0.07143	0.0181	L	0.34521	1.04	0.35816	D	0.824264	B	0.27700	0.186	B	0.33690	0.168	T	0.25117	-1.0141	10	0.11485	T	0.65	-6.3598	10.3555	0.43960	0.1513:0.7031:0.1456:0.0	.	35	Q99828	CIB1_HUMAN	F	35	ENSP00000333873:C35F	ENSP00000333873:C35F	C	-	2	0	CIB1	88576546	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.553000	0.23391	1.543000	0.49345	0.650000	0.86243	TGT		0.587	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			6	38	1	0	6.53348e-20	1	6.89148e-20	6	38				
ZNF280C	55609	broad.mit.edu	37	X	129354401	129354401	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:129354401C>G	ENST00000370978.4	-	13	1602	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAGCTTTCTCCTTGCTGGTCA	0.383																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1447-1449)aaG>aaC		zinc finger protein 280C							146.0	129.0	135.0					X																	129354401		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129354401C>G	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1449G>C	X.37:g.129354401C>G	ENSP00000360017:p.Lys483Asn						p.K483N	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			13	1602	-			483					A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.1449G>C	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904393	0.33628	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.10668	4.14;2.85	3.83	-1.14	0.09741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.24812	0.0602	M	0.82517	2.595	0.30772	N	0.74294	P;P	0.51653	0.947;0.905	P;P	0.55087	0.768;0.768	T	0.23368	-1.0190	9	0.87932	D	0	.	8.7249	0.34463	0.0:0.5187:0.0:0.4813	.	434;483	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	N	434;483;434	ENSP00000360017:K483N;ENSP00000408521:K434N	ENSP00000066465:K434N	K	-	3	2	ZNF280C	129182082	1.000000	0.71417	0.990000	0.47175	0.072000	0.16883	1.269000	0.33074	-0.273000	0.09246	0.429000	0.28392	AAG		0.383	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		5	108	0	0	0	1	0	5	108				
PPM1J	333926	broad.mit.edu	37	1	113257684	113257684	+	Silent	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:113257684C>T	ENST00000309276.6	-	1	415	c.240G>A	c.(238-240)ctG>ctA	p.L80L	PPM1J_ENST00000464951.1_5'UTR|PPM1J_ENST00000359994.4_5'Flank|RP11-426L16.9_ENST00000566195.1_RNA	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	80					protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCGCGTCGCAGCCCCCCGG	0.741																																						ENST00000309276.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(238-240)ctG>ctA		protein phosphatase, Mg2+/Mn2+ dependent, 1J							6.0	7.0	7.0					1																	113257684		2076	4119	6195	SO:0001819	synonymous_variant	333926							g.chr1:113257684C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.240G>A	1.37:g.113257684C>T						PPM1J_ENST00000464951.1_5'UTR	p.L80L	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	415	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	80					B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Silent	SNP	ENST00000309276.6	37	c.240G>A	CCDS855.2																																																																																				0.741	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167		3	15	0	0	0	1	0	3	15				
DAW1	164781	broad.mit.edu	37	2	228770991	228770991	+	Silent	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:228770991C>T	ENST00000309931.2	+	9	878	c.795C>T	c.(793-795)agC>agT	p.S265S	DAW1_ENST00000545118.1_Silent_p.S250S|DAW1_ENST00000373666.2_Silent_p.S265S	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	265						cilium (GO:0005929)											CTGAGATTAGCAGTGCCTCAT	0.318																																						ENST00000373666.2																			0											c.(793-795)agC>agT		dynein assembly factor with WDR repeat domains 1							176.0	178.0	177.0					2																	228770991		2203	4299	6502	SO:0001819	synonymous_variant	164781							g.chr2:228770991C>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.795C>T	2.37:g.228770991C>T						DAW1_ENST00000309931.2_Silent_p.S265S|DAW1_ENST00000545118.1_Silent_p.S250S	p.S265S							9	1431	+								Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	c.795C>T	CCDS2470.1																																																																																				0.318	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		4	75	0	0	0	1	0	4	75				
SLC5A8	160728	broad.mit.edu	37	12	101577988	101577988	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:101577988A>T	ENST00000536262.2	-	8	1534	c.976T>A	c.(976-978)Ttg>Atg	p.L326M		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGTACCAAATAAGGCATG	0.363																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(976-978)Ttg>Atg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							65.0	63.0	64.0					12																	101577988		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101577988A>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.976T>A	12.37:g.101577988A>T	ENSP00000445340:p.Leu326Met						p.L326M	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			8	1534	-			326						Missense_Mutation	SNP	ENST00000536262.2	37	c.976T>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183142	0.57800	.	.	ENSG00000256870	ENST00000536262	D	0.95885	-3.84	5.66	-1.07	0.09968	.	0.073309	0.53938	N	0.000044	D	0.94182	0.8133	L	0.55017	1.72	0.46241	D	0.99894	P	0.42409	0.779	P	0.51974	0.686	D	0.89905	0.4047	10	0.54805	T	0.06	.	6.9652	0.24619	0.4673:0.0:0.4156:0.1171	.	326	Q8N695	SC5A8_HUMAN	M	326	ENSP00000445340:L326M	ENSP00000445340:L326M	L	-	1	2	SLC5A8	100102119	0.408000	0.25360	0.663000	0.29738	0.986000	0.74619	0.190000	0.17057	-0.426000	0.07360	-0.290000	0.09829	TTG		0.363	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		3	29	0	0	0	1	0	3	29				
MYEOV	26579	broad.mit.edu	37	11	69063311	69063311	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:69063311C>T	ENST00000308946.3	+	3	844	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	MYEOV_ENST00000441339.2_Missense_Mutation_p.R132W|MYEOV_ENST00000535407.1_Missense_Mutation_p.R74W	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	132										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGACGTGTCCCGGGCCAGGAG	0.617																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(220-222)Cgg>Tgg		myeloma overexpressed							147.0	142.0	143.0					11																	69063311		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063311C>T	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.394C>T	11.37:g.69063311C>T	ENSP00000308330:p.Arg132Trp					MYEOV_ENST00000441339.2_Missense_Mutation_p.R132W|MYEOV_ENST00000308946.3_Missense_Mutation_p.R132W	p.R74W			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	863	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		132					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.220C>T	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165196	0.21538	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.26067	1.77;1.77;1.76	1.4	-0.632	0.11523	.	.	.	.	.	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B	0.31241	0.315	B	0.16722	0.016	T	0.19844	-1.0293	9	0.87932	D	0	.	3.8725	0.09042	0.0:0.5246:0.0:0.4754	.	132	Q96EZ4	MYEOV_HUMAN	W	132;132;74	ENSP00000412482:R132W;ENSP00000308330:R132W;ENSP00000438100:R74W	ENSP00000308330:R132W	R	+	1	2	MYEOV	68819887	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.968000	0.01507	-0.218000	0.10018	-0.350000	0.07774	CGG		0.617	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			19	168	0	0	0	1	0	19	168				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	176	0	0	0	1	0	5	176				
BRPF3	27154	broad.mit.edu	37	6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGGCGGGGTGAGTGGCTCC	0.547																																						ENST00000357641.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						c.(1309-1311)gTg>gGg		bromodomain and PHD finger containing, 3							78.0	82.0	81.0					6																	36169409		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36169409T>G	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1310T>G	6.37:g.36169409T>G	ENSP00000350267:p.Val437Gly					BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G	p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN			2	1563	+			437					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1310T>G	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	T	0.784	-0.761217	0.02996	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.16196	2.55;2.47;2.47;2.47;2.47;2.36	5.39	0.376	0.16193	.	1.130890	0.06499	N	0.735957	T	0.01870	0.0059	N	0.04508	-0.205	0.18873	N	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46091	-0.9216	10	0.22706	T	0.39	.	4.7221	0.12924	0.159:0.4172:0.0:0.4238	.	437;437;437	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	G	437	ENSP00000350267:V437G;ENSP00000345419:V437G;ENSP00000434501:V437G;ENSP00000445352:V437G;ENSP00000387368:V437G;ENSP00000436504:V437G	ENSP00000345419:V437G	V	+	2	0	BRPF3	36277387	0.531000	0.26338	0.547000	0.28179	0.442000	0.32017	0.263000	0.18478	0.117000	0.18138	0.459000	0.35465	GTG		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		13	36	0	0	0	1	0	13	36				
KRTAP5-5	439915	broad.mit.edu	37	11	1651483	1651483	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:1651483G>C	ENST00000399676.2	+	1	451	c.413G>C	c.(412-414)gGc>gCc	p.G138A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	138	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G138A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		TCCAAGGGGGGCTGTGGCTCC	0.692																																						ENST00000399676.2																			1	Substitution - Missense(1)	p.G138A(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(412-414)gGc>gCc		keratin associated protein 5-5							13.0	19.0	17.0					11																	1651483		2129	4198	6327	SO:0001583	missense	439915					keratin filament		g.chr11:1651483G>C	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.413G>C	11.37:g.1651483G>C	ENSP00000382584:p.Gly138Ala						p.G138A	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	451	+		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)	138			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.413G>C	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.606108	0.00121	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01203	5.18	3.03	2.11	0.27256	.	.	.	.	.	T	0.01695	0.0054	M	0.82823	2.61	0.22601	N	0.998945	B	0.25667	0.131	B	0.19666	0.026	T	0.52366	-0.8585	9	0.02654	T	1	.	6.1318	0.20209	0.1478:0.0:0.8522:0.0	.	138	Q701N2	KRA55_HUMAN	A	138;109	ENSP00000382584:G138A	ENSP00000382584:G138A	G	+	2	0	KRTAP5-5	1608059	1.000000	0.71417	0.411000	0.26484	0.028000	0.11728	2.598000	0.46223	0.497000	0.27926	-0.360000	0.07572	GGC		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			4	49	0	0	0	1	0	4	49				
DPYSL5	56896	broad.mit.edu	37	2	27164854	27164854	+	Missense_Mutation	SNP	G	G	A	rs41288787		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:27164854G>A	ENST00000288699.6	+	10	1284	c.1126G>A	c.(1126-1128)Gtt>Att	p.V376I	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V376I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	376					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTGTGGCCGTTACCAGTTC	0.542											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		20109	0.0		0.001	False		,,,				2504	0.0					ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1126-1128)Gtt>Att		dihydropyrimidinase-like 5							159.0	152.0	154.0					2																	27164854		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27164854G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1126G>A	2.37:g.27164854G>A	ENSP00000288699:p.Val376Ile		OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V376I	p.V376I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			10	1284	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		376					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1126G>A	CCDS1730.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.54	2.862658	0.51482	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.90069	-2.61;-2.61	5.32	5.32	0.75619	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.057230	0.64402	D	0.000001	D	0.84433	0.5471	L	0.46614	1.455	0.40878	D	0.983972	B	0.11235	0.004	B	0.26864	0.074	T	0.78765	-0.2076	10	0.33940	T	0.23	-22.5976	8.5514	0.33453	0.1662:0.0:0.8338:0.0	rs41288787	376	Q9BPU6	DPYL5_HUMAN	I	376	ENSP00000288699:V376I;ENSP00000385549:V376I	ENSP00000288699:V376I	V	+	1	0	DPYSL5	27018358	1.000000	0.71417	0.366000	0.25914	0.945000	0.59286	6.581000	0.74045	2.667000	0.90743	0.561000	0.74099	GTT		0.542	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		4	168	0	0	0	1	0	4	168				
WDR92	116143	broad.mit.edu	37	2	68365875	68365875	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:68365875C>T	ENST00000295121.6	-	5	748	c.632G>A	c.(631-633)gGg>gAg	p.G211E	WDR92_ENST00000409164.1_Splice_Site_p.G211E|WDR92_ENST00000406245.2_Splice_Site_p.G110E|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	211					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						GTACTTTACCCCATTTTTGAT	0.393																																						ENST00000295121.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.e5+1		WD repeat domain 92							184.0	189.0	187.0					2																	68365875		2203	4300	6503	SO:0001630	splice_region_variant	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68365875C>T	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.633+1G>A	2.37:g.68365875C>T						WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Splice_Site_p.G211_splice|WDR92_ENST00000406245.2_Splice_Site_p.G110_splice	p.G211_splice	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN			5	748	-			211					Q96CR6	Splice_Site	SNP	ENST00000295121.6	37	c.633_splice	CCDS1884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.339638|5.339638	0.95783|0.95783	.|.	.|.	ENSG00000243667|ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164|ENST00000457114	T;T;T|T	0.65732|0.70986	1.55;1.55;-0.17|-0.53	6.03|6.03	6.03|6.03	0.97812|0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000008|0.000008	D|D	0.89206|0.89206	0.6649|0.6649	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90732|0.90732	0.4643|0.4643	10|8	0.66056|0.87932	D|D	0.02|0	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	211|.	Q96MX6|.	WDR92_HUMAN|.	E|R	211;110;211|15	ENSP00000295121:G211E;ENSP00000384518:G110E;ENSP00000386746:G211E|ENSP00000410301:G15R	ENSP00000295121:G211E|ENSP00000410301:G15R	G|G	-|-	2|1	0|0	WDR92|WDR92	68219379|68219379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	7.605000|7.605000	0.82844|0.82844	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.393	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458	Missense_Mutation	4	134	0	0	0	1	0	4	134				
ACKR2	1238	broad.mit.edu	37	3	42906981	42906981	+	Silent	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:42906981C>T	ENST00000422265.1	+	3	1162	c.987C>T	c.(985-987)gcC>gcT	p.A329A	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.A329A|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.A329A	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	329	C-terminal cytoplasmic tail.				chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TCCTGGCTGCCGTGCTTGGAT	0.557																																						ENST00000422265.1																			0											c.(985-987)gcC>gcT		atypical chemokine receptor 2							111.0	91.0	98.0					3																	42906981		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906981C>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.987C>T	3.37:g.42906981C>T						ACKR2_ENST00000273145.2_Silent_p.A329A|ACKR2_ENST00000442925.1_Silent_p.A329A|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	p.A329A	NM_001296.4	NP_001287.2					3	1162	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.987C>T	CCDS2706.1																																																																																				0.557	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		8	100	0	0	0	1	0	8	100				
MED23	9439	broad.mit.edu	37	6	131913582	131913582	+	Silent	SNP	T	T	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:131913582T>C	ENST00000368068.3	-	25	3596	c.3417A>G	c.(3415-3417)agA>agG	p.R1139R	MED23_ENST00000368060.3_Silent_p.R1139R|MED23_ENST00000368058.1_Silent_p.R1145R|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000403834.3_Silent_p.R1145R|MED23_ENST00000545957.1_Silent_p.R780R|MED23_ENST00000354577.4_Silent_p.R1145R	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1139					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TAATGTTCTCTCTTGGCACTA	0.353																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(3433-3435)agA>agG		mediator complex subunit 23							152.0	139.0	143.0					6																	131913582		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131913582T>C	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3417A>G	6.37:g.131913582T>C						MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Silent_p.R1139R|MED23_ENST00000354577.4_Silent_p.R1145R|MED23_ENST00000545957.1_Silent_p.R780R|MED23_ENST00000368068.3_Silent_p.R1139R|MED23_ENST00000368058.1_Silent_p.R1145R	p.R1145R			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	25	3608	-	Breast(56;0.0753)		1139					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.3435A>G	CCDS5147.1																																																																																				0.353	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			18	76	0	0	0	1	0	18	76				
SERPINB13	5275	broad.mit.edu	37	18	61262398	61262398	+	Missense_Mutation	SNP	G	G	A	rs139404423		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr18:61262398G>A	ENST00000344731.5	+	7	853	c.751G>A	c.(751-753)Gac>Aac	p.D251N	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	251					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCTGCCCAACGACATCGATGG	0.458																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(751-753)Gac>Aac		serpin peptidase inhibitor, clade B (ovalbumin), member 13		G	ASN/ASP	0,4406		0,0,2203	150.0	139.0	143.0		751	4.8	1.0	18	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB13	NM_012397.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	251/392	61262398	1,13005	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61262398G>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.751G>A	18.37:g.61262398G>A	ENSP00000341584:p.Asp251Asn					SERPINB13_ENST00000269489.5_Intron	p.D251N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			7	853	+			251					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.751G>A	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731638	0.69189	0.0	1.16E-4	ENSG00000197641	ENST00000539341;ENST00000344731;ENST00000415733	D;D	0.84223	-1.82;-1.82	5.63	4.76	0.60689	Serpin domain (3);	0.102610	0.43579	D	0.000547	D	0.89532	0.6742	L	0.49256	1.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.971;0.947;0.999	D	0.89011	0.3428	10	0.44086	T	0.13	.	13.9217	0.63935	0.0733:0.0:0.9267:0.0	.	260;169;251	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	N	169;251;100	ENSP00000341584:D251N;ENSP00000391156:D100N	ENSP00000341584:D251N	D	+	1	0	SERPINB13	59413378	0.940000	0.31905	0.995000	0.50966	0.971000	0.66376	4.777000	0.62361	1.370000	0.46153	0.655000	0.94253	GAC		0.458	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		4	108	0	0	0	1	0	4	108				
GRHL2	79977	broad.mit.edu	37	8	102582593	102582593	+	Silent	SNP	T	T	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr8:102582593T>G	ENST00000251808.3	+	5	1043	c.705T>G	c.(703-705)gcT>gcG	p.A235A	GRHL2_ENST00000395927.1_Silent_p.A219A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	235					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGTTGGGGCTGAGGAGTACA	0.343																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(703-705)gcT>gcG		grainyhead-like 2 (Drosophila)							166.0	165.0	165.0					8																	102582593		2203	4300	6503	SO:0001819	synonymous_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102582593T>G	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.705T>G	8.37:g.102582593T>G						GRHL2_ENST00000395927.1_Silent_p.A219A	p.A235A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		5	1043	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		235					A1L303|Q6NT03|Q9H8B8	Silent	SNP	ENST00000251808.3	37	c.705T>G	CCDS34931.1																																																																																				0.343	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		5	80	0	0	0	1	0	5	80				
SEC31A	22872	broad.mit.edu	37	4	83742201	83742201	+	Silent	SNP	T	T	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:83742201T>G	ENST00000395310.2	-	26	3654	c.3472A>C	c.(3472-3474)Agg>Cgg	p.R1158R	SEC31A_ENST00000348405.4_Silent_p.R1119R|SEC31A_ENST00000509142.1_Silent_p.R1044R|SEC31A_ENST00000264405.5_Silent_p.R907R|SEC31A_ENST00000505472.1_Silent_p.R1189R|SEC31A_ENST00000355196.2_Silent_p.R1158R|SEC31A_ENST00000311785.7_Silent_p.R1044R|SEC31A_ENST00000505984.1_Silent_p.R1104R|SEC31A_ENST00000508502.1_Silent_p.R1143R|SEC31A_ENST00000443462.2_Silent_p.R1138R|SEC31A_ENST00000500777.2_Silent_p.R1005R|SEC31A_ENST00000513858.1_Silent_p.R1005R|SEC31A_ENST00000432794.1_Silent_p.R1171R|SEC31A_ENST00000326950.5_Silent_p.R1119R|SEC31A_ENST00000448323.1_Silent_p.R1158R	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1158					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTCTGTTCCCTAAGTTTATCA	0.343																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3511-3513)Agg>Cgg		SEC31 homolog A (S. cerevisiae)							198.0	208.0	205.0					4																	83742201		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83742201T>G	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3472A>C	4.37:g.83742201T>G						SEC31A_ENST00000509142.1_Silent_p.R1044R|SEC31A_ENST00000508502.1_Silent_p.R1143R|SEC31A_ENST00000500777.2_Silent_p.R1005R|SEC31A_ENST00000264405.5_Silent_p.R907R|SEC31A_ENST00000395310.2_Silent_p.R1158R|SEC31A_ENST00000505984.1_Silent_p.R1104R|SEC31A_ENST00000326950.5_Silent_p.R1119R|SEC31A_ENST00000505472.1_Silent_p.R1189R|SEC31A_ENST00000443462.2_Silent_p.R1138R|SEC31A_ENST00000348405.4_Silent_p.R1119R|SEC31A_ENST00000355196.2_Silent_p.R1158R|SEC31A_ENST00000448323.1_Silent_p.R1158R|SEC31A_ENST00000311785.7_Silent_p.R1044R|SEC31A_ENST00000513858.1_Silent_p.R1005R	p.R1171R			O94979	SC31A_HUMAN			27	3674	-		Hepatocellular(203;0.114)	1158					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.3511A>C	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	T	9.637	1.138065	0.21123	.	.	ENSG00000138674	ENST00000503937	T	0.70282	-0.47	5.62	4.42	0.53409	.	.	.	.	.	T	0.78541	0.4299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79667	-0.1708	6	0.87932	D	0	-13.4754	11.6974	0.51551	0.0:0.0:0.2815:0.7185	.	.	.	.	F	320	ENSP00000422371:L320F	ENSP00000422371:L320F	L	-	3	2	SEC31A	83961225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.621000	0.36986	0.936000	0.37367	0.533000	0.62120	TTA		0.343	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		43	111	0	0	0	1	0	43	111				
TOMM70A	9868	broad.mit.edu	37	3	100096610	100096610	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:100096610T>C	ENST00000284320.5	-	6	1479	c.1031A>G	c.(1030-1032)aAt>aGt	p.N344S		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	344					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGCATTGGCATTGCCAATAAG	0.348																																						ENST00000284320.5																			0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(1030-1032)aAt>aGt		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							183.0	180.0	181.0					3																	100096610		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100096610T>C	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1031A>G	3.37:g.100096610T>C	ENSP00000284320:p.Asn344Ser						p.N344S	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN			6	1479	-			344					D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1031A>G	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	T	7.179	0.589130	0.13812	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.53640	0.61	5.96	2.31	0.28768	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.208622	0.56097	N	0.000023	T	0.28333	0.0700	L	0.28115	0.83	0.45118	D	0.998134	B	0.27882	0.192	B	0.19666	0.026	T	0.05257	-1.0896	10	0.14656	T	0.56	-11.762	9.3111	0.37905	0.0:0.206:0.0:0.794	.	344	O94826	TOM70_HUMAN	S	344;237	ENSP00000284320:N344S	ENSP00000284320:N344S	N	-	2	0	TOMM70A	101579300	1.000000	0.71417	0.982000	0.44146	0.939000	0.58152	3.818000	0.55678	0.168000	0.19655	-0.351000	0.07748	AAT		0.348	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			26	52	0	0	0	1	0	26	52				
TMPRSS15	5651	broad.mit.edu	37	21	19647644	19647644	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr21:19647644G>T	ENST00000284885.3	-	24	2807	c.2774C>A	c.(2773-2775)gCa>gAa	p.A925E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	925	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAATATGTTTGCAGTAGTACC	0.398																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2773-2775)gCa>gAa		transmembrane protease, serine 15							109.0	98.0	102.0					21																	19647644		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19647644G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2774C>A	21.37:g.19647644G>T	ENSP00000284885:p.Ala925Glu						p.A925E	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			24	2807	-			925			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2774C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907449	0.52333	.	.	ENSG00000154646	ENST00000284885	D	0.88354	-2.37	5.75	3.93	0.45458	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.215520	0.39985	N	0.001202	D	0.85626	0.5740	L	0.46885	1.475	0.09310	N	1	P	0.48294	0.908	P	0.44359	0.447	T	0.76940	-0.2773	9	.	.	.	.	11.2104	0.48795	0.15:0.0:0.85:0.0	.	925	P98073	ENTK_HUMAN	E	925	ENSP00000284885:A925E	.	A	-	2	0	TMPRSS15	18569515	0.982000	0.34865	0.033000	0.17914	0.896000	0.52359	4.078000	0.57606	0.872000	0.35775	0.650000	0.86243	GCA		0.398	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		6	59	1	0	0.000157383	1	0.000159454	6	59				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261778	39261778	+	Silent	SNP	A	A	G	rs556157666	byFrequency	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:39261778A>G	ENST00000391415.1	+	1	195	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													G|||	380	0.0758786	0.171	0.0749	5008	,	,		16398	0.0714		0.0119	False		,,,				2504	0.0184					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(136-138)gtA>gtG		keratin associated protein 4-9							15.0	22.0	20.0					17																	39261778		690	1591	2281	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39261778A>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.138A>G	17.37:g.39261778A>G							p.V46V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	195	+			46			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.138A>G	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		9	41	0	0	0	1	0	9	41				
TMEM144	55314	broad.mit.edu	37	4	159138571	159138571	+	Splice_Site	SNP	A	A	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:159138571A>G	ENST00000296529.6	+	5	851	c.331A>G	c.(331-333)Agg>Ggg	p.R111G	TMEM144_ENST00000514558.1_Splice_Site_p.R111G	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	111						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGCAAGCTCAAGGTAATTCAA	0.378																																						ENST00000514558.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.e4+1		transmembrane protein 144																																				SO:0001630	splice_region_variant	55314					integral to membrane		g.chr4:159138571A>G	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.332+1A>G	4.37:g.159138571A>G						TMEM144_ENST00000296529.6_Splice_Site_p.R111_splice	p.R111_splice			Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	4	2127	+	all_hematologic(180;0.24)	Renal(120;0.0854)	111					D3DP24|Q49A05|Q9NUT3	Splice_Site	SNP	ENST00000296529.6	37	c.332_splice	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193240	0.78902	.	.	ENSG00000164124	ENST00000508243;ENST00000296529;ENST00000504569;ENST00000514558	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	M	0.88241	2.94	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.84741	0.0751	9	.	.	.	-18.0538	15.1534	0.72720	1.0:0.0:0.0:0.0	.	111	Q7Z5S9	TM144_HUMAN	G	111	ENSP00000422297:R111G;ENSP00000296529:R111G;ENSP00000422082:R111G;ENSP00000426211:R111G	.	R	+	1	2	TMEM144	159358021	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.626000	0.61269	2.225000	0.72522	0.533000	0.62120	AGG		0.378	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	Missense_Mutation	3	44	0	0	0	1	0	3	44				
CACNA1I	8911	broad.mit.edu	37	22	40066233	40066233	+	Missense_Mutation	SNP	G	G	A	rs199781624		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr22:40066233G>A	ENST00000402142.3	+	25	4385	c.4385G>A	c.(4384-4386)cGg>cAg	p.R1462Q	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1468Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1462Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1427Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1462					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AAGAAGCGCCGGAGTGAGTGG	0.667																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4402-4404)cGg>cAg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	G	GLN/ARG,GLN/ARG	0,4142		0,0,2071	41.0	45.0	44.0		4280,4385	4.0	1.0	22		44	1,8369		0,1,4184	yes	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	43,43	0,1,6255	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging	1427/2189,1462/2224	40066233	1,12511	2071	4185	6256	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40066233G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4385G>A	22.37:g.40066233G>A	ENSP00000385019:p.Arg1462Gln					CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1462Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1462Q	p.R1468Q			Q9P0X4	CAC1I_HUMAN			28	4403	+	Melanoma(58;0.0749)		1462					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.4403G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850564	0.91277	0.0	1.19E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97232	-4.28;-4.24;-4.27;-4.23;-4.3;-4.21	3.95	3.95	0.45737	.	0.140283	0.46442	D	0.000281	D	0.98046	0.9356	M	0.71206	2.165	0.58432	D	0.999992	D;D;D;D	0.89917	0.998;0.987;1.0;0.998	D;P;D;P	0.81914	0.986;0.638;0.995;0.74	D	0.99016	1.0816	10	0.66056	D	0.02	.	16.3466	0.83134	0.0:0.0:1.0:0.0	.	1427;1462;1427;1462	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	1462;1427;1462;1427;1468;1427	ENSP00000385019:R1462Q;ENSP00000384093:R1427Q;ENSP00000383887:R1462Q;ENSP00000385680:R1427Q;ENSP00000337829:R1468Q;ENSP00000383028:R1427Q	ENSP00000337829:R1468Q	R	+	2	0	CACNA1I	38396179	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	6.584000	0.74057	1.910000	0.55303	0.555000	0.69702	CGG		0.667	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		4	62	0	0	0	1	0	4	62				
F13B	2165	broad.mit.edu	37	1	197031010	197031010	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:197031010C>T	ENST00000367412.1	-	3	398	c.355G>A	c.(355-357)Gct>Act	p.A119T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACCCTGAAGCGCAACCATAA	0.403																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(355-357)Gct>Act		coagulation factor XIII, B polypeptide							136.0	113.0	121.0					1																	197031010		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197031010C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.355G>A	1.37:g.197031010C>T	ENSP00000356382:p.Ala119Thr						p.A119T	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			3	398	-			119			Sushi 2.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.355G>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	0.885	-0.727387	0.03158	.	.	ENSG00000143278	ENST00000367412	T	0.65178	-0.14	5.85	-1.28	0.09318	Complement control module (2);Sushi/SCR/CCP (3);	1.225850	0.06381	N	0.715225	T	0.34658	0.0905	N	0.04768	-0.165	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.12268	-1.0554	10	0.18276	T	0.48	.	4.3646	0.11218	0.3183:0.3207:0.0:0.361	.	119	P05160	F13B_HUMAN	T	119	ENSP00000356382:A119T	ENSP00000356382:A119T	A	-	1	0	F13B	195297633	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.804000	0.04535	-0.542000	0.06249	0.655000	0.94253	GCT		0.403	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		4	30	0	0	0	1	0	4	30				
VIL1	7429	broad.mit.edu	37	2	219293033	219293033	+	Silent	SNP	G	G	A	rs375941888		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:219293033G>A	ENST00000248444.5	+	6	628	c.540G>A	c.(538-540)ccG>ccA	p.P180P	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.P180P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	180	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.P180P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAATGGACCGGAAAGCACCC	0.572																																						ENST00000248444.5																			1	Substitution - coding silent(1)	p.P180P(1)	prostate(1)	NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(538-540)ccG>ccA		villin 1		G		0,4406		0,0,2203	112.0	106.0	108.0		540	-9.7	0.0	2		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VIL1	NM_007127.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		180/828	219293033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219293033G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.540G>A	2.37:g.219293033G>A						VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.P180P	p.P180P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	628	+		Renal(207;0.0474)	180			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.540G>A	CCDS2417.1																																																																																				0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		4	62	0	0	0	1	0	4	62				
XG	7499	broad.mit.edu	37	X	2729413	2729413	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:2729413C>G	ENST00000381174.5	+	9	671	c.446C>G	c.(445-447)tCc>tGc	p.S149C	XG_ENST00000419513.2_Missense_Mutation_p.S164C|snoU13_ENST00000516039.1_RNA|XG_ENST00000426774.1_Missense_Mutation_p.S150C			P55808	XG_HUMAN	Xg blood group	149						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCATCGTATCCGTGGTGGTG	0.448																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(448-450)tCc>tGc		Xg blood group							65.0	59.0	61.0					X																	2729413		2203	4298	6501	SO:0001583	missense	7499					integral to membrane|plasma membrane		g.chrX:2729413C>G	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.446C>G	X.37:g.2729413C>G	ENSP00000370566:p.Ser149Cys					XG_ENST00000381174.5_Missense_Mutation_p.S149C|XG_ENST00000419513.2_Missense_Mutation_p.S164C	p.S150C	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			9	672	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	149					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	c.449C>G	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305681	0.23736	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484;ENST00000533923	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	3.6	2.71	0.32032	.	0.342724	0.26765	U	0.022613	T	0.34629	0.0904	M	0.67397	2.05	0.09310	N	1	B;B	0.22146	0.065;0.053	B;B	0.20384	0.029;0.017	T	0.35375	-0.9791	10	0.87932	D	0	.	8.6942	0.34284	0.0:0.77:0.23:0.0	.	149;164	P55808;P55808-3	XG_HUMAN;.	C	149;164;150;127;11	ENSP00000370566:S149C;ENSP00000411004:S164C;ENSP00000398503:S150C;ENSP00000430005:S127C	ENSP00000370566:S149C	S	+	2	0	XG	2739413	0.009000	0.17119	0.002000	0.10522	0.196000	0.23810	0.853000	0.27777	0.517000	0.28361	0.384000	0.25694	TCC		0.448	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		6	18	0	0	0	1	0	6	18				
VIL1	7429	broad.mit.edu	37	2	219299258	219299258	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:219299258T>C	ENST00000248444.5	+	14	1598	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	VIL1_ENST00000392114.2_Missense_Mutation_p.S193P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	504	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAGGCACCTCCCGAACTAA	0.607																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1510-1512)Tcc>Ccc		villin 1							65.0	65.0	65.0					2																	219299258		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219299258T>C	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1510T>C	2.37:g.219299258T>C	ENSP00000248444:p.Ser504Pro					VIL1_ENST00000392114.2_Missense_Mutation_p.S193P	p.S504P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1598	+		Renal(207;0.0474)	504			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1510T>C	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792143	0.70452	.	.	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.18016	2.58;2.58;2.24	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.45216	0.1331	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.53415	-0.8442	10	0.72032	D	0.01	-24.2484	13.6306	0.62193	0.0:0.0:0.0:1.0	.	504	P09327	VILI_HUMAN	P	504;193;73	ENSP00000248444:S504P;ENSP00000375962:S193P;ENSP00000394030:S73P	ENSP00000248444:S504P	S	+	1	0	VIL1	219007502	0.994000	0.37717	0.999000	0.59377	0.901000	0.52897	3.210000	0.51129	1.810000	0.52873	0.459000	0.35465	TCC		0.607	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		11	85	0	0	0	1	0	11	85				
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887|rs201639447	byFrequency	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1				espin pseudogene																		GTTGAGCAGCGGCTGAAACCC	0.687													g|||	1622	0.323882	0.1233	0.3703	5008	,	,		35506	0.4792		0.3429	False		,,,				2504	0.3824					ENST00000492551.1																			0																																																			0							g.chr1:17023110G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023110G>A								NR_026567.1						0	1753	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.687	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	26	0	0	0	1	0	4	26				
RASGRP3	25780	broad.mit.edu	37	2	33745641	33745641	+	Silent	SNP	T	T	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:33745641T>G	ENST00000403687.3	+	6	998	c.258T>G	c.(256-258)ccT>ccG	p.P86P	RASGRP3_ENST00000402538.3_Silent_p.P86P|RASGRP3_ENST00000407811.1_Silent_p.P86P	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	86	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGAAGTTTCCTGCAGAGTTTA	0.398																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(256-258)ccT>ccG		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							280.0	270.0	273.0					2																	33745641		1856	4093	5949	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745641T>G	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.258T>G	2.37:g.33745641T>G						RASGRP3_ENST00000402538.3_Silent_p.P86P|RASGRP3_ENST00000407811.1_Silent_p.P86P	p.P86P	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	998	+	all_hematologic(175;0.115)		86			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.258T>G	CCDS46256.1																																																																																				0.398	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		9	208	0	0	0	1	0	9	208				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	83	0	0	0	1	0	4	83				
DEDD2	162989	broad.mit.edu	37	19	42721095	42721095	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:42721095C>T	ENST00000595337.1	-	2	152	c.65G>A	c.(64-66)gGg>gAg	p.G22E	DEDD2_ENST00000598727.1_Missense_Mutation_p.G22E|DEDD2_ENST00000596251.1_Missense_Mutation_p.G22E|DEDD2_ENST00000336034.4_Missense_Mutation_p.G22E|DEDD2_ENST00000593804.1_Intron	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	22					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACAGCATCCCGTAGTAGTC	0.662																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(64-66)gGg>gAg		death effector domain containing 2							25.0	18.0	20.0					19																	42721095		2191	4296	6487	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42721095C>T	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.65G>A	19.37:g.42721095C>T	ENSP00000470082:p.Gly22Glu					DEDD2_ENST00000336034.4_Missense_Mutation_p.G22E|DEDD2_ENST00000598727.1_Missense_Mutation_p.G22E|DEDD2_ENST00000596251.1_Missense_Mutation_p.G22E|DEDD2_ENST00000593804.1_Intron	p.G22E	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			2	152	-		Prostate(69;0.0704)	22					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.65G>A	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044129	0.93685	.	.	ENSG00000160570	ENST00000336034	.	.	.	4.13	4.13	0.48395	.	0.053599	0.64402	D	0.000001	T	0.66896	0.2836	L	0.35854	1.095	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68588	-0.5369	9	0.49607	T	0.09	-38.6653	15.6753	0.77311	0.0:1.0:0.0:0.0	.	22;22	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	E	22	.	ENSP00000336972:G22E	G	-	2	0	DEDD2	47412935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.647000	0.67923	2.306000	0.77630	0.561000	0.74099	GGG		0.662	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		3	15	0	0	0	1	0	3	15				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			10	44	0	0	0	1	0	10	44				
NOL3	8996	broad.mit.edu	37	16	67208077	67208077	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:67208077G>A	ENST00000568146.1	+	2	58	c.5G>A	c.(4-6)gGc>gAc	p.G2D	NOL3_ENST00000432069.2_Missense_Mutation_p.G2D|NOL3_ENST00000564053.1_Missense_Mutation_p.G64D|NOL3_ENST00000268605.7_Missense_Mutation_p.G2D|KIAA0895L_ENST00000563831.2_5'Flank			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	2					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCGACAATGGGCAACGCGCAG	0.672																																						ENST00000432069.2																			0				ovary(1)	1						c.(4-6)gGc>gAc		nucleolar protein 3 (apoptosis repressor with CARD domain)							19.0	21.0	20.0					16																	67208077		1832	3911	5743	SO:0001583	missense	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208077G>A	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.5G>A	16.37:g.67208077G>A	ENSP00000454598:p.Gly2Asp					NOL3_ENST00000568146.1_Missense_Mutation_p.G2D|NOL3_ENST00000564053.1_Missense_Mutation_p.G64D|NOL3_ENST00000268605.7_Missense_Mutation_p.G2D	p.G2D	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	4	577	+		Ovarian(137;0.192)	2					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000568146.1	37	c.5G>A	CCDS58473.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001739	0.54254	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	.	.	.	4.57	3.62	0.41486	.	0.000000	0.50627	D	0.000117	T	0.53997	0.1831	N	0.19112	0.55	0.35245	D	0.778183	D;B	0.89917	1.0;0.266	D;B	0.80764	0.994;0.071	T	0.64711	-0.6343	9	0.87932	D	0	-10.0546	8.6313	0.33922	0.1085:0.0:0.8915:0.0	.	2;64	O60936;B4DFL0	NOL3_HUMAN;.	D	2	.	ENSP00000268605:G2D	G	+	2	0	NOL3	65765578	0.999000	0.42202	0.998000	0.56505	0.095000	0.18619	1.959000	0.40412	0.923000	0.37045	0.455000	0.32223	GGC		0.672	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1			11	29	0	0	0	1	0	11	29				
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|NRM_ENST00000470733.1_5'Flank	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		8	89						8	89	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	245						7	245	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-	rs143306820	byFrequency	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:91732039delG	ENST00000359028.2	+	46	11466	c.11241delG	c.(11239-11241)atgfs	p.M3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCCCGGATGGGGGGGCAGC	0.537			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11239-11241)atfs		A kinase (PRKA) anchor protein 9							109.0	116.0	114.0					7																	91732039		2203	4300	6503	SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732039delG	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11241delG	7.37:g.91732039delG	ENSP00000351922:p.Met3747fs					AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M3693fs	p.M3747fs			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		46	11466	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	ENST00000359028.2	37	c.11241delG																																																																																					0.537	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	1930						8	1930	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(712-714)cccfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117406_117407insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.714dupC	9.37:g.117410_117410dupG	ENSP00000371940:p.Pro238fs						p.P238fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1010_1011	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	238			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.713_714insC	CCDS34975.1																																																																																				0.743	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		7	92						7	92	---	---	---	---
GKAP1	80318	broad.mit.edu	37	9	86383805	86383821	+	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	AATAAGAATTTTATGAA	-			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:86383805_86383821delAATAAGAATTTTATGAA	ENST00000376371.2	-	8	1050_1066	c.650_666delTTCATAAAATTCTTATT	c.(649-666)gttcataaaattcttattfs	p.VHKILI217fs	GKAP1_ENST00000376365.3_Intron	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	217					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						GTTTTTCTCTAATAAGAATTTTATGAACATCATCTTC	0.318																																						ENST00000376371.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						c.(649-666)gfs		G kinase anchoring protein 1																																				SO:0001589	frameshift_variant	80318				signal transduction	Golgi apparatus		g.chr9:86383805_86383821delAATAAGAATTTTATGAA	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.650_666delTTCATAAAATTCTTATT	9.37:g.86383805_86383821delAATAAGAATTTTATGAA	ENSP00000365550:p.Val217fs					GKAP1_ENST00000376365.3_Intron	p.VHKILI217fs	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN			8	1050_1066	-			217					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Frame_Shift_Del	DEL	ENST00000376371.2	37	c.650_666delTTCATAAAATTCTTATT	CCDS35049.1																																																																																				0.318	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		8	35						8	35	---	---	---	---
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GT	rs61433517|rs71322752		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr22:25855682_25855683insGT	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CCTGGCAGCTGgtgtgtgtgtg	0.53																																						ENST00000354451.2																			0																																																			0							g.chr22:25855682_25855683insGT	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855691_25855692dupGT														0	366	+									RNA	INS	ENST00000609084.1	37																																																																																						0.530	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920179	76920180	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:76920179_76920180insC	ENST00000373344.5	-	11	4111_4112	c.3897_3898insG	c.(3895-3900)gggaaafs	p.K1300fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1262fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1300	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTTCTTTTTTTCCCTTCTTCTG	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3895-3900)ggaaaafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920179_76920180insC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3898dupG	X.37:g.76920182_76920182dupC	ENSP00000362441:p.Lys1300fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.GK1261fs	p.GK1299fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4111_4112	-			1299					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3897_3898insG	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		31	72						31	72	---	---	---	---
