#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
COL14A1	7373	broad.mit.edu	37	8	121290456	121290456	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr8:121290456G>A	ENST00000297848.3	+	27	3590	c.3320G>A	c.(3319-3321)gGa>gAa	p.G1107E	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1012E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1107E	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCATACAAAGGAGGAAATACA	0.333																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3319-3321)gGa>gAa		collagen, type XIV, alpha 1							57.0	59.0	58.0					8																	121290456		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121290456G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3320G>A	8.37:g.121290456G>A	ENSP00000297848:p.Gly1107Glu					COL14A1_ENST00000309791.4_Missense_Mutation_p.G1107E|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1012E	p.G1107E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		27	3590	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1107			VWFA 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3320G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983185	0.93044	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.82081	-1.57;-1.57;-1.57	5.7	5.7	0.88788	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91867	0.5504	10	0.59425	D	0.04	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	1107	Q05707	COEA1_HUMAN	E	1107;1107;1012	ENSP00000311809:G1107E;ENSP00000297848:G1107E;ENSP00000247781:G1012E	ENSP00000247781:G1012E	G	+	2	0	COL14A1	121359637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.837000	0.99465	2.692000	0.91855	0.650000	0.86243	GGA		0.333	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		24	45	0	0	0	1	0	24	45				
ATP10A	57194	broad.mit.edu	37	15	25971150	25971150	+	Silent	SNP	G	G	A	rs141485196		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr15:25971150G>A	ENST00000356865.6	-	5	1038	c.927C>T	c.(925-927)gaC>gaT	p.D309D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	309					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCAGAGCACGTCGCAGTTCA	0.562																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(925-927)gaC>gaT		ATPase, class V, type 10A		G		2,4404	4.2+/-10.8	0,2,2201	141.0	112.0	122.0		927	-7.6	0.4	15	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	ATP10A	NM_024490.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		309/1500	25971150	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25971150G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.927C>T	15.37:g.25971150G>A							p.D309D	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	5	1038	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	309					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.927C>T	CCDS32178.1																																																																																				0.562	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		26	95	0	0	0	1	0	26	95				
CAPN12	147968	broad.mit.edu	37	19	39234622	39234622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:39234622G>A	ENST00000328867.4	-	1	492	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	62	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCCCCAGCTGGTCATAGCCA	0.632																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(184-186)Cag>Tag		calpain 12							73.0	58.0	63.0					19																	39234622		2203	4300	6503	SO:0001587	stop_gained	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39234622G>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.184C>T	19.37:g.39234622G>A	ENSP00000331636:p.Gln62*					CAPN12_ENST00000601953.1_Intron	p.Q62*	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		1	492	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		62			Calpain catalytic.			Nonsense_Mutation	SNP	ENST00000328867.4	37	c.184C>T	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	g	36	5.691364	0.96793	.	.	ENSG00000182472	ENST00000328867	.	.	.	4.74	1.17	0.20885	.	0.684790	0.13832	N	0.359666	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	7.4993	0.27509	0.0:0.2802:0.4864:0.2334	.	.	.	.	X	62	.	ENSP00000331636:Q62X	Q	-	1	0	CAPN12	43926462	0.920000	0.31207	0.853000	0.33588	0.436000	0.31835	0.667000	0.25112	0.114000	0.18032	0.457000	0.33378	CAG		0.632	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			5	75	0	0	0	1	0	5	75				
EML3	256364	broad.mit.edu	37	11	62376848	62376848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:62376848C>A	ENST00000394773.2	-	6	1043	c.736G>T	c.(736-738)Gag>Tag	p.E246*	EML3_ENST00000278845.4_Nonsense_Mutation_p.E247*|EML3_ENST00000531557.1_Nonsense_Mutation_p.E29*|EML3_ENST00000494176.2_Nonsense_Mutation_p.E218*|ROM1_ENST00000534093.1_5'Flank|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000529309.1_Nonsense_Mutation_p.E246*|EML3_ENST00000438258.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	246						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGAGGGTCTCTGGCGGTGGG	0.582																																						ENST00000394773.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(736-738)Gag>Tag		echinoderm microtubule associated protein like 3							60.0	67.0	65.0					11																	62376848		2202	4299	6501	SO:0001587	stop_gained	256364					cytoplasm|microtubule	protein binding	g.chr11:62376848C>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.736G>T	11.37:g.62376848C>A	ENSP00000378254:p.Glu246*					EML3_ENST00000494176.2_Nonsense_Mutation_p.E218*|EML3_ENST00000278845.4_Nonsense_Mutation_p.E247*|EML3_ENST00000531557.1_Nonsense_Mutation_p.E29*|EML3_ENST00000529309.1_Nonsense_Mutation_p.E246*	p.E246*	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			6	1043	-			246					Q6ZQW7|Q8NA55	Nonsense_Mutation	SNP	ENST00000394773.2	37	c.736G>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.815724|5.815724	0.96982|0.96982	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309|ENST00000394776	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.236304|.	0.41605|.	D|.	0.000843|.	.|T	.|0.71685	.|0.3369	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72760	.|-0.4196	.|3	0.13108|.	T|.	0.6|.	-9.4372|-9.4372	15.5632|15.5632	0.76266|0.76266	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	246;247;29;218;246|240	.|.	ENSP00000278845:E247X|.	E|R	-|-	1|2	0|0	EML3|EML3	62133424|62133424	0.998000|0.998000	0.40836|0.40836	0.984000|0.984000	0.44739|0.44739	0.912000|0.912000	0.54170|0.54170	4.111000|4.111000	0.57838|0.57838	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.582	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		73	44	1	0	9.98788e-38	1	1.25443e-37	73	44				
AFF3	3899	broad.mit.edu	37	2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:100210742C>T	ENST00000409236.2	-	13	1493	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000317233.4_Missense_Mutation_p.A461T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.A486T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTAGAGGATGCCGGTTCAGCC	0.443																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.A486T(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1381-1383)Gca>Aca		AF4/FMR2 family, member 3							124.0	137.0	133.0					2																	100210742		2058	4218	6276	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210742C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1381G>A	2.37:g.100210742C>T	ENSP00000387207:p.Ala461Thr					AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T	p.A461T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1616	-			461					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1381G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959682	0.53400	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.87	5.87	0.94306	.	0.205024	0.35207	N	0.003365	T	0.72716	0.3495	L	0.51422	1.61	0.42120	D	0.991429	D;D;D	0.64830	0.994;0.959;0.976	D;P;P	0.66716	0.946;0.721;0.461	T	0.71692	-0.4516	10	0.45353	T	0.12	.	14.3946	0.67003	0.0:0.7418:0.2582:0.0	.	614;461;486	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	461;486;486;461;461;614;486	ENSP00000317421:A461T;ENSP00000348793:A486T;ENSP00000386834:A486T;ENSP00000387207:A461T	ENSP00000317421:A461T	A	-	1	0	AFF3	99577174	1.000000	0.71417	0.491000	0.27477	0.460000	0.32559	5.786000	0.69006	2.781000	0.95711	0.655000	0.94253	GCA		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		6	383	0	0	0	1	0	6	383				
OLFM3	118427	broad.mit.edu	37	1	102290593	102290593	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:102290593A>C	ENST00000338858.5	-	4	640	c.641T>G	c.(640-642)aTg>aGg	p.M214R	OLFM3_ENST00000359814.3_Missense_Mutation_p.M214R|OLFM3_ENST00000370103.4_Missense_Mutation_p.M194R|OLFM3_ENST00000536598.1_Missense_Mutation_p.M119R|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	214					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TAGCTTTTTCATGCAGTCACG	0.363																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(580-582)aTg>aGg		olfactomedin 3							126.0	121.0	122.0					1																	102290593		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290593A>C	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.641T>G	1.37:g.102290593A>C	ENSP00000345192:p.Met214Arg					OLFM3_ENST00000536598.1_Missense_Mutation_p.M119R|OLFM3_ENST00000338858.5_Missense_Mutation_p.M214R|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.M214R	p.M194R	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	794	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	214					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.581T>G		.	.	.	.	.	.	.	.	.	.	A	19.49	3.837067	0.71373	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.87491	-2.24;-2.26;-0.84;0.36	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90321	0.6972	M	0.70275	2.135	0.58432	D	0.999997	D;P	0.54047	0.964;0.932	P;P	0.60886	0.737;0.88	D	0.90471	0.4453	10	0.48119	T	0.1	.	15.9912	0.80206	1.0:0.0:0.0:0.0	.	194;214	Q5T3V6;Q96PB7	.;NOE3_HUMAN	R	65;194;214;119;214	ENSP00000359121:M194R;ENSP00000345192:M214R;ENSP00000443471:M119R;ENSP00000352867:M214R	ENSP00000345192:M214R	M	-	2	0	OLFM3	102063181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.320000	0.96346	2.172000	0.68678	0.533000	0.62120	ATG		0.363	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			38	50	0	0	0	1	0	38	50				
SLC2A6	11182	broad.mit.edu	37	9	136340583	136340583	+	Missense_Mutation	SNP	C	C	T	rs376983675		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:136340583C>T	ENST00000371899.4	-	5	790	c.713G>A	c.(712-714)cGt>cAt	p.R238H	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.R238H	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	238					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GTCCGTCCCACGCAGCCAGGC	0.667																																						ENST00000371899.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10						c.(712-714)cGt>cAt		solute carrier family 2 (facilitated glucose transporter), member 6							36.0	30.0	32.0					9																	136340583		2202	4299	6501	SO:0001583	missense	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136340583C>T	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.713G>A	9.37:g.136340583C>T	ENSP00000360966:p.Arg238His					SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.R238H	p.R238H	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	5	790	-			238					A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	c.713G>A	CCDS6975.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.827784|3.827784	0.71143|0.71143	.|.	.|.	ENSG00000160326|ENSG00000160326	ENST00000371897;ENST00000371899;ENST00000414172|ENST00000432868	T;T|D	0.76578|0.91180	-1.03;-1.03|-2.8	5.39|5.39	4.49|4.49	0.54785|0.54785	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.101382|.	0.64402|.	N|.	0.000002|.	D|D	0.94411|0.94411	0.8202|0.8202	M|M	0.88640|0.88640	2.97|2.97	0.54753|0.54753	D|D	0.999984|0.999984	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.93328|0.93328	0.6698|0.6698	10|7	0.87932|0.30854	D|T	0|0.27	.|.	12.9238|12.9238	0.58247|0.58247	0.0:0.9215:0.0:0.0785|0.0:0.9215:0.0:0.0785	.|.	238;238|.	Q9UGQ3-2;Q9UGQ3|.	.;GTR6_HUMAN|.	H|M	238;238;128|200	ENSP00000360964:R238H;ENSP00000360966:R238H|ENSP00000405124:V200M	ENSP00000360964:R238H|ENSP00000405124:V200M	R|V	-|-	2|1	0|0	SLC2A6|SLC2A6	135330404|135330404	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.365000|0.365000	0.29674|0.29674	7.307000|7.307000	0.78920|0.78920	1.256000|1.256000	0.44068|0.44068	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.667	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1	NM_017585		22	39	0	0	0	1	0	22	39				
RXFP3	51289	broad.mit.edu	37	5	33937022	33937022	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:33937022C>T	ENST00000330120.3	+	1	532	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	59					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGCCGGACGGCGCGCCGCCAG	0.697																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(175-177)ggC>ggT		relaxin/insulin-like family peptide receptor 3							51.0	64.0	60.0					5																	33937022		2202	4300	6502	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937022C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.177C>T	5.37:g.33937022C>T							p.G59G	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	532	+			59					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.177C>T	CCDS3900.1																																																																																				0.697	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		11	104	0	0	0	1	0	11	104				
CPXM2	119587	broad.mit.edu	37	10	125528044	125528044	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:125528044C>T	ENST00000241305.3	-	9	1451	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	433					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCCATTACCCCTTCGTAGGCC	0.612																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1297-1299)Ggg>Agg		carboxypeptidase X (M14 family), member 2							64.0	53.0	57.0					10																	125528044		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528044C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1297G>A	10.37:g.125528044C>T	ENSP00000241305:p.Gly433Arg					CPXM2_ENST00000368854.3_5'UTR	p.G433R	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1451	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	433					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1297G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562928	0.13498	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.03663	3.85	4.57	4.57	0.56435	Peptidase M14, carboxypeptidase A (1);	0.331275	0.32147	N	0.006503	T	0.04092	0.0114	L	0.41027	1.25	0.80722	D	1	B	0.17038	0.02	B	0.18263	0.021	T	0.44817	-0.9303	10	0.13853	T	0.58	-30.3986	13.6403	0.62246	0.0:0.845:0.155:0.0	.	433	Q8N436	CPXM2_HUMAN	R	433;266;433	ENSP00000241305:G433R	ENSP00000241305:G433R	G	-	1	0	CPXM2	125518034	1.000000	0.71417	0.999000	0.59377	0.411000	0.31082	4.513000	0.60476	2.518000	0.84900	0.655000	0.94253	GGG		0.612	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		23	41	0	0	0	1	0	23	41				
DYRK1B	9149	broad.mit.edu	37	19	40317350	40317350	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:40317350C>T	ENST00000593685.1	-	9	1841	c.1373G>A	c.(1372-1374)tGc>tAc	p.C458Y	DYRK1B_ENST00000348817.3_Missense_Mutation_p.C430Y|DYRK1B_ENST00000597639.1_Missense_Mutation_p.C430Y|DYRK1B_ENST00000323039.5_Missense_Mutation_p.C458Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.C418Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	458					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGAAGAGGGGCAGGTGTCGAG	0.697																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1372-1374)tGc>tAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							14.0	11.0	12.0					19																	40317350		2068	4095	6163	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40317350C>T	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1373G>A	19.37:g.40317350C>T	ENSP00000469863:p.Cys458Tyr					DYRK1B_ENST00000323039.5_Missense_Mutation_p.C458Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.C418Y|DYRK1B_ENST00000597639.1_Missense_Mutation_p.C430Y|DYRK1B_ENST00000348817.3_Missense_Mutation_p.C430Y	p.C458Y			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		9	1841	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		458					O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1373G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760181	0.31137	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.55930	0.5;0.49;0.5	4.64	3.56	0.40772	Protein kinase-like domain (1);	0.318051	0.29126	N	0.013075	T	0.28764	0.0713	N	0.08118	0	0.37904	D	0.931141	P;B;P	0.45715	0.865;0.432;0.568	B;B;B	0.39935	0.314;0.102;0.207	T	0.14559	-1.0468	10	0.16896	T	0.51	.	11.9444	0.52920	0.0:0.7755:0.2245:0.0	.	418;458;430	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	Y	458;430;418	ENSP00000312789:C458Y;ENSP00000221803:C430Y;ENSP00000403182:C418Y	ENSP00000312789:C458Y	C	-	2	0	DYRK1B	45009190	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.091000	0.50199	2.096000	0.63516	0.563000	0.77884	TGC		0.697	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	10	0	0	0	1	0	3	10				
AGPS	8540	broad.mit.edu	37	2	178301583	178301583	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:178301583A>C	ENST00000264167.4	+	4	679	c.533A>C	c.(532-534)gAg>gCg	p.E178A	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	178					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TATTCACAAGAGGCAGATGAT	0.289																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(532-534)gAg>gCg		alkylglycerone phosphate synthase							88.0	97.0	94.0					2																	178301583		2200	4295	6495	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178301583A>C	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.533A>C	2.37:g.178301583A>C	ENSP00000264167:p.Glu178Ala					AGPS_ENST00000409888.1_Intron	p.E178A	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		4	679	+			178					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.533A>C	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622842	0.46840	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.82711	-1.64	5.32	4.17	0.49024	FAD-binding, type 2 (1);	0.149312	0.64402	D	0.000020	T	0.80491	0.4633	M	0.68593	2.085	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.75816	-0.3184	10	0.48119	T	0.1	.	11.2436	0.48982	0.9275:0.0:0.0725:0.0	.	178	O00116	ADAS_HUMAN	A	178;48	ENSP00000264167:E178A	ENSP00000264167:E178A	E	+	2	0	AGPS	178009829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.960000	0.87893	0.953000	0.37825	0.533000	0.62120	GAG		0.289	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			8	101	0	0	0	1	0	8	101				
RNF130	55819	broad.mit.edu	37	5	179440198	179440198	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:179440198G>A	ENST00000261947.4	-	3	954	c.556C>T	c.(556-558)Cca>Tca	p.P186S	RNF130_ENST00000521389.1_Missense_Mutation_p.P186S|MIR340_ENST00000362125.1_RNA|RNF130_ENST00000522208.2_Missense_Mutation_p.P186S	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTTCGGTGGCATTCGAGTT	0.378																																					GBM(24;432 554 38471 39699 51728)	ENST00000522208.2																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(556-558)Cca>Tca		ring finger protein 130							116.0	103.0	107.0					5																	179440198		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179440198G>A	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.556C>T	5.37:g.179440198G>A	ENSP00000261947:p.Pro186Ser					RNF130_ENST00000261947.4_Missense_Mutation_p.P186S|RNF130_ENST00000521389.1_Missense_Mutation_p.P186S	p.P186S			Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	574	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	186						Missense_Mutation	SNP	ENST00000261947.4	37	c.556C>T		.	.	.	.	.	.	.	.	.	.	G	2.081	-0.410646	0.04799	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.05382	3.46;3.45;3.47	5.79	5.79	0.91817	.	0.292593	0.38492	N	0.001667	T	0.05456	0.0144	N	0.19112	0.55	0.09310	N	1	P;B	0.36789	0.57;0.004	B;B	0.29353	0.101;0.008	T	0.40308	-0.9570	10	0.31617	T	0.26	.	20.0294	0.97532	0.0:0.0:1.0:0.0	.	203;186	Q59EL1;Q86XS8	.;GOLI_HUMAN	S	186	ENSP00000429509:P186S;ENSP00000430237:P186S;ENSP00000261947:P186S	ENSP00000261947:P186S	P	-	1	0	RNF130	179372804	1.000000	0.71417	0.995000	0.50966	0.099000	0.18886	2.640000	0.46579	2.723000	0.93209	0.655000	0.94253	CCA		0.378	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		60	24	0	0	0	1	0	60	24				
OLFM2	93145	broad.mit.edu	37	19	9967987	9967987	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:9967987G>A	ENST00000264833.4	-	4	717	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R100W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	178					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCCATCACCCGTTGCTGCAGG	0.637																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(532-534)Cgg>Tgg		olfactomedin 2							88.0	75.0	79.0					19																	9967987		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9967987G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.532C>T	19.37:g.9967987G>A	ENSP00000264833:p.Arg178Trp					OLFM2_ENST00000590841.1_Missense_Mutation_p.R100W	p.R178W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			4	717	-			178					Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.532C>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679332	0.68042	.	.	ENSG00000105088	ENST00000264833	D	0.89343	-2.5	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	M	0.61703	1.905	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	D	0.90710	0.4627	9	.	.	.	.	8.6876	0.34247	0.0:0.0:0.7729:0.2271	.	178	O95897	NOE2_HUMAN	W	178	ENSP00000264833:R178W	.	R	-	1	2	OLFM2	9828987	0.977000	0.34250	1.000000	0.80357	0.984000	0.73092	1.052000	0.30429	1.988000	0.58038	0.462000	0.41574	CGG		0.637	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			9	107	0	0	0	1	0	9	107				
SYNPO2	171024	broad.mit.edu	37	4	119951472	119951472	+	Silent	SNP	A	A	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr4:119951472A>T	ENST00000429713.2	+	4	1724	c.1542A>T	c.(1540-1542)gtA>gtT	p.V514V	SYNPO2_ENST00000307142.4_Silent_p.V514V|SYNPO2_ENST00000434046.2_Silent_p.V514V|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	514						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGACAAGGTAGGTGGAACGC	0.517																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1540-1542)gtA>gtT		synaptopodin 2							77.0	62.0	67.0					4																	119951472		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951472A>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1542A>T	4.37:g.119951472A>T						SYNPO2_ENST00000429713.2_Silent_p.V514V|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.V514V	p.V514V	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	1738	+			514					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.1542A>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.864469	0.00547	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.4	-1.33	0.09172	.	.	.	.	.	T	0.23249	0.0562	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28586	-1.0039	4	.	.	.	1.3799	4.7247	0.12935	0.1449:0.4439:0.298:0.1131	.	.	.	.	W	466	.	.	R	+	1	2	SYNPO2	120170920	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.508000	0.06344	-0.301000	0.08882	-1.247000	0.01520	AGG		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			12	29	0	0	0	1	0	12	29				
SRP68	6730	broad.mit.edu	37	17	74068434	74068434	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:74068434C>T	ENST00000307877.2	-	1	300	c.139G>A	c.(139-141)Gga>Aga	p.G47R	GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000355113.5_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.G47R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GCCTTCGATCCGGCCGAAGGG	0.592																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(139-141)Gga>Aga		signal recognition particle 68kDa							203.0	208.0	206.0					17																	74068434		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068434C>T	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.139G>A	17.37:g.74068434C>T	ENSP00000312066:p.Gly47Arg					SRP68_ENST00000539137.1_Missense_Mutation_p.G47R|SRP68_ENST00000355113.5_5'UTR	p.G47R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	300	-			47					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.139G>A	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116537	0.56505	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	.	.	.	5.12	5.12	0.69794	.	0.135447	0.50627	D	0.000118	T	0.38241	0.1033	L	0.40543	1.245	0.80722	D	1	P;P	0.46706	0.883;0.883	B;B	0.36567	0.167;0.228	T	0.17379	-1.0371	9	0.21014	T	0.42	-20.4677	11.5897	0.50939	0.0:0.9176:0.0:0.0824	.	47;47	G3V1U4;Q9UHB9	.;SRP68_HUMAN	R	47	.	ENSP00000307756:G47R	G	-	1	0	SRP68	71580029	0.038000	0.19896	0.767000	0.31495	0.878000	0.50629	2.338000	0.43957	2.547000	0.85894	0.555000	0.69702	GGA		0.592	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		187	496	0	0	0	1	0	187	496				
GLI2	2736	broad.mit.edu	37	2	121748015	121748015	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:121748015C>A	ENST00000452319.1	+	14	4585	c.4525C>A	c.(4525-4527)Cag>Aag	p.Q1509K	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.Q1509K					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGAGGCCCCCCAGATTGACTT	0.622																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4525-4527)Cag>Aag		GLI family zinc finger 2							90.0	100.0	97.0					2																	121748015		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748015C>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4525C>A	2.37:g.121748015C>A	ENSP00000390436:p.Gln1509Lys					GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.Q1509K	p.Q1509K			P10070	GLI2_HUMAN			14	4585	+	Renal(3;0.0496)	Prostate(154;0.0623)	1509						Missense_Mutation	SNP	ENST00000452319.1	37	c.4525C>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075066	0.76415	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.17528	2.27;2.27	4.87	4.87	0.63330	.	0.139470	0.50627	D	0.000117	T	0.41811	0.1175	M	0.80982	2.52	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.65684	0.714;0.937	T	0.35251	-0.9796	10	0.59425	D	0.04	.	13.9007	0.63802	0.0:0.8477:0.1523:0.0	.	1509;1164	P10070;P10070-2	GLI2_HUMAN;.	K	1509	ENSP00000390436:Q1509K;ENSP00000354586:Q1509K	ENSP00000354586:Q1509K	Q	+	1	0	GLI2	121464485	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.818000	0.69236	2.525000	0.85131	0.555000	0.69702	CAG		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		10	374	1	0	1.58986e-06	1	1.72918e-06	10	374				
HDAC4	9759	broad.mit.edu	37	2	239975193	239975193	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:239975193C>A	ENST00000345617.3	-	26	3969	c.3178G>T	c.(3178-3180)Gcc>Tcc	p.A1060S	HDAC4_ENST00000543185.1_Missense_Mutation_p.A644S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1060	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GACAGCGAGGCCATGGCGGTG	0.667																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(3178-3180)Gcc>Tcc		histone deacetylase 4							46.0	54.0	51.0					2																	239975193		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239975193C>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.3178G>T	2.37:g.239975193C>A	ENSP00000264606:p.Ala1060Ser					HDAC4_ENST00000543185.1_Missense_Mutation_p.A644S	p.A1060S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	26	3969	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	1060			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.3178G>T	CCDS2529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.543916|5.543916	0.96488|0.96488	.|.	.|.	ENSG00000068024|ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185|ENST00000430200	T;T|.	0.71579|.	-0.22;-0.58|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.054732|.	0.64402|.	D|.	0.000001|.	T|T	0.78874|0.78874	0.4352|0.4352	M|M	0.85462|0.85462	2.755|2.755	0.58432|0.58432	D|D	0.999999|0.999999	P;D|.	0.54964|.	0.646;0.969|.	B;P|.	0.60609|.	0.385;0.877|.	T|T	0.81913|0.81913	-0.0715|-0.0715	10|5	0.59425|.	D|.	0.04|.	.|.	15.9316|15.9316	0.79663|0.79663	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1028;1060|.	Q53SM2;P56524|.	.;HDAC4_HUMAN|.	S|C	1060;948;644|150	ENSP00000264606:A1060S;ENSP00000440481:A644S|.	ENSP00000264606:A1060S|.	A|W	-|-	1|3	0|0	HDAC4|HDAC4	239640130|239640130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	6.566000|6.566000	0.73978|0.73978	2.254000|2.254000	0.74563|0.74563	0.650000|0.650000	0.86243|0.86243	GCC|TGG		0.667	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		57	17	1	0	2.12129e-23	1	2.58723e-23	57	17				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			11	174	0	0	0	1	0	11	174				
PSMD13	5719	broad.mit.edu	37	11	251889	251889	+	Nonsense_Mutation	SNP	C	C	T	rs543816265		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:251889C>T	ENST00000532097.1	+	12	1492	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PSMD13_ENST00000431206.2_Nonsense_Mutation_p.R332*|PSMD13_ENST00000352303.5_Nonsense_Mutation_p.R303*|PSMD13_ENST00000532025.1_3'UTR	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	330	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GGTGGACAAACGAGTCCACAT	0.527																																						ENST00000532097.1																			0				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10						c.(988-990)Cga>Tga		proteasome (prosome, macropain) 26S subunit, non-ATPase, 13							181.0	178.0	179.0					11																	251889		2203	4300	6503	SO:0001587	stop_gained	5719				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr11:251889C>T	AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.988C>T	11.37:g.251889C>T	ENSP00000436186:p.Arg330*					PSMD13_ENST00000532025.1_3'UTR|PSMD13_ENST00000431206.2_Nonsense_Mutation_p.R332*|PSMD13_ENST00000352303.5_Nonsense_Mutation_p.R303*	p.R330*	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)	12	1492	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	330			PCI.		B3KT15|O75831|Q53XU2|Q9UNV3	Nonsense_Mutation	SNP	ENST00000532097.1	37	c.988C>T	CCDS7692.1	.	.	.	.	.	.	.	.	.	.	C	38	6.681039	0.97759	.	.	ENSG00000185627	ENST00000532097;ENST00000538343;ENST00000431206;ENST00000352303	.	.	.	5.2	4.27	0.50696	.	0.051852	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	6.8097	0.23796	0.2582:0.6561:0.0:0.0857	.	.	.	.	X	330;265;332;303	.	ENSP00000333811:R303X	R	+	1	2	PSMD13	241889	1.000000	0.71417	0.660000	0.29694	0.245000	0.25701	6.130000	0.71663	2.712000	0.92718	0.655000	0.94253	CGA		0.527	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817		51	198	0	0	0	1	0	51	198				
LAMC2	3918	broad.mit.edu	37	1	183195922	183195922	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:183195922G>C	ENST00000264144.4	+	9	1221	c.1156G>C	c.(1156-1158)Gtt>Ctt	p.V386L	LAMC2_ENST00000493293.1_Missense_Mutation_p.V386L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	386	Laminin EGF-like 4; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TATATGTCCTGTTGGGTACAA	0.522																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1156-1158)Gtt>Ctt		laminin, gamma 2							181.0	188.0	186.0					1																	183195922		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183195922G>C	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1156G>C	1.37:g.183195922G>C	ENSP00000264144:p.Val386Leu					LAMC2_ENST00000493293.1_Missense_Mutation_p.V386L	p.V386L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			9	1221	+			386			Laminin EGF-like 4; second part.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.1156G>C	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869693	0.33069	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.62498	0.02;0.02	5.39	3.02	0.34903	EGF-like, laminin (2);Growth factor, receptor (1);	1.190190	0.05944	N	0.637616	T	0.38161	0.1030	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.20671	0.021;0.047;0.013	B;B;B	0.27500	0.032;0.08;0.014	T	0.29305	-1.0016	10	0.28530	T	0.3	.	4.7146	0.12889	0.1091:0.1393:0.6083:0.1434	.	386;386;386	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	L	386	ENSP00000432063:V386L;ENSP00000264144:V386L	ENSP00000264144:V386L	V	+	1	0	LAMC2	181462545	0.000000	0.05858	0.981000	0.43875	0.919000	0.55068	0.260000	0.18424	2.512000	0.84698	0.549000	0.68633	GTT		0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		22	245	0	0	0	1	0	22	245				
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478																																						ENST00000427229.2																			0																																																			338579							g.chr10:45652235C>G																													10.37:g.45652235C>G														0	1749	+									RNA	SNP	ENST00000427229.2	37																																																																																						0.478	RP11-445N18.7-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000470688.1			5	18	0	0	0	1	0	5	18				
LRP1B	53353	broad.mit.edu	37	2	141739846	141739846	+	Splice_Site	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:141739846C>A	ENST00000389484.3	-	18	3742		c.e18-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGTTCTGGCTATGATGATC	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e18-1		low density lipoprotein receptor-related protein 1B							87.0	79.0	82.0					2																	141739846		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141739846C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2771-1G>T	2.37:g.141739846C>A		TSP Lung(27;0.18)						NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	18	3742	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37		CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916000	0.73098	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2402	0.93879	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	141456316	1.000000	0.71417	0.995000	0.50966	0.651000	0.38670	5.336000	0.65935	2.538000	0.85594	0.655000	0.94253	.		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	22	9	1	0	2.70639e-06	1	2.89873e-06	22	9				
NLRP2	55655	broad.mit.edu	37	19	55494318	55494318	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:55494318C>A	ENST00000543010.1	+	6	1395	c.1252C>A	c.(1252-1254)Ccg>Acg	p.P418T	NLRP2_ENST00000538819.1_Missense_Mutation_p.P394T|NLRP2_ENST00000448584.2_Missense_Mutation_p.P418T|NLRP2_ENST00000427260.2_Missense_Mutation_p.P395T|NLRP2_ENST00000263437.6_Missense_Mutation_p.P415T|NLRP2_ENST00000391721.4_Missense_Mutation_p.P394T|NLRP2_ENST00000537859.1_Missense_Mutation_p.P396T|NLRP2_ENST00000339757.7_Missense_Mutation_p.P396T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	418	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGGGAGGACCCGGTCCCCAC	0.697																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1252-1254)Ccg>Acg		NLR family, pyrin domain containing 2							18.0	18.0	18.0					19																	55494318		2199	4286	6485	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494318C>A	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1252C>A	19.37:g.55494318C>A	ENSP00000445135:p.Pro418Thr					NLRP2_ENST00000427260.2_Missense_Mutation_p.P395T|NLRP2_ENST00000538819.1_Missense_Mutation_p.P394T|NLRP2_ENST00000448584.2_Missense_Mutation_p.P418T|NLRP2_ENST00000537859.1_Missense_Mutation_p.P396T|NLRP2_ENST00000339757.7_Missense_Mutation_p.P396T|NLRP2_ENST00000391721.4_Missense_Mutation_p.P394T|NLRP2_ENST00000263437.6_Missense_Mutation_p.P415T	p.P418T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1395	+			418			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1252C>A	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454165	0.26161	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75260	-0.88;-0.82;-0.82;-0.88;-0.82;-0.92;-0.82;-0.88	1.95	-1.67	0.08238	.	0.575885	0.13235	N	0.403337	T	0.79329	0.4427	M	0.84082	2.675	0.09310	N	1	D;D;D;D;D	0.60575	0.988;0.987;0.977;0.987;0.977	P;P;P;P;P	0.61397	0.821;0.888;0.776;0.888;0.776	T	0.66838	-0.5822	10	0.22706	T	0.39	.	3.9598	0.09405	0.4026:0.4626:0.0:0.1348	.	395;396;415;394;418	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	T	418;394;396;418;396;395;394;415	ENSP00000445135:P418T;ENSP00000375601:P394T;ENSP00000344074:P396T;ENSP00000409370:P418T;ENSP00000440601:P396T;ENSP00000402474:P395T;ENSP00000441133:P394T;ENSP00000263437:P415T	ENSP00000263437:P415T	P	+	1	0	NLRP2	60186130	0.007000	0.16637	0.000000	0.03702	0.041000	0.13682	0.962000	0.29280	-0.320000	0.08640	-0.233000	0.12211	CCG		0.697	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		8	22	1	0	7.48243e-07	1	8.18027e-07	8	22				
CROT	54677	broad.mit.edu	37	7	86998740	86998740	+	Missense_Mutation	SNP	G	G	A	rs201693830		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:86998740G>A	ENST00000331536.3	+	7	781	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	CROT_ENST00000419147.2_Missense_Mutation_p.R227Q|CROT_ENST00000442291.1_Missense_Mutation_p.R199Q	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	199					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGTCGAGGCCGAGCTTTTGTC	0.438																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(595-597)cGa>cAa		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						224.0	208.0	214.0					7																	86998740		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86998740G>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.596G>A	7.37:g.86998740G>A	ENSP00000331981:p.Arg199Gln					CROT_ENST00000442291.1_Missense_Mutation_p.R199Q|CROT_ENST00000419147.2_Missense_Mutation_p.R227Q	p.R199Q	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			7	781	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		199					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.596G>A	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663149	0.96745	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88124	-2.34;-2.34;-2.34	5.11	5.11	0.69529	.	0.113216	0.56097	D	0.000025	D	0.90445	0.7008	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.75020	0.968;0.985	D	0.85338	0.1094	10	0.08381	T	0.77	-14.452	19.0941	0.93242	0.0:0.0:1.0:0.0	.	227;199	E7EQF2;Q9UKG9	.;OCTC_HUMAN	Q	227;199;199	ENSP00000413575:R227Q;ENSP00000331981:R199Q;ENSP00000411983:R199Q	ENSP00000331981:R199Q	R	+	2	0	CROT	86836676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.640000	0.91028	2.807000	0.96579	0.591000	0.81541	CGA		0.438	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		72	91	0	0	0	1	0	72	91				
GOLGB1	2804	broad.mit.edu	37	3	121416012	121416012	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:121416012T>C	ENST00000340645.5	-	13	3468	c.3343A>G	c.(3343-3345)Atc>Gtc	p.I1115V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.I1120V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1115					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTCACTGATTTCTGCTTGG	0.418																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(3358-3360)Atc>Gtc		golgin B1							188.0	167.0	174.0					3																	121416012		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416012T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3343A>G	3.37:g.121416012T>C	ENSP00000341848:p.Ile1115Val					GOLGB1_ENST00000340645.5_Missense_Mutation_p.I1115V	p.I1120V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	3468	-			1115					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.3358A>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	3.317	-0.139565	0.06669	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23147	2.51;2.51;1.92	5.23	2.78	0.32641	.	0.193628	0.35970	N	0.002861	T	0.14874	0.0359	L	0.28192	0.835	0.21220	N	0.999752	B;B;B;B;B	0.12013	0.005;0.005;0.003;0.003;0.001	B;B;B;B;B	0.16722	0.016;0.004;0.004;0.004;0.002	T	0.31280	-0.9949	10	0.13470	T	0.59	.	8.325	0.32151	0.0:0.1649:0.0:0.8351	.	1040;1079;1120;1120;1115	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	V	1115;1120;1079;927	ENSP00000341848:I1115V;ENSP00000377275:I1120V;ENSP00000418231:I1079V	ENSP00000341848:I1115V	I	-	1	0	GOLGB1	122898702	0.450000	0.25697	0.949000	0.38748	0.571000	0.35966	0.211000	0.17474	0.419000	0.25927	0.533000	0.62120	ATC		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		112	118	0	0	0	1	0	112	118				
RPUSD4	84881	broad.mit.edu	37	11	126081423	126081423	+	Silent	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:126081423G>A	ENST00000298317.4	-	1	164	c.111C>T	c.(109-111)gcC>gcT	p.A37A	RPUSD4_ENST00000534393.1_5'Flank|RNU4-86P_ENST00000410135.1_RNA|FAM118B_ENST00000533050.1_5'UTR|FAM118B_ENST00000529731.1_5'Flank|RPUSD4_ENST00000533628.1_Silent_p.A37A|RP11-50B3.4_ENST00000532866.1_RNA|FAM118B_ENST00000360194.4_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	37	Poly-Ala.				pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TGGCCGTAGAGGCAGCGGCAG	0.597																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(109-111)gcC>gcT		RNA pseudouridylate synthase domain containing 4							121.0	130.0	127.0					11																	126081423		2201	4299	6500	SO:0001819	synonymous_variant	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126081423G>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.111C>T	11.37:g.126081423G>A						RPUSD4_ENST00000533628.1_Silent_p.A37A|FAM118B_ENST00000533050.1_5'UTR	p.A37A	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	1	164	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	37			Poly-Ala.		E9PML2|Q96K56	Silent	SNP	ENST00000298317.4	37	c.111C>T	CCDS8469.1																																																																																				0.597	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		136	146	0	0	0	1	0	136	146				
HERC2P2	400322	broad.mit.edu	37	15	23299924	23299924	+	RNA	SNP	C	C	T	rs201796824		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr15:23299924C>T	ENST00000560464.1	-	0	4363									hect domain and RLD 2 pseudogene 2																		CCAGGCAAGCCGGACGCATTC	0.577																																						ENST00000560464.1																			0																																																			400322							g.chr15:23299924C>T	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299924C>T														0	4363	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.577	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	29	0	0	0	1	0	3	29				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			11	177	0	0	0	1	0	11	177				
ADORA2A	135	broad.mit.edu	37	22	24837117	24837117	+	Missense_Mutation	SNP	G	G	A	rs4990		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr22:24837117G>A	ENST00000337539.7	+	3	1358	c.899G>A	c.(898-900)cGc>cAc	p.R300H	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	300			R -> H (in dbSNP:rs4990).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	CAGACCTTCCGCAAGATCATT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		22700	0.001		0.0	False		,,,				2504	0.0					ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(898-900)cGc>cAc		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						74.0	64.0	68.0					22																	24837117		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24837117G>A	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.899G>A	22.37:g.24837117G>A	ENSP00000336630:p.Arg300His					ADORA2A_ENST00000496497.1_3'UTR|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA	p.R300H	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			3	1358	+	Colorectal(2;0.196)		300		R -> H (in dbSNP:rs4990).			B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.899G>A	CCDS13826.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.26	1.883746	0.33255	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.40476	1.03;1.03	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	L	0.39147	1.195	0.58432	D	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.16424	-1.0403	10	0.11794	T	0.64	-50.0074	17.8809	0.88840	0.0:0.0:1.0:0.0	rs4990;rs52797178;rs4990	300	P29274	AA2AR_HUMAN	H	300	ENSP00000414802:R300H;ENSP00000336630:R300H	ENSP00000336630:R300H	R	+	2	0	ADORA2A	23167117	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.380000	0.73158	2.473000	0.83533	0.462000	0.41574	CGC		0.587	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		9	49	0	0	0	1	0	9	49				
NOTCH1	4851	broad.mit.edu	37	9	139405702	139405702	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:139405702A>T	ENST00000277541.6	-	16	2564	c.2489T>A	c.(2488-2490)cTg>cAg	p.L830Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	830	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACACGGGGCCAGCACCACCTC	0.657			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2488-2490)cTg>cAg		notch 1							23.0	30.0	27.0					9																	139405702		2097	4202	6299	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139405702A>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2489T>A	9.37:g.139405702A>T	ENSP00000277541:p.Leu830Gln	HNSCC(8;0.001)					p.L830Q	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	16	2564	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	830			EGF-like 22.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2489T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719133	0.68844	.	.	ENSG00000148400	ENST00000277541	D	0.85484	-1.99	4.63	3.44	0.39384	Epidermal growth factor-like, type 3 (1);	0.244841	0.34178	N	0.004192	D	0.89114	0.6623	M	0.62154	1.92	0.50313	D	0.999864	D	0.63046	0.992	D	0.65874	0.939	D	0.87568	0.2476	10	0.52906	T	0.07	.	10.3612	0.43994	0.8346:0.1654:0.0:0.0	.	830	P46531	NOTC1_HUMAN	Q	830	ENSP00000277541:L830Q	ENSP00000277541:L830Q	L	-	2	0	NOTCH1	138525523	1.000000	0.71417	0.996000	0.52242	0.859000	0.49053	5.680000	0.68168	0.589000	0.29677	0.379000	0.24179	CTG		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		21	25	0	0	0	1	0	21	25				
IGSF9B	22997	broad.mit.edu	37	11	133789962	133789962	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:133789962C>T	ENST00000321016.8	-	18	3888	c.3658G>A	c.(3658-3660)Gcc>Acc	p.A1220T	IGSF9B_ENST00000533871.2_Missense_Mutation_p.A1220T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1220	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGGGCACGGGCGGCGAGCTCA	0.672																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3658-3660)Gcc>Acc		immunoglobulin superfamily, member 9B							20.0	25.0	24.0					11																	133789962		1847	4048	5895	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133789962C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3658G>A	11.37:g.133789962C>T	ENSP00000317980:p.Ala1220Thr					IGSF9B_ENST00000533871.2_Missense_Mutation_p.A1220T	p.A1220T			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3888	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1220			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3658G>A		.	.	.	.	.	.	.	.	.	.	C	11.34	1.609394	0.28623	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66280	0.13;-0.2	5.11	4.2	0.49525	.	0.000000	0.44483	D	0.000455	T	0.42291	0.1196	N	0.08118	0	0.31622	N	0.650104	B	0.13145	0.007	B	0.04013	0.001	T	0.48758	-0.9007	10	0.54805	T	0.06	.	13.1968	0.59743	0.0:0.9217:0.0:0.0783	.	1220	Q9UPX0	TUTLB_HUMAN	T	1220;1062	ENSP00000317980:A1220T;ENSP00000436552:A1062T	ENSP00000317980:A1220T	A	-	1	0	IGSF9B	133295172	0.975000	0.34042	0.080000	0.20451	0.041000	0.13682	1.991000	0.40727	1.156000	0.42514	0.555000	0.69702	GCC		0.672	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		33	33	0	0	0	1	0	33	33				
IL17RA	23765	broad.mit.edu	37	22	17578709	17578709	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr22:17578709G>T	ENST00000319363.6	+	3	319	c.186G>T	c.(184-186)tgG>tgT	p.W62C	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	62					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ATGACAGCTGGATTCACCCTC	0.577																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(184-186)tgG>tgT		interleukin 17 receptor A							111.0	85.0	94.0					22																	17578709		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17578709G>T	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.186G>T	22.37:g.17578709G>T	ENSP00000320936:p.Trp62Cys					IL17RA_ENST00000477874.1_3'UTR	p.W62C	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	3	319	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	62					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.186G>T	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833090	0.71258	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.00529	6.78	5.07	5.07	0.68467	.	0.000000	0.53938	D	0.000046	T	0.01730	0.0055	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.63256	-0.6678	10	0.87932	D	0	-21.2025	15.5366	0.76007	0.0:0.0:1.0:0.0	.	62;62	D3YTB4;Q96F46	.;I17RA_HUMAN	C	62	ENSP00000320936:W62C	ENSP00000320936:W62C	W	+	3	0	IL17RA	15958709	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.984000	0.63838	2.535000	0.85469	0.561000	0.74099	TGG		0.577	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		12	65	1	0	0.0931896	1	0.0936333	12	65				
MUC17	140453	broad.mit.edu	37	7	100683582	100683582	+	Missense_Mutation	SNP	C	C	A	rs369403209		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:100683582C>A	ENST00000306151.4	+	3	8949	c.8885C>A	c.(8884-8886)tCt>tAt	p.S2962Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2962	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)					GTCACCACTTCTGCTGAAGCT	0.493																																						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.(8884-8886)tCt>tAt		mucin 17, cell surface associated							205.0	214.0	211.0					7																	100683582		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683582C>A	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.8885C>A	7.37:g.100683582C>A	ENSP00000302716:p.Ser2962Tyr						p.S2962Y	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8949	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2962			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8885C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	8.758	0.922877	0.18056	.	.	ENSG00000169876	ENST00000306151	T	0.02067	4.47	1.22	1.22	0.21188	.	.	.	.	.	T	0.02494	0.0076	L	0.32530	0.975	0.09310	N	1	D	0.54964	0.969	B	0.43990	0.438	T	0.51718	-0.8670	9	0.46703	T	0.11	.	8.4713	0.32986	0.0:1.0:0.0:0.0	.	2962	Q685J3	MUC17_HUMAN	Y	2962	ENSP00000302716:S2962Y	ENSP00000302716:S2962Y	S	+	2	0	MUC17	100470302	0.002000	0.14202	0.001000	0.08648	0.020000	0.10135	0.545000	0.23268	0.989000	0.38761	0.121000	0.15741	TCT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		144	268	1	0	3.69866e-55	1	4.72981e-55	144	268				
NLRP10	338322	broad.mit.edu	37	11	7981913	7981913	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:7981913G>T	ENST00000328600.2	-	2	1407	c.1246C>A	c.(1246-1248)Cta>Ata	p.L416I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	416	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAGCTGCTAGGGAGCACAGA	0.547																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1246-1248)Cta>Ata		NLR family, pyrin domain containing 10							50.0	52.0	52.0					11																	7981913		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981913G>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1246C>A	11.37:g.7981913G>T	ENSP00000327763:p.Leu416Ile						p.L416I	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1407	-			416			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1246C>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089696	0.36855	.	.	ENSG00000182261	ENST00000328600	D	0.88818	-2.43	4.93	2.55	0.30701	.	0.000000	0.31507	N	0.007521	D	0.94069	0.8099	M	0.89968	3.075	0.28297	N	0.923279	D	0.89917	1.0	D	0.91635	0.999	D	0.87970	0.2736	10	0.87932	D	0	.	7.1755	0.25742	0.8589:0.0:0.1411:0.0	.	416	Q86W26	NAL10_HUMAN	I	416	ENSP00000327763:L416I	ENSP00000327763:L416I	L	-	1	2	NLRP10	7938489	0.889000	0.30405	0.998000	0.56505	0.015000	0.08874	0.556000	0.23438	0.311000	0.23014	-0.150000	0.13652	CTA		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		13	70	1	0	0.0931896	1	0.0936333	13	70				
LRRN3	54674	broad.mit.edu	37	7	110763329	110763329	+	Silent	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:110763329T>A	ENST00000422987.3	+	2	1332	c.501T>A	c.(499-501)ctT>ctA	p.L167L	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L167L|LRRN3_ENST00000451085.1_Silent_p.L167L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	167					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATAATCTTCTTCGACTTCATC	0.363																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(499-501)ctT>ctA		leucine rich repeat neuronal 3							74.0	78.0	76.0					7																	110763329		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110763329T>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.501T>A	7.37:g.110763329T>A						IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L167L|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Silent_p.L167L|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron	p.L167L	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1547	+			167					O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.501T>A	CCDS5754.1																																																																																				0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		66	60	0	0	0	1	0	66	60				
CRB1	23418	broad.mit.edu	37	1	197316469	197316469	+	Splice_Site	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:197316469G>A	ENST00000367400.3	+	4	983		c.e4-1		CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000543483.1_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTACTTTCCAGATATAGCTGT	0.393																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.e4-1		crumbs homolog 1 (Drosophila)							170.0	160.0	163.0					1																	197316469		2203	4300	6503	SO:0001630	splice_region_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197316469G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.849-1G>A	1.37:g.197316469G>A						CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000367399.2_Intron		NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			4	983	+								A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37		CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478843	0.84747	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7682	0.91881	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195583092	1.000000	0.71417	0.917000	0.36280	0.996000	0.88848	9.180000	0.94867	2.524000	0.85096	0.585000	0.79938	.		0.393	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Intron	7	115	0	0	0	1	0	7	115				
PLK2	10769	broad.mit.edu	37	5	57752328	57752328	+	Silent	SNP	C	C	T	rs141029220	byFrequency	TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:57752328C>T	ENST00000274289.3	-	9	1545	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	415					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCTCATCTGTCCTGTGTTTGC	0.368																																						ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1243-1245)agG>agA		polo-like kinase 2		C		1,4405	2.1+/-5.4	0,1,2202	196.0	180.0	185.0		1245	1.7	1.0	5	dbSNP_134	185	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PLK2	NM_006622.2		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		415/686	57752328	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57752328C>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1245G>A	5.37:g.57752328C>T						PLK2_ENST00000502671.1_5'UTR	p.R415R	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	9	1545	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	415					O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.1245G>A	CCDS3974.1																																																																																				0.368	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		6	171	0	0	0	1	0	6	171				
DMXL1	1657	broad.mit.edu	37	5	118529659	118529659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:118529659C>A	ENST00000311085.8	+	30	7531	c.7451C>A	c.(7450-7452)tCa>tAa	p.S2484*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S2484*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2484										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATTCAAATTCATATAGGTAT	0.264																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7450-7452)tCa>tAa		Dmx-like 1							40.0	35.0	37.0					5																	118529659		2201	4298	6499	SO:0001587	stop_gained	1657							g.chr5:118529659C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7451C>A	5.37:g.118529659C>A	ENSP00000309690:p.Ser2484*					DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S2484*	p.S2484*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	30	7531	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2484						Nonsense_Mutation	SNP	ENST00000311085.8	37	c.7451C>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	48	14.860245	0.99813	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	.	.	.	5.16	5.16	0.70880	.	0.182425	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3832	18.6356	0.91378	0.0:1.0:0.0:0.0	.	.	.	.	X	2484	.	ENSP00000309690:S2484X	S	+	2	0	DMXL1	118557558	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.836000	0.75349	2.399000	0.81585	0.557000	0.71058	TCA		0.264	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		9	5	1	0	0.307466	1	0.307466	9	5				
CHERP	10523	broad.mit.edu	37	19	16638968	16638968	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:16638968G>T	ENST00000198939.6	-	9	1297	c.1261C>A	c.(1261-1263)Cca>Aca	p.P421T	CHERP_ENST00000544299.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.P410T					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TGGTCGTGTggcccggggccc	0.642																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1228-1230)Cca>Aca		calcium homeostasis endoplasmic reticulum protein							44.0	52.0	50.0					19																	16638968		1851	4084	5935	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16638968G>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1261C>A	19.37:g.16638968G>T	ENSP00000198939:p.Pro421Thr					CHERP_ENST00000198939.6_Missense_Mutation_p.P421T|CTD-3222D19.2_ENST00000409035.1_Intron	p.P410T	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			9	1379	-			410			Pro-rich.			Missense_Mutation	SNP	ENST00000198939.6	37	c.1228C>A		.	.	.	.	.	.	.	.	.	.	G	5.587	0.293099	0.10567	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.23348	1.91;1.91	4.89	4.89	0.63831	.	.	.	.	.	T	0.16342	0.0393	N	0.19112	0.55	0.39809	D	0.97267	B	0.27823	0.19	B	0.23018	0.043	T	0.07233	-1.0783	9	0.46703	T	0.11	-12.0763	10.6294	0.45527	0.0986:0.0:0.9014:0.0	.	410	Q8IWX8	CHERP_HUMAN	T	410;421	ENSP00000439856:P410T;ENSP00000198939:P421T	ENSP00000198939:P421T	P	-	1	0	CHERP	16499968	1.000000	0.71417	0.933000	0.37362	0.032000	0.12392	4.060000	0.57477	2.273000	0.75805	0.462000	0.41574	CCA		0.642	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		49	118	1	0	3.76525e-18	1	4.53981e-18	49	118				
PCDH8	5100	broad.mit.edu	37	13	53420293	53420293	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr13:53420293C>A	ENST00000377942.3	-	1	2482	c.2279G>T	c.(2278-2280)tGc>tTc	p.C760F	PCDH8_ENST00000338862.4_Missense_Mutation_p.C760F	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	760					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGCAGCGTGCAGCTCCCGGC	0.716																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2278-2280)tGc>tTc		protocadherin 8							27.0	37.0	34.0					13																	53420293		2127	4208	6335	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420293C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2279G>T	13.37:g.53420293C>A	ENSP00000367177:p.Cys760Phe					PCDH8_ENST00000338862.4_Missense_Mutation_p.C760F	p.C760F	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2482	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	760					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2279G>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896014	0.91962	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.53640	0.61;0.69	5.02	5.02	0.67125	.	0.000000	0.48286	D	0.000188	T	0.58192	0.2105	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.52525	-0.8564	10	0.22706	T	0.39	.	18.3457	0.90321	0.0:1.0:0.0:0.0	.	760;760	O95206-2;O95206	.;PCDH8_HUMAN	F	760;760;286;603	ENSP00000367177:C760F;ENSP00000341350:C760F	ENSP00000341350:C760F	C	-	2	0	PCDH8	52318294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.501000	0.81600	2.318000	0.78349	0.655000	0.94253	TGC		0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		4	74	1	0	0.014758	1	0.0151162	4	74				
TRIM42	287015	broad.mit.edu	37	3	140407285	140407285	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:140407285C>T	ENST00000286349.3	+	3	1952	c.1761C>T	c.(1759-1761)agC>agT	p.S587S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	587						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TACAGAACAGCAGCAGCTTCC	0.572																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1759-1761)agC>agT		tripartite motif containing 42							98.0	97.0	97.0					3																	140407285		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140407285C>T	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1761C>T	3.37:g.140407285C>T							p.S587S	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1952	+			587					A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.1761C>T	CCDS3113.1																																																																																				0.572	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		56	155	0	0	0	1	0	56	155				
SLC38A10	124565	broad.mit.edu	37	17	79268721	79268721	+	Start_Codon_SNP	SNP	T	T	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:79268721T>C	ENST00000374759.3	-	1	384	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SLC38A10_ENST00000288439.5_Start_Codon_SNP_p.M1V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCGCGGTCATAGTGAGAGGT	0.667																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1-3)Atg>Gtg		solute carrier family 38, member 10							40.0	40.0	40.0					17																	79268721		2203	4300	6503	SO:0001582	initiator_codon_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79268721T>C	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1A>G	17.37:g.79268721T>C	ENSP00000363891:p.Met1Val					SLC38A10_ENST00000288439.5_Start_Codon_SNP_p.M1V	p.M1V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		1	384	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1					Q6ZRC5|Q8NA99|Q96C66	Translation_Start_Site	SNP	ENST00000374759.3	37	c.1A>G	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112498	0.77210	.	.	ENSG00000157637	ENST00000374759;ENST00000288439	T;T	0.14022	2.7;2.54	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000005	T	0.35038	0.0918	.	.	.	0.80722	D	1	D;D	0.58268	0.982;0.982	D;D	0.68943	0.961;0.952	T	0.13442	-1.0509	9	0.72032	D	0.01	-36.6333	12.3219	0.54989	0.0:0.0:0.0:1.0	.	1;1	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	V	1	ENSP00000363891:M1V;ENSP00000288439:M1V	ENSP00000288439:M1V	M	-	1	0	SLC38A10	76883316	0.986000	0.35501	0.868000	0.34077	0.641000	0.38312	2.761000	0.47589	1.840000	0.53500	0.533000	0.62120	ATG		0.667	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	Missense_Mutation	54	32	0	0	0	1	0	54	32				
LRG1	116844	broad.mit.edu	37	19	4538603	4538603	+	Silent	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:4538603C>A	ENST00000306390.6	-	2	853	c.393G>T	c.(391-393)ctG>ctT	p.L131L	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	131					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGGGGGCAGCCCGGTCA	0.632																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(391-393)ctG>ctT		leucine-rich alpha-2-glycoprotein 1							23.0	29.0	27.0					19																	4538603		2195	4277	6472	SO:0001819	synonymous_variant	116844					extracellular region|membrane		g.chr19:4538603C>A		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.393G>T	19.37:g.4538603C>A						LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	p.L131L	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	853	-		Hepatocellular(1079;0.137)	131					Q8N4F5|Q96QZ4	Silent	SNP	ENST00000306390.6	37	c.393G>T	CCDS12130.1																																																																																				0.632	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		42	100	1	0	5.04308e-16	1	5.97803e-16	42	100				
ATXN1	6310	broad.mit.edu	37	6	16327921	16327921	+	Missense_Mutation	SNP	C	C	A	rs201030692		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:16327921C>A	ENST00000244769.4	-	8	1557	c.621G>T	c.(619-621)caG>caT	p.Q207H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	207	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Q207H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgctgctgctgct	0.662																																						ENST00000244769.4																			2	Substitution - Missense(2)	p.Q207H(2)	lung(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(619-621)caG>caT		ataxin 1							5.0	8.0	7.0					6																	16327921		1605	3502	5107	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327921C>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.621G>T	6.37:g.16327921C>A	ENSP00000244769:p.Gln207His					ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1557	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	207			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.621G>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	c	0.699	-0.791581	0.02884	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56275	0.47;0.47	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.38106	0.265	T	0.21042	-1.0257	8	0.35671	T	0.21	.	.	.	.	.	207	P54253	ATX1_HUMAN	H	207	ENSP00000244769:Q207H;ENSP00000416360:Q207H	ENSP00000244769:Q207H	Q	-	3	2	ATXN1	16435900	0.128000	0.22383	0.017000	0.16124	0.068000	0.16541	-0.076000	0.11412	-1.412000	0.02030	-1.404000	0.01136	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	29	1	0	0.00909568	1	0.0093619	4	29				
TUBA4B	80086	broad.mit.edu	37	2	220136572	220136572	+	RNA	SNP	A	A	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:220136572A>G	ENST00000490341.1	+	0	1042					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										TTTAAGGTTGATATCAATCAC	0.537																																						ENST00000490341.1																			0																																																			80086							g.chr2:220136572A>G	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220136572A>G								NR_003063.1						0	1042	+									RNA	SNP	ENST00000490341.1	37																																																																																						0.537	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063		32	25	0	0	0	1	0	32	25				
KRTAP10-10	353333	broad.mit.edu	37	21	46058062	46058062	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr21:46058062T>G	ENST00000380095.1	+	1	790	c.728T>G	c.(727-729)cTc>cGc	p.L243R	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	243						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCTACAGCCTCTGCTCTGGC	0.687																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(727-729)cTc>cGc		keratin associated protein 10-10							36.0	40.0	39.0					21																	46058062		2200	4296	6496	SO:0001583	missense	353333					keratin filament		g.chr21:46058062T>G	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.728T>G	21.37:g.46058062T>G	ENSP00000369438:p.Leu243Arg					TSPEAR_ENST00000323084.4_Intron	p.L243R	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	790	+			243						Missense_Mutation	SNP	ENST00000380095.1	37	c.728T>G	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	t	7.260	0.605046	0.14002	.	.	ENSG00000221859	ENST00000380095	T	0.01145	5.27	3.0	-1.28	0.09318	.	.	.	.	.	T	0.01287	0.0042	L	0.29908	0.895	0.09310	N	1	D	0.57899	0.981	P	0.47864	0.559	T	0.53078	-0.8489	9	0.25106	T	0.35	.	7.1399	0.25550	0.0:0.592:0.0:0.408	.	243	P60014	KR10A_HUMAN	R	243	ENSP00000369438:L243R	ENSP00000369438:L243R	L	+	2	0	KRTAP10-10	44882490	0.000000	0.05858	0.008000	0.14137	0.014000	0.08584	-0.094000	0.11094	-0.253000	0.09514	0.383000	0.25322	CTC		0.687	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		30	26	0	0	0	1	0	30	26				
TMPRSS6	164656	broad.mit.edu	37	22	37471214	37471214	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr22:37471214C>A	ENST00000346753.3	-	11	1446	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G435C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G435C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G435C	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	444	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCCGCACACCGGGCCCGGTG	0.657																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1303-1305)Ggt>Tgt		transmembrane protease, serine 6							65.0	70.0	69.0					22																	37471214		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37471214C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1330G>T	22.37:g.37471214C>A	ENSP00000334962:p.Gly444Cys					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G435C|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.G444C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G435C	p.G435C			Q8IU80	TMPS6_HUMAN			11	1443	-			444			CUB 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1303G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459484	0.63401	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.27	5.27	0.74061	CUB (4);	0.000000	0.85682	D	0.000000	T	0.63850	0.2546	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.68345	-0.5433	10	0.87932	D	0	.	18.8759	0.92334	0.0:1.0:0.0:0.0	.	435;444	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	C	435;444;435;435	ENSP00000371211:G435C;ENSP00000334962:G444C;ENSP00000385453:G435C;ENSP00000384964:G435C	ENSP00000334962:G444C	G	-	1	0	TMPRSS6	35801160	1.000000	0.71417	0.967000	0.41034	0.166000	0.22503	7.158000	0.77470	2.455000	0.83008	0.561000	0.74099	GGT		0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		38	91	1	0	4.16155e-14	1	4.8513e-14	38	91				
FAM120A	23196	broad.mit.edu	37	9	96289498	96289498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:96289498C>T	ENST00000277165.6	+	8	1674	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	FAM120A_ENST00000375389.3_Nonsense_Mutation_p.R494*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.R494*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.R522*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	494						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCTCAGGCACGAGGAGACCC	0.418																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1480-1482)Cga>Tga		family with sequence similarity 120A							86.0	83.0	84.0					9																	96289498		2203	4300	6503	SO:0001587	stop_gained	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96289498C>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1480C>T	9.37:g.96289498C>T	ENSP00000277165:p.Arg494*					FAM120A_ENST00000375389.3_Nonsense_Mutation_p.R494*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.R522*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.R494*	p.R494*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			8	1674	+			494					A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Nonsense_Mutation	SNP	ENST00000277165.6	37	c.1480C>T	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	37	6.207731	0.97376	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	.	.	.	5.84	5.84	0.93424	.	0.201960	0.35291	N	0.003315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-15.2443	10.0785	0.42375	0.1367:0.7934:0.0:0.07	.	.	.	.	X	494;494;522;494	.	ENSP00000277165:R494X	R	+	1	2	FAM120A	95329319	0.876000	0.30132	1.000000	0.80357	0.998000	0.95712	1.484000	0.35508	2.764000	0.94973	0.655000	0.94253	CGA		0.418	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		12	45	0	0	0	1	0	12	45				
PRF1	5551	broad.mit.edu	37	10	72358471	72358471	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:72358471G>T	ENST00000441259.1	-	3	1166	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	PRF1_ENST00000373209.2_Missense_Mutation_p.P336T	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	336	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ACCAGGCCAGGGCTGCCGGGC	0.662			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1006-1008)Cct>Act		perforin 1 (pore forming protein)							43.0	44.0	44.0					10																	72358471		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358471G>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1006C>A	10.37:g.72358471G>T	ENSP00000398568:p.Pro336Thr					PRF1_ENST00000373209.2_Missense_Mutation_p.P336T	p.P336T	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1166	-			336			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1006C>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663332	0.67700	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.90133	-2.62;-2.62	5.56	5.56	0.83823	Membrane attack complex component/perforin (MACPF) domain (3);	0.048177	0.85682	D	0.000000	D	0.96216	0.8766	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96810	0.9596	10	0.87932	D	0	-36.864	17.024	0.86440	0.0:0.0:1.0:0.0	.	336	P14222	PERF_HUMAN	T	336	ENSP00000362305:P336T;ENSP00000398568:P336T	ENSP00000316746:P336T	P	-	1	0	PRF1	72028477	1.000000	0.71417	0.638000	0.29380	0.356000	0.29392	8.540000	0.90641	2.592000	0.87571	0.655000	0.94253	CCT		0.662	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		22	31	1	0	1.55795e-14	1	1.83646e-14	22	31				
ZNF254	9534	broad.mit.edu	37	19	24288784	24288784	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:24288784G>A	ENST00000357002.4	+	2	188	c.73G>A	c.(73-75)Gag>Aag	p.E25K	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.E25K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATTCTCTCTGGAGGAGTGGCA	0.413																																						ENST00000357002.4																			0											c.(73-75)Gag>Aag		zinc finger protein 254							108.0	119.0	115.0					19																	24288784		2203	4300	6503	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24288784G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.73G>A	19.37:g.24288784G>A	ENSP00000349494:p.Glu25Lys					ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.E25K	p.E25K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			2	188	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	25			KRAB.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.73G>A	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470722	0.63625	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.03607	3.87;3.87	0.225	0.225	0.15325	Krueppel-associated box (4);	.	.	.	.	T	0.17662	0.0424	M	0.87269	2.87	0.50171	D	0.999851	D	0.89917	1.0	D	0.85130	0.997	T	0.02020	-1.1228	8	0.66056	D	0.02	.	.	.	.	.	25	O75437	ZN254_HUMAN	K	25	ENSP00000349494:E25K;ENSP00000341573:E25K	ENSP00000341573:E25K	E	+	1	0	ZNF254	24080624	0.232000	0.23762	0.788000	0.31933	0.794000	0.44872	0.652000	0.24888	0.300000	0.22699	0.305000	0.20034	GAG		0.413	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		87	164	0	0	0	1	0	87	164				
PTPRE	5791	broad.mit.edu	37	10	129874990	129874990	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:129874990C>G	ENST00000254667.3	+	18	2002	c.1723C>G	c.(1723-1725)Cag>Gag	p.Q575E	PTPRE_ENST00000306042.5_Missense_Mutation_p.Q517E|PTPRE_ENST00000419012.2_Missense_Mutation_p.Q575E	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	575	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CACTCTCAATCAGGTATTGTT	0.448																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1723-1725)Cag>Gag		protein tyrosine phosphatase, receptor type, E							178.0	180.0	179.0					10																	129874990		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129874990C>G	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1723C>G	10.37:g.129874990C>G	ENSP00000254667:p.Gln575Glu					PTPRE_ENST00000419012.2_Missense_Mutation_p.Q575E|PTPRE_ENST00000306042.5_Missense_Mutation_p.Q517E	p.Q575E	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			18	2002	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	575			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1723C>G	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	9.895	1.205352	0.22205	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.10668	2.85;2.85;2.85	4.73	4.73	0.59995	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.145914	0.47093	D	0.000242	T	0.06826	0.0174	N	0.05467	-0.045	0.80722	D	1	B;B;B;B	0.31817	0.341;0.059;0.048;0.059	B;B;B;B	0.30495	0.116;0.061;0.036;0.061	T	0.46133	-0.9213	10	0.21540	T	0.41	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	553;575;517;575	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	E	575;553;575;517	ENSP00000254667:Q575E;ENSP00000402337:Q575E;ENSP00000303350:Q517E	ENSP00000254667:Q575E	Q	+	1	0	PTPRE	129764980	0.999000	0.42202	0.945000	0.38365	0.623000	0.37688	3.921000	0.56454	2.331000	0.79229	0.655000	0.94253	CAG		0.448	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			61	131	0	0	0	1	0	61	131				
TDRD6	221400	broad.mit.edu	37	6	46657616	46657616	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:46657616G>C	ENST00000316081.6	+	1	1751	c.1751G>C	c.(1750-1752)aGg>aCg	p.R584T	TDRD6_ENST00000544460.1_Missense_Mutation_p.R584T|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	584	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TATGACGTAAGGATGCTGCTT	0.463																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1750-1752)aGg>aCg		tudor domain containing 6							142.0	136.0	138.0					6																	46657616		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657616G>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1751G>C	6.37:g.46657616G>C	ENSP00000346065:p.Arg584Thr					TDRD6_ENST00000316081.6_Missense_Mutation_p.R584T	p.R584T	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2005	+			584			Tudor 3.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1751G>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949911	0.53186	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12774	2.65;2.65	6.02	5.05	0.67936	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.188889	0.52532	D	0.000065	T	0.22205	0.0535	M	0.84948	2.725	0.26162	N	0.979989	D;D	0.71674	0.995;0.998	P;D	0.68765	0.881;0.96	T	0.32955	-0.9887	10	0.54805	T	0.06	-16.3107	4.2883	0.10865	0.2963:0.0:0.7037:0.0	.	584;584	F5H5M3;O60522	.;TDRD6_HUMAN	T	584	ENSP00000443299:R584T;ENSP00000346065:R584T	ENSP00000346065:R584T	R	+	2	0	TDRD6	46765575	0.505000	0.26131	0.914000	0.36105	0.863000	0.49368	2.885000	0.48570	2.865000	0.98341	0.655000	0.94253	AGG		0.463	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		45	110	0	0	0	1	0	45	110				
PCDHGA8	9708	broad.mit.edu	37	5	140774102	140774102	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:140774102C>T	ENST00000398604.2	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCACTGGCGTGGAGCTGG	0.662																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1720-1722)ggC>ggT									86.0	99.0	95.0					5																	140774102		2202	4300	6502	SO:0001819	synonymous_variant	9708							g.chr5:140774102C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1722C>T	5.37:g.140774102C>T						PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.G574G	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1722	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1722C>T	CCDS47291.1																																																																																				0.662	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		118	59	0	0	0	1	0	118	59				
ARHGAP33	115703	broad.mit.edu	37	19	36279294	36279294	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:36279294C>T	ENST00000007510.4	+	21	3971	c.3827C>T	c.(3826-3828)tCc>tTc	p.S1276F	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1115F|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1112F			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1276					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCAGCTGGTCCCTCCACTCT	0.647																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3826-3828)tCc>tTc		Rho GTPase activating protein 33							4.0	5.0	5.0					19																	36279294		1907	3897	5804	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36279294C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3827C>T	19.37:g.36279294C>T	ENSP00000007510:p.Ser1276Phe					ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1112F|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1115F	p.S1276F			O14559	RHG33_HUMAN			21	3971	+			1276					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.3827C>T		.	.	.	.	.	.	.	.	.	.	c	18.08	3.543486	0.65198	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.16743	2.84;2.32;2.67	4.64	4.64	0.57946	.	0.000000	0.40728	N	0.001027	T	0.24699	0.0599	N	0.19112	0.55	0.38232	D	0.941074	D;D	0.59767	0.986;0.986	P;P	0.59825	0.864;0.864	T	0.16188	-1.0411	10	0.87932	D	0	.	16.6367	0.85060	0.0:1.0:0.0:0.0	.	1112;1115	O14559-10;O14559-11	.;.	F	1276;1115;1112	ENSP00000007510:S1276F;ENSP00000320038:S1115F;ENSP00000368227:S1112F	ENSP00000007510:S1276F	S	+	2	0	ARHGAP33	40971134	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	3.418000	0.52721	2.303000	0.77524	0.457000	0.33378	TCC		0.647	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		4	3	0	0	0	1	0	4	3				
FCGBP	8857	broad.mit.edu	37	19	40434017	40434017	+	Silent	SNP	G	G	A	rs368985940		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:40434017G>A	ENST00000221347.6	-	2	259	c.252C>T	c.(250-252)ccC>ccT	p.P84P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	84	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGACTCCCCGGGCCTCACTG	0.562																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(250-252)ccC>ccT		Fc fragment of IgG binding protein		G		1,4405	2.1+/-5.4	0,1,2202	123.0	105.0	111.0		252	-8.1	0.0	19		111	0,8600		0,0,4300	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		84/5406	40434017	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40434017G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.252C>T	19.37:g.40434017G>A							p.P84P	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	259	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		84			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.252C>T	CCDS12546.1																																																																																				0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		79	94	0	0	0	1	0	79	94				
PPM1D	8493	broad.mit.edu	37	17	58740623	58740623	+	Nonsense_Mutation	SNP	C	C	T	rs372024236		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:58740623C>T	ENST00000305921.3	+	6	1760	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	510					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGTCATGGACCAAAAAAATTT	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1528-1530)Caa>Taa		protein phosphatase, Mg2+/Mn2+ dependent, 1D		C	stop/GLN	0,4406		0,0,2203	72.0	74.0	73.0		1528	5.9	1.0	17		73	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PPM1D	NM_003620.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		510/606	58740623	1,13005	2203	4300	6503	SO:0001587	stop_gained	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740623C>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1528C>T	17.37:g.58740623C>T	ENSP00000306682:p.Gln510*		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.Q510*	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1760	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		510					Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	ENST00000305921.3	37	c.1528C>T	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	C	38	7.065171	0.98040	0.0	1.16E-4	ENSG00000170836	ENST00000305921	.	.	.	5.93	5.93	0.95920	.	0.421962	0.26546	N	0.023779	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3172	15.7748	0.78204	0.0:0.8645:0.1355:0.0	.	.	.	.	X	510	.	ENSP00000306682:Q510X	Q	+	1	0	PPM1D	56095405	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.696000	0.54757	2.818000	0.97014	0.591000	0.81541	CAA		0.378	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		42	116	0	0	0	1	0	42	116				
PSMA4	5685	broad.mit.edu	37	15	78838080	78838080	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr15:78838080G>T	ENST00000044462.7	+	7	631	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	PSMA4_ENST00000558094.1_Missense_Mutation_p.A73S|PSMA4_ENST00000413382.2_Missense_Mutation_p.A90S|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_Missense_Mutation_p.A161S|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Missense_Mutation_p.A161S|PSMA4_ENST00000560217.1_Missense_Mutation_p.A130S	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	161					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGATGGAAGGCCACATGCAT	0.418																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(481-483)Gcc>Tcc		proteasome (prosome, macropain) subunit, alpha type, 4							150.0	154.0	153.0					15																	78838080		2196	4293	6489	SO:0001583	missense	5685				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78838080G>T	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.481G>T	15.37:g.78838080G>T	ENSP00000044462:p.Ala161Ser					PSMA4_ENST00000413382.2_Missense_Mutation_p.A90S|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000560217.1_Missense_Mutation_p.A130S|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000559082.1_Missense_Mutation_p.A161S|PSMA4_ENST00000558281.1_Missense_Mutation_p.A161S|PSMA4_ENST00000558094.1_Missense_Mutation_p.A73S	p.A161S	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN			7	631	+			161					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	c.481G>T	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232114	0.95207	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.27557	1.66;1.66	5.87	4.96	0.65561	.	0.096213	0.64402	D	0.000001	T	0.68081	0.2962	H	0.96208	3.785	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.79964	-0.1581	10	0.87932	D	0	-16.1375	14.9913	0.71390	0.0681:0.0:0.9319:0.0	.	161	P25789	PSA4_HUMAN	S	90;161	ENSP00000402118:A90S;ENSP00000044462:A161S	ENSP00000044462:A161S	A	+	1	0	PSMA4	76625135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.586000	0.98226	1.499000	0.48617	0.591000	0.81541	GCC		0.418	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		5	222	1	0	0.000602214	1	0.000629046	5	222				
POLR2A	5430	broad.mit.edu	37	17	7416817	7416817	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:7416817G>A	ENST00000322644.6	+	29	5633	c.5234G>A	c.(5233-5235)aGc>aAc	p.S1745N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1745	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				tcacccaccagcccGAACTAT	0.537																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5233-5235)aGc>aAc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							410.0	405.0	407.0					17																	7416817		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7416817G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5234G>A	17.37:g.7416817G>A	ENSP00000314949:p.Ser1745Asn						p.S1745N	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5633	+		Prostate(122;0.173)	1745			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5234G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	N	13.95	2.391287	0.42410	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.72725	-0.68	4.03	2.96	0.34315	.	0.801566	0.10316	U	0.689376	D	0.84750	0.5541	H	0.95294	3.65	0.80722	D	1	B	0.34313	0.448	P	0.46452	0.517	D	0.86471	0.1785	10	0.72032	D	0.01	-12.8924	12.0333	0.53410	0.0:0.2809:0.7191:0.0	.	1745	P24928	RPB1_HUMAN	N	1701;644;1745	ENSP00000314949:S1745N	ENSP00000314949:S1745N	S	+	2	0	SLC35G6	7357541	0.982000	0.34865	1.000000	0.80357	0.930000	0.56654	1.477000	0.35431	2.248000	0.74166	0.444000	0.29173	AGC		0.537	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		152	63	0	0	0	1	0	152	63				
PDE3A	5139	broad.mit.edu	37	12	20803514	20803514	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr12:20803514G>T	ENST00000359062.3	+	14	2945	c.2905G>T	c.(2905-2907)Gtc>Ttc	p.V969F	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	969	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGATGGTATTGTCAATGAATT	0.363																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2905-2907)Gtc>Ttc		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						120.0	113.0	115.0					12																	20803514		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20803514G>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2905G>T	12.37:g.20803514G>T	ENSP00000351957:p.Val969Phe					PDE3A_ENST00000544307.1_3'UTR	p.V969F	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			14	2945	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	969			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2905G>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854618	0.91355	.	.	ENSG00000172572	ENST00000359062	D	0.81659	-1.52	5.73	5.73	0.89815	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.059781	0.64402	D	0.000002	D	0.85881	0.5800	L	0.35644	1.08	0.58432	D	0.999998	D	0.64830	0.994	D	0.67382	0.951	D	0.86740	0.1954	10	0.87932	D	0	.	19.9017	0.96988	0.0:0.0:1.0:0.0	.	969	Q14432	PDE3A_HUMAN	F	969	ENSP00000351957:V969F	ENSP00000351957:V969F	V	+	1	0	PDE3A	20694781	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.414000	0.97362	2.707000	0.92482	0.561000	0.74099	GTC		0.363	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			4	65	1	0	0.00024832	1	0.000260674	4	65				
GDF10	2662	broad.mit.edu	37	10	48429054	48429054	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:48429054C>T	ENST00000224605.2	-	2	1097	c.832G>A	c.(832-834)Gca>Aca	p.A278T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	278					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTGGGGGCTGCGCGGGGCTCG	0.701																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(832-834)Gca>Aca		growth differentiation factor 10							7.0	10.0	9.0					10																	48429054		2133	4239	6372	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429054C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.832G>A	10.37:g.48429054C>T	ENSP00000224605:p.Ala278Thr						p.A278T	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1097	-			278					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.832G>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	7.944	0.743321	0.15642	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.74947	-0.89	5.43	1.26	0.21427	.	0.817607	0.11523	N	0.555471	T	0.58452	0.2123	L	0.51422	1.61	0.09310	N	1	B;P	0.36412	0.342;0.552	B;B	0.21546	0.028;0.035	T	0.37291	-0.9712	10	0.15952	T	0.53	.	7.5764	0.27939	0.0:0.3442:0.4753:0.1805	.	88;278	Q8N6T2;P55107	.;BMP3B_HUMAN	T	88;278	ENSP00000224605:A278T	ENSP00000224605:A278T	A	-	1	0	GDF10	48049060	0.000000	0.05858	0.003000	0.11579	0.088000	0.18126	0.401000	0.20948	0.266000	0.21894	0.561000	0.74099	GCA		0.701	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		6	10	0	0	0	1	0	6	10				
PUM1	9698	broad.mit.edu	37	1	31418318	31418318	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:31418318G>C	ENST00000257075.5	-	18	2956	c.2863C>G	c.(2863-2865)Cgg>Ggg	p.R955G	PUM1_ENST00000440538.2_Missense_Mutation_p.R931G|PUM1_ENST00000424085.2_Missense_Mutation_p.R713G|PUM1_ENST00000373741.4_Missense_Mutation_p.R993G|PUM1_ENST00000373742.2_Missense_Mutation_p.R896G|PUM1_ENST00000426105.2_Missense_Mutation_p.R957G|PUM1_ENST00000373747.3_Missense_Mutation_p.R958G|PUM1_ENST00000423018.2_Missense_Mutation_p.R813G	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	955	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCTAGTTCCCGAACCATCTCA	0.408																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2872-2874)Cgg>Ggg		pumilio RNA-binding family member 1							87.0	79.0	81.0					1																	31418318		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31418318G>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2863C>G	1.37:g.31418318G>C	ENSP00000257075:p.Arg955Gly					PUM1_ENST00000423018.2_Missense_Mutation_p.R813G|PUM1_ENST00000373742.2_Missense_Mutation_p.R896G|PUM1_ENST00000257075.5_Missense_Mutation_p.R955G|PUM1_ENST00000373741.4_Missense_Mutation_p.R993G|PUM1_ENST00000424085.2_Missense_Mutation_p.R713G|PUM1_ENST00000426105.2_Missense_Mutation_p.R957G|PUM1_ENST00000440538.2_Missense_Mutation_p.R931G	p.R958G	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	18	2971	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	955			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.2872C>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554889|2.554889	0.45487|0.45487	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|.	0.14391|.	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.107857|.	0.64402|.	D|.	0.000007|.	T|T	0.52533|0.52533	0.1740|0.1740	L|L	0.28115|0.28115	0.83|0.83	0.54753|0.54753	D|D	0.999986|0.999986	B;B;B;B;B;B;B;B|.	0.33583|.	0.022;0.312;0.095;0.418;0.005;0.035;0.005;0.005|.	B;B;B;B;B;B;B;B|.	0.35859|.	0.008;0.03;0.027;0.212;0.005;0.016;0.005;0.005|.	T|T	0.46442|0.46442	-0.9191|-0.9191	10|5	0.52906|.	T|.	0.07|.	-10.6795|-10.6795	13.5547|13.5547	0.61754|0.61754	0.0:0.0:0.8445:0.1555|0.0:0.0:0.8445:0.1555	.|.	896;813;993;931;955;957;958;957|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	G|W	713;955;958;695;957;931;993;813;896;108|893;668	ENSP00000400141:R713G;ENSP00000257075:R955G;ENSP00000362852:R958G;ENSP00000391723:R957G;ENSP00000401777:R931G;ENSP00000362846:R993G;ENSP00000399440:R813G;ENSP00000362847:R896G;ENSP00000431213:R108G|.	ENSP00000257075:R955G|.	R|S	-|-	1|2	2|0	PUM1|PUM1	31190905|31190905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	3.806000|3.806000	0.55583|0.55583	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	CGG|TCG		0.408	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			35	15	0	0	0	1	0	35	15				
CCDC40	55036	broad.mit.edu	37	17	78023975	78023975	+	Missense_Mutation	SNP	G	G	A	rs61736668		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:78023975G>A	ENST00000397545.4	+	7	1079	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CCDC40_ENST00000374877.3_Missense_Mutation_p.R351H|CCDC40_ENST00000269318.5_Missense_Mutation_p.R351H|CCDC40_ENST00000374876.4_Missense_Mutation_p.R351H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	351					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTCACGACCGCCACGCAATG	0.657																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1051-1053)cGc>cAc		coiled-coil domain containing 40							15.0	20.0	18.0					17																	78023975		2146	4259	6405	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78023975G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1052G>A	17.37:g.78023975G>A	ENSP00000380679:p.Arg351His					CCDC40_ENST00000374877.3_Missense_Mutation_p.R351H|CCDC40_ENST00000269318.5_Missense_Mutation_p.R351H|CCDC40_ENST00000374876.4_Missense_Mutation_p.R351H	p.R351H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		7	1079	+	all_neural(118;0.167)		351					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1052G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845099	0.51164	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.50548	0.78;1.68;0.74;0.79	4.85	0.497	0.16902	.	.	.	.	.	T	0.50411	0.1614	M	0.65498	2.005	0.22521	N	0.999024	B;D;D	0.59767	0.105;0.977;0.986	B;P;P	0.51657	0.027;0.477;0.676	T	0.38607	-0.9653	9	0.48119	T	0.1	-11.6736	5.4445	0.16527	0.289:0.0:0.5803:0.1308	rs61736668	351;351;134	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	H	351	ENSP00000364011:R351H;ENSP00000269318:R351H;ENSP00000364010:R351H;ENSP00000380679:R351H	ENSP00000269318:R351H	R	+	2	0	CCDC40	75638570	0.089000	0.21612	0.967000	0.41034	0.453000	0.32348	0.524000	0.22940	0.189000	0.20188	-0.137000	0.14449	CGC		0.657	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		17	44	0	0	0	1	0	17	44				
ASXL3	80816	broad.mit.edu	37	18	31318530	31318530	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr18:31318530G>T	ENST00000269197.5	+	11	1162	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCTTCATGTGGGACTTCTGG	0.478																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(1162-1164)Ggg>Tgg		additional sex combs like 3 (Drosophila)							62.0	64.0	63.0					18																	31318530		1932	4144	6076	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31318530G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1162G>T	18.37:g.31318530G>T	ENSP00000269197:p.Gly388Trp						p.G388W	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			11	1162	+			388					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1162G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053062	0.36181	.	.	ENSG00000141431	ENST00000269197	T	0.15834	2.39	5.01	5.01	0.66863	.	0.660669	0.14359	N	0.324581	T	0.40272	0.1110	L	0.59436	1.845	0.33845	D	0.631951	D	0.71674	0.998	D	0.65573	0.936	T	0.50224	-0.8853	10	0.72032	D	0.01	.	18.6879	0.91571	0.0:0.0:1.0:0.0	.	388	Q9C0F0	ASXL3_HUMAN	W	388	ENSP00000269197:G388W	ENSP00000269197:G388W	G	+	1	0	ASXL3	29572528	1.000000	0.71417	0.841000	0.33234	0.312000	0.27988	3.697000	0.54764	2.490000	0.84030	0.591000	0.81541	GGG		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			15	33	1	0	2.31682e-05	1	2.46894e-05	15	33				
PRLR	5618	broad.mit.edu	37	5	35072844	35072844	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:35072844G>C	ENST00000382002.5	-	6	802	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	PRLR_ENST00000542609.1_Missense_Mutation_p.Q126E|PRLR_ENST00000397391.3_Missense_Mutation_p.Q55E|PRLR_ENST00000310101.5_Missense_Mutation_p.Q126E|PRLR_ENST00000511486.1_Missense_Mutation_p.Q25E|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.Q126E|PRLR_ENST00000231423.3_Missense_Mutation_p.Q126E|PRLR_ENST00000348262.3_Missense_Mutation_p.Q126E|PRLR_ENST00000342362.5_Missense_Mutation_p.Q25E	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	126	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GGGTCTGGCTGAACTGCAGAA	0.428																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(376-378)Cag>Gag		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						91.0	87.0	88.0					5																	35072844		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35072844G>C		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.376C>G	5.37:g.35072844G>C	ENSP00000371432:p.Gln126Glu					PRLR_ENST00000397391.3_Missense_Mutation_p.Q55E|PRLR_ENST00000348262.3_Missense_Mutation_p.Q126E|PRLR_ENST00000342362.5_Missense_Mutation_p.Q25E|PRLR_ENST00000310101.5_Missense_Mutation_p.Q126E|PRLR_ENST00000231423.3_Missense_Mutation_p.Q126E|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.Q126E|PRLR_ENST00000542609.1_Missense_Mutation_p.Q126E|PRLR_ENST00000511486.1_Missense_Mutation_p.Q25E	p.Q126E	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		6	802	-	all_lung(31;3.83e-05)		126					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.376C>G	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351439	0.01256	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.68	3.89	0.44902	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.360251	0.35151	N	0.003405	T	0.34571	0.0902	N	0.11756	0.17	0.28044	N	0.933647	B;B;B;B;B;B;B	0.15141	0.001;0.0;0.0;0.012;0.002;0.002;0.003	B;B;B;B;B;B;B	0.13407	0.001;0.0;0.0;0.009;0.004;0.002;0.002	T	0.16129	-1.0413	10	0.16420	T	0.52	-8.6315	9.6828	0.40080	0.0:0.463:0.4569:0.0802	.	126;126;25;55;126;126;126	P16471-3;P16471;P16471-2;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.;.	E	126;126;126;55;126;25;126;25;126	ENSP00000231423:Q126E;ENSP00000424841:Q126E;ENSP00000311613:Q126E;ENSP00000380546:Q55E;ENSP00000441813:Q126E;ENSP00000339213:Q25E;ENSP00000371432:Q126E;ENSP00000422556:Q25E;ENSP00000309008:Q126E	ENSP00000231423:Q126E	Q	-	1	0	PRLR	35108601	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	1.287000	0.33284	1.414000	0.47017	-0.153000	0.13522	CAG		0.428	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			23	49	0	0	0	1	0	23	49				
MYRF	745	broad.mit.edu	37	11	61539354	61539354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:61539354C>T	ENST00000278836.5	+	7	1141	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	MYRF_ENST00000265460.5_Nonsense_Mutation_p.Q340*|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_5'Flank	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	349					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCCCAACTACCAGTCCATCAA	0.602																																						ENST00000278836.5																			0											c.(1045-1047)Cag>Tag		myelin regulatory factor							139.0	136.0	137.0					11																	61539354		2202	4299	6501	SO:0001587	stop_gained	745							g.chr11:61539354C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1045C>T	11.37:g.61539354C>T	ENSP00000278836:p.Gln349*					MYRF_ENST00000265460.5_Nonsense_Mutation_p.Q340*|TMEM258_ENST00000535042.1_Intron	p.Q349*	NM_001127392.1	NP_001120864.1					7	1141	+								O43582|Q9P1Q6	Nonsense_Mutation	SNP	ENST00000278836.5	37	c.1045C>T	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	C	38	6.705653	0.97776	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	.	.	.	4.31	4.31	0.51392	.	0.118049	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-22.84	17.3548	0.87333	0.0:1.0:0.0:0.0	.	.	.	.	X	349;340	.	ENSP00000265460:Q340X	Q	+	1	0	C11orf9	61295930	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.267000	0.78462	2.406000	0.81754	0.455000	0.32223	CAG		0.602	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		39	96	0	0	0	1	0	39	96				
HERC2P2	400322	broad.mit.edu	37	15	23299928	23299928	+	RNA	SNP	C	C	T	rs200546965		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr15:23299928C>T	ENST00000560464.1	-	0	4359									hect domain and RLD 2 pseudogene 2																		GCAAGCCGGACGCATTCCCGG	0.572																																						ENST00000560464.1																			0																																																			400322							g.chr15:23299928C>T	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299928C>T														0	4359	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.572	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	30	0	0	0	1	0	3	30				
PRUNE2	158471	broad.mit.edu	37	9	79322473	79322473	+	Nonsense_Mutation	SNP	G	G	A	rs370042861		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:79322473G>A	ENST00000376718.3	-	8	4840	c.4717C>T	c.(4717-4719)Caa>Taa	p.Q1573*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.Q1214*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1573					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGTTGCCTTGGTTTTCTTCT	0.423																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3640-3642)Caa>Taa		prune homolog 2 (Drosophila)							90.0	77.0	81.0					9																	79322473		1568	3582	5150	SO:0001587	stop_gained	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322473G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4717C>T	9.37:g.79322473G>A	ENSP00000365908:p.Gln1573*					PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.Q1573*	p.Q1214*			Q8WUY3	PRUN2_HUMAN			8	4840	-			1573					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	ENST00000376718.3	37	c.3640C>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.877160|4.877160	0.91664|0.91664	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|.	.|.	.|.	5.91|5.91	5.01|5.01	0.66863|0.66863	.|.	.|1.779360	.|0.02813	.|N	.|0.124584	T|.	0.43033|.	0.1229|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39663|.	-0.9603|.	4|.	.|0.36615	.|T	.|0.2	1.8312|1.8312	10.7565|10.7565	0.46241|0.46241	0.0:0.344:0.5259:0.1301|0.0:0.344:0.5259:0.1301	.|.	.|.	.|.	.|.	L|X	894|1573;1214;1572	.|.	.|ENSP00000365908:Q1573X	P|Q	-|-	2|1	0|0	PRUNE2|PRUNE2	78512293|78512293	0.000000|0.000000	0.05858|0.05858	0.146000|0.146000	0.22360|0.22360	0.004000|0.004000	0.04260|0.04260	0.497000|0.497000	0.22514|0.22514	1.488000|1.488000	0.48433|0.48433	-0.176000|-0.176000	0.13171|0.13171	CCA|CAA		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		11	74	0	0	0	1	0	11	74				
FIGN	55137	broad.mit.edu	37	2	164468152	164468152	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:164468152C>T	ENST00000333129.3	-	3	504	c.190G>A	c.(190-192)Gca>Aca	p.A64T	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	64					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGGTTGGATGCAGTCAGAGCA	0.502																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(190-192)Gca>Aca		fidgetin							142.0	137.0	139.0					2																	164468152		1957	4165	6122	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468152C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.190G>A	2.37:g.164468152C>T	ENSP00000333836:p.Ala64Thr					FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	p.A64T	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	504	-			64					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.190G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680754	0.88542	.	.	ENSG00000182263	ENST00000333129	T	0.36878	1.23	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	T	0.64994	0.2649	M	0.78049	2.395	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.64846	-0.6311	10	0.87932	D	0	-26.5124	20.8794	0.99867	0.0:1.0:0.0:0.0	.	64	Q5HY92	FIGN_HUMAN	T	64	ENSP00000333836:A64T	ENSP00000333836:A64T	A	-	1	0	FIGN	164176398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCA		0.502	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		6	150	0	0	0	1	0	6	150				
MYO9B	4650	broad.mit.edu	37	19	17306179	17306179	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:17306179G>A	ENST00000594824.1	+	22	4090	c.3943G>A	c.(3943-3945)Ggc>Agc	p.G1315S	MYO9B_ENST00000397274.2_Missense_Mutation_p.G1315S|MYO9B_ENST00000595618.1_Missense_Mutation_p.G1315S			Q13459	MYO9B_HUMAN	myosin IXB	1315	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACTGTGGCGGGGCAAGAAGCT	0.706																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(3943-3945)Ggc>Agc		myosin IXB							10.0	14.0	13.0					19																	17306179		1773	3871	5644	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17306179G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3943G>A	19.37:g.17306179G>A	ENSP00000471367:p.Gly1315Ser					MYO9B_ENST00000397274.2_Missense_Mutation_p.G1315S|MYO9B_ENST00000594824.1_Missense_Mutation_p.G1315S	p.G1315S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			22	4095	+			1315			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.3943G>A		.	.	.	.	.	.	.	.	.	.	G	19.89	3.911485	0.72983	.	.	ENSG00000099331	ENST00000397274	D	0.85013	-1.93	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000038	D	0.90463	0.7013	M	0.63843	1.955	0.44201	D	0.997029	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87665	0.2537	10	0.21014	T	0.42	.	16.6419	0.85128	0.0:0.0:1.0:0.0	.	1315;1315;1321	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	S	1315	ENSP00000380444:G1315S	ENSP00000380444:G1315S	G	+	1	0	MYO9B	17167179	0.998000	0.40836	0.998000	0.56505	0.073000	0.16967	5.052000	0.64263	2.525000	0.85131	0.462000	0.41574	GGC		0.706	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			14	71	0	0	0	1	0	14	71				
NEK5	341676	broad.mit.edu	37	13	52661591	52661591	+	Splice_Site	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr13:52661591C>T	ENST00000355568.4	-	15	1415		c.e15-1			NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5						positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GACGAAGACCCTATTTATTGA	0.343																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.e15-1		NIMA-related kinase 5							96.0	91.0	93.0					13																	52661591		2203	4300	6503	SO:0001630	splice_region_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52661591C>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1276-1G>A	13.37:g.52661591C>T								NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	15	1415	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)						Q5TAP5	Splice_Site	SNP	ENST00000355568.4	37		CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089716	0.55968	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.45	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4159	0.49951	0.1806:0.8194:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEK5	51559592	1.000000	0.71417	0.959000	0.39883	0.777000	0.43975	2.501000	0.45389	1.245000	0.43885	0.655000	0.94253	.		0.343	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	Intron	57	50	0	0	0	1	0	57	50				
ANO3	63982	broad.mit.edu	37	11	26619920	26619920	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:26619920T>A	ENST00000256737.3	+	15	2308	c.1456T>A	c.(1456-1458)Ttc>Atc	p.F486I	ANO3_ENST00000531568.1_Missense_Mutation_p.F340I|ANO3_ENST00000525139.1_Missense_Mutation_p.F470I|ANO3_ENST00000537978.1_Missense_Mutation_p.F470I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	486					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGCCACAGTCTTCCTGGAGTT	0.318																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1456-1458)Ttc>Atc		anoctamin 3							85.0	86.0	86.0					11																	26619920		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26619920T>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1456T>A	11.37:g.26619920T>A	ENSP00000256737:p.Phe486Ile					ANO3_ENST00000531568.1_Missense_Mutation_p.F340I|ANO3_ENST00000525139.1_Missense_Mutation_p.F470I|ANO3_ENST00000537978.1_Missense_Mutation_p.F470I	p.F486I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			15	2308	+			486					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1456T>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780820	0.90195	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	M	0.75150	2.29	0.80722	D	1	P;D	0.56287	0.913;0.975	P;P	0.56823	0.692;0.807	D	0.83898	0.0288	10	0.87932	D	0	.	15.8566	0.78983	0.0:0.0:0.0:1.0	.	388;486	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	470;470;486;388;340	ENSP00000440737:F470I;ENSP00000432576:F470I;ENSP00000256737:F486I;ENSP00000432394:F340I	ENSP00000256737:F486I	F	+	1	0	ANO3	26576496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.347000	0.79356	2.149000	0.67028	0.533000	0.62120	TTC		0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		10	52	0	0	0	1	0	10	52				
EHMT1	79813	broad.mit.edu	37	9	140707501	140707501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:140707501G>T	ENST00000460843.1	+	20	2938	c.2911G>T	c.(2911-2913)Gaa>Taa	p.E971*		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	971					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAAGAACAAGGAAGGAGAGAC	0.512																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2911-2913)Gaa>Taa		euchromatic histone-lysine N-methyltransferase 1							76.0	88.0	84.0					9																	140707501		2203	4300	6503	SO:0001587	stop_gained	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140707501G>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2911G>T	9.37:g.140707501G>T	ENSP00000417980:p.Glu971*						p.E971*	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	20	2938	+	all_cancers(76;0.164)		971					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Nonsense_Mutation	SNP	ENST00000460843.1	37	c.2911G>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	38	7.097011	0.98063	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	.	.	.	4.99	4.99	0.66335	.	0.047030	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.2827	0.90103	0.0:0.0:1.0:0.0	.	.	.	.	X	940;971	.	ENSP00000360453:E940X	E	+	1	0	EHMT1	139827322	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.720000	0.98763	2.292000	0.77174	0.655000	0.94253	GAA		0.512	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		48	123	1	0	1.81118e-26	1	2.23485e-26	48	123				
KLC3	147700	broad.mit.edu	37	19	45851307	45851307	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:45851307A>G	ENST00000391946.2	+	5	770	c.668A>G	c.(667-669)tAt>tGt	p.Y223C	KLC3_ENST00000470402.1_Missense_Mutation_p.Y237C|KLC3_ENST00000585434.1_Missense_Mutation_p.Y222C	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	223					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CAGGGCCGCTATGAGGTGGCG	0.677																																						ENST00000470402.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(709-711)tAt>tGt		kinesin light chain 3							17.0	20.0	19.0					19																	45851307		2196	4299	6495	SO:0001583	missense	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45851307A>G	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.668A>G	19.37:g.45851307A>G	ENSP00000375810:p.Tyr223Cys					KLC3_ENST00000585434.1_Missense_Mutation_p.Y222C|KLC3_ENST00000391946.2_Missense_Mutation_p.Y223C	p.Y237C			Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	4	810	+		Ovarian(192;0.0728)|all_neural(266;0.112)	223					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	c.710A>G	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521509	0.64747	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.80393	-1.37;-1.37	3.24	3.24	0.37175	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000004	D	0.87857	0.6283	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.88557	0.3120	10	0.87932	D	0	-2.0711	10.1698	0.42902	1.0:0.0:0.0:0.0	.	222;237;223	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	C	223;237	ENSP00000375810:Y223C;ENSP00000436019:Y237C	ENSP00000375810:Y223C	Y	+	2	0	KLC3	50543147	1.000000	0.71417	0.983000	0.44433	0.737000	0.42083	8.876000	0.92379	1.731000	0.51592	0.334000	0.21626	TAT		0.677	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		7	10	0	0	0	1	0	7	10				
MOCOS	55034	broad.mit.edu	37	18	33795625	33795625	+	Silent	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr18:33795625G>A	ENST00000261326.5	+	8	1503	c.1482G>A	c.(1480-1482)ggG>ggA	p.G494G		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACTCATCAGGGGACTGGCCTG	0.552																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1480-1482)ggG>ggA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						60.0	53.0	56.0					18																	33795625		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33795625G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1482G>A	18.37:g.33795625G>A							p.G494G	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			8	1503	+			494						Silent	SNP	ENST00000261326.5	37	c.1482G>A	CCDS11919.1																																																																																				0.552	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			4	56	0	0	0	1	0	4	56				
JUP	3728	broad.mit.edu	37	17	39920973	39920973	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:39920973T>C	ENST00000393931.3	-	7	1268	c.1150A>G	c.(1150-1152)Acc>Gcc	p.T384A	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.T384A|JUP_ENST00000310706.5_Missense_Mutation_p.T384A	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	384					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACCTGCTTGGTGGCCACATCT	0.642																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1150-1152)Acc>Gcc		junction plakoglobin							65.0	58.0	61.0					17																	39920973		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39920973T>C	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1150A>G	17.37:g.39920973T>C	ENSP00000377508:p.Thr384Ala					JUP_ENST00000393930.1_Missense_Mutation_p.T384A|JUP_ENST00000310706.5_Missense_Mutation_p.T384A|JUP_ENST00000540235.1_Intron	p.T384A	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	7	1268	-		Breast(137;0.000162)	384					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1150A>G	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382254	0.82792	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.64618	-0.11;-0.11;-0.11	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.78285	2.405	0.80722	D	1	P	0.50617	0.937	P	0.51895	0.683	T	0.77765	-0.2465	10	0.87932	D	0	-54.2747	14.8732	0.70474	0.0:0.0:0.0:1.0	.	384	P14923	PLAK_HUMAN	A	384	ENSP00000377507:T384A;ENSP00000311113:T384A;ENSP00000377508:T384A	ENSP00000311113:T384A	T	-	1	0	JUP	37174499	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.058000	0.64300	2.194000	0.70268	0.533000	0.62120	ACC		0.642	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			35	53	0	0	0	1	0	35	53				
SVEP1	79987	broad.mit.edu	37	9	113220821	113220821	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:113220821G>A	ENST00000401783.2	-	20	3842	c.3506C>T	c.(3505-3507)gCg>gTg	p.A1169V	SVEP1_ENST00000302728.8_Missense_Mutation_p.A1169V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A1146V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1169					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.A1169V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCCTCTGCCGCTGAGAAAGT	0.393																																						ENST00000401783.2																			1	Substitution - Missense(1)	p.A1169V(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(3505-3507)gCg>gTg		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							41.0	41.0	41.0					9																	113220821		1847	4099	5946	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113220821G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3506C>T	9.37:g.113220821G>A	ENSP00000384917:p.Ala1169Val					SVEP1_ENST00000374469.1_Missense_Mutation_p.A1146V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.A1169V	p.A1169V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			20	3842	-			1169					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3506C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982119	0.93044	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.78595	-1.04;-1.03;-1.19	5.6	5.6	0.85130	.	0.052396	0.85682	D	0.000000	D	0.87509	0.6195	M	0.67953	2.075	0.40375	D	0.979389	D;D	0.89917	1.0;0.999	D;P	0.75484	0.986;0.825	D	0.87404	0.2371	10	0.51188	T	0.08	.	19.6126	0.95616	0.0:0.0:1.0:0.0	.	1169;1169	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	1169;1146;1169	ENSP00000384917:A1169V;ENSP00000363593:A1146V;ENSP00000304118:A1169V	ENSP00000304118:A1169V	A	-	2	0	SVEP1	112260642	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.569000	0.82380	2.630000	0.89119	0.591000	0.81541	GCG		0.393	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	13	0	0	0	1	0	7	13				
NPFF	8620	broad.mit.edu	37	12	53901159	53901159	+	Missense_Mutation	SNP	C	C	T	rs549104190		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr12:53901159C>T	ENST00000267017.3	-	1	263	c.100G>A	c.(100-102)Gcg>Acg	p.A34T	RP11-793H13.10_ENST00000591834.1_Intron|NPFF_ENST00000609999.1_5'UTR	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	34					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						ACACTCACCGCGGAGAGCTGG	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20046	0.0		0.0	False		,,,				2504	0.0					ENST00000267017.3																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(100-102)Gcg>Acg		neuropeptide FF-amide peptide precursor							129.0	121.0	124.0					12																	53901159		2203	4300	6503	SO:0001583	missense	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53901159C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.100G>A	12.37:g.53901159C>T	ENSP00000267017:p.Ala34Thr					RP11-793H13.10_ENST00000591834.1_Intron	p.A34T	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN			1	263	-			34					Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.100G>A	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	4.527	0.097810	0.08681	.	.	ENSG00000139574	ENST00000267017	T	0.42131	0.98	4.63	-9.25	0.00666	.	2.507220	0.02252	U	0.066698	T	0.19485	0.0468	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.13575	-1.0504	10	0.15066	T	0.55	.	4.7986	0.13284	0.0851:0.1181:0.2539:0.5429	.	34	O15130	NPFF_HUMAN	T	34	ENSP00000267017:A34T	ENSP00000267017:A34T	A	-	1	0	NPFF	52187426	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.927000	0.00332	-3.248000	0.00205	-1.259000	0.01468	GCG		0.557	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		7	82	0	0	0	1	0	7	82				
NAV1	89796	broad.mit.edu	37	1	201618544	201618544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:201618544C>T	ENST00000367296.4	+	1	1168	c.748C>T	c.(748-750)Cag>Tag	p.Q250*	NAV1_ENST00000367300.3_Nonsense_Mutation_p.Q250*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.Q250*|NAV1_ENST00000367302.1_Nonsense_Mutation_p.Q263*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.Q250*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	250					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCTCTTCAGCCAGATGCTGGG	0.677																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(748-750)Cag>Tag		neuron navigator 1							9.0	11.0	10.0					1																	201618544		2158	4247	6405	SO:0001587	stop_gained	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201618544C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.748C>T	1.37:g.201618544C>T	ENSP00000356265:p.Gln250*					NAV1_ENST00000367302.1_Nonsense_Mutation_p.Q263*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.Q250*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.Q250*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.Q250*	p.Q250*	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			1	1168	+			250					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Nonsense_Mutation	SNP	ENST00000367296.4	37	c.748C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	43	9.982297	0.99310	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	.	.	.	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.0795	17.3345	0.87276	0.0:1.0:0.0:0.0	.	.	.	.	X	263;250;250;250;250	.	ENSP00000295624:Q250X	Q	+	1	0	NAV1	199885167	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.990000	0.76225	2.180000	0.69256	0.313000	0.20887	CAG		0.677	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		3	6	0	0	0	1	0	3	6				
COG6	57511	broad.mit.edu	37	13	40325082	40325082	+	Splice_Site	SNP	G	G	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr13:40325082G>C	ENST00000455146.3	+	19	1876		c.e19-1		COG6_ENST00000416691.1_Intron	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6						glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CTTATCAATAGAGAGCAGATC	0.333																																						ENST00000455146.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.e19-1		component of oligomeric golgi complex 6							59.0	56.0	57.0					13																	40325082		2203	4299	6502	SO:0001630	splice_region_variant	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40325082G>C	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1827-1G>C	13.37:g.40325082G>C						COG6_ENST00000416691.1_Intron		NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	19	1876	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)						Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Splice_Site	SNP	ENST00000455146.3	37		CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299409	0.60195	.	.	ENSG00000133103	ENST00000255468;ENST00000455146	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7723	0.91898	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COG6	39223082	1.000000	0.71417	0.988000	0.46212	0.557000	0.35523	8.797000	0.91882	2.676000	0.91093	0.591000	0.81541	.		0.333	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3		Intron	3	35	0	0	0	1	0	3	35				
COL9A3	1299	broad.mit.edu	37	20	61471965	61471965	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr20:61471965G>C	ENST00000343916.3	+	32	1939	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	646	Triple-helical region 1 (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GCCTCCCGGAGATCCTGGGCT	0.672																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1936-1938)Gat>Cat		collagen, type IX, alpha 3							22.0	26.0	25.0					20																	61471965		2203	4299	6502	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61471965G>C	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1936G>C	20.37:g.61471965G>C	ENSP00000341640:p.Asp646His					COL9A3_ENST00000462700.1_3'UTR	p.D646H	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			32	1939	+	Breast(26;5.68e-08)		646			Triple-helical region 1 (COL1).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1936G>C	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331131	0.60853	.	.	ENSG00000092758	ENST00000343916	T	0.77098	-1.07	5.63	5.63	0.86233	.	0.050986	0.85682	D	0.000000	D	0.85279	0.5660	L	0.50333	1.59	0.58432	D	0.999995	D;D	0.89917	0.991;1.0	D;D	0.72982	0.947;0.979	T	0.82474	-0.0439	10	0.32370	T	0.25	.	19.6754	0.95930	0.0:0.0:1.0:0.0	.	149;646	Q9BT15;Q14050	.;CO9A3_HUMAN	H	646	ENSP00000341640:D646H	ENSP00000341640:D646H	D	+	1	0	COL9A3	60942410	1.000000	0.71417	0.067000	0.19924	0.002000	0.02628	7.449000	0.80643	2.647000	0.89833	0.655000	0.94253	GAT		0.672	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		18	25	0	0	0	1	0	18	25				
POU4F1	5457	broad.mit.edu	37	13	79176022	79176022	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr13:79176022G>A	ENST00000377208.5	-	2	999	c.788C>T	c.(787-789)aCg>aTg	p.T263M	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	263	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GCGCGGGTCCGTGTCCGAGTC	0.776																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	ENST00000377208.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16						c.(787-789)aCg>aTg		POU class 4 homeobox 1							7.0	8.0	8.0					13																	79176022		2172	4261	6433	SO:0001583	missense	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176022G>A	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.788C>T	13.37:g.79176022G>A	ENSP00000366413:p.Thr263Met					RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000430549.2_RNA	p.T263M	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	999	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	263			POU-specific.		Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	c.788C>T	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610017	0.46527	.	.	ENSG00000152192	ENST00000377208	D	0.83673	-1.75	3.19	3.19	0.36642	POU-specific (3);	0.000000	0.85682	U	0.000000	T	0.74574	0.3734	L	0.55481	1.735	0.58432	D	0.999994	B	0.34226	0.443	B	0.25291	0.059	T	0.76945	-0.2771	10	0.87932	D	0	.	8.4368	0.32791	0.1211:0.0:0.8789:0.0	.	263	Q01851	PO4F1_HUMAN	M	263	ENSP00000366413:T263M	ENSP00000366413:T263M	T	-	2	0	POU4F1	78074023	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.069000	0.76755	1.796000	0.52611	0.379000	0.24179	ACG		0.776	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			6	9	0	0	0	1	0	6	9				
IGLV5-37	28783	broad.mit.edu	37	22	22782197	22782197	+	RNA	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr22:22782197C>G	ENST00000390300.2	+	0	200									immunoglobulin lambda variable 5-37																		GGAGCCCTCCCAGGTATCTCC	0.542																																						ENST00000390300.2																			0																				65.0	66.0	66.0					22																	22782197		1921	4131	6052			28783							g.chr22:22782197C>G	Z73672		22q11.2	2012-02-08			ENSG00000211654	ENSG00000211654		"""Immunoglobulins / IGL locus"""	5922	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151069		22.37:g.22782197C>G														0	200	+									RNA	SNP	ENST00000390300.2	37																																																																																						0.542	IGLV5-37-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321173.1	NG_000002		5	143	0	0	0	1	0	5	143				
MYO3A	53904	broad.mit.edu	37	10	26443684	26443684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:26443684G>T	ENST00000265944.5	+	25	2891	c.2725G>T	c.(2725-2727)Gga>Tga	p.G909*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	909	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGGCGACACTGGAGAAGCCAC	0.403																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2725-2727)Gga>Tga		myosin IIIA							108.0	107.0	107.0					10																	26443684		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26443684G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2725G>T	10.37:g.26443684G>T	ENSP00000265944:p.Gly909*					MYO3A_ENST00000543632.1_Intron	p.G909*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			25	2891	+			909			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.2725G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	38	6.719214	0.97788	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.56	3.65	0.41850	.	0.253203	0.47093	D	0.000255	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	7.1273	0.25479	0.1503:0.1421:0.7076:0.0	.	.	.	.	X	909	.	ENSP00000265944:G909X	G	+	1	0	MYO3A	26483690	1.000000	0.71417	0.746000	0.31095	0.062000	0.15995	4.763000	0.62257	0.768000	0.33290	0.650000	0.86243	GGA		0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		21	28	1	0	1.85244e-09	1	2.06807e-09	21	28				
C11orf30	56946	broad.mit.edu	37	11	76255458	76255458	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:76255458C>T	ENST00000529032.1	+	18	2865	c.2865C>T	c.(2863-2865)agC>agT	p.S955S	C11orf30_ENST00000533248.1_Silent_p.S864S|C11orf30_ENST00000525919.1_Silent_p.S956S|C11orf30_ENST00000525038.1_Silent_p.S956S|C11orf30_ENST00000334736.3_Silent_p.S955S|C11orf30_ENST00000524490.1_Silent_p.S857S|C11orf30_ENST00000524767.1_Silent_p.S970S|C11orf30_ENST00000343878.3_Silent_p.S955S			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	955	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGAAACTTAGCCAGCCCCCGC	0.532																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(2863-2865)agC>agT		chromosome 11 open reading frame 30							89.0	83.0	85.0					11																	76255458		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76255458C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2865C>T	11.37:g.76255458C>T						C11orf30_ENST00000334736.3_Silent_p.S955S|C11orf30_ENST00000524490.1_Silent_p.S857S|C11orf30_ENST00000525919.1_Silent_p.S956S|C11orf30_ENST00000525038.1_Silent_p.S956S|C11orf30_ENST00000524767.1_Silent_p.S970S|C11orf30_ENST00000533248.1_Silent_p.S864S|C11orf30_ENST00000343878.3_Silent_p.S955S	p.S955S			Q7Z589	EMSY_HUMAN			18	2865	+			955			Gln-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.2865C>T	CCDS8244.1																																																																																				0.532	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		40	44	0	0	0	1	0	40	44				
ZFP1	162239	broad.mit.edu	37	16	75204063	75204063	+	Missense_Mutation	SNP	A	A	G	rs200868124		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr16:75204063A>G	ENST00000393430.2	+	4	1179	c.1055A>G	c.(1054-1056)tAt>tGt	p.Y352C	ZFP1_ENST00000332307.4_Missense_Mutation_p.Y319C|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.Y352C|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						GAGAAACCCTATGAATGTACT	0.443																																					NSCLC(187;1429 2122 10143 20357 42217)	ENST00000393430.2																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1054-1056)tAt>tGt		ZFP1 zinc finger protein							78.0	72.0	74.0					16																	75204063		2198	4300	6498	SO:0001583	missense	162239				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:75204063A>G	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.1055A>G	16.37:g.75204063A>G	ENSP00000377080:p.Tyr352Cys					ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.Y319C|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.Y352C	p.Y352C			Q6P2D0	ZFP1_HUMAN			4	1179	+			352					A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	c.1055A>G	CCDS10914.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	15.09	2.731427	0.48939	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.25414	1.8	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43579	D	0.000545	T	0.50701	0.1631	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55679	-0.8103	10	0.87932	D	0	-28.0064	7.7735	0.29023	0.8143:0.0:0.0:0.1857	.	352	Q6P2D0	ZFP1_HUMAN	C	352	ENSP00000377080:Y352C	ENSP00000333192:Y352C	Y	+	2	0	ZFP1	73761564	0.776000	0.28616	0.936000	0.37596	0.849000	0.48306	1.724000	0.38064	2.279000	0.76181	0.533000	0.62120	TAT		0.443	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		9	98	0	0	0	1	0	9	98				
TXK	7294	broad.mit.edu	37	4	48073587	48073587	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr4:48073587G>A	ENST00000264316.4	-	14	1547	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	TXK_ENST00000507351.1_Missense_Mutation_p.P143S	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GCCAGGTGAGGGCGATATAGC	0.418																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(1462-1464)Cct>Tct		TXK tyrosine kinase							155.0	149.0	151.0					4																	48073587		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48073587G>A	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1462C>T	4.37:g.48073587G>A	ENSP00000264316:p.Pro488Ser					TXK_ENST00000507351.1_Missense_Mutation_p.P143S	p.P488S	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			14	1547	-			488			Protein kinase.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.1462C>T	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298946	0.60195	.	.	ENSG00000074966	ENST00000264316;ENST00000507351	D;D	0.86230	-2.09;-2.09	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95040	0.8394	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95453	0.8536	10	0.72032	D	0.01	.	18.4504	0.90702	0.0:0.0:1.0:0.0	.	175;488	B4DTB5;P42681	.;TXK_HUMAN	S	488;143	ENSP00000264316:P488S;ENSP00000423481:P143S	ENSP00000264316:P488S	P	-	1	0	TXK	47768344	1.000000	0.71417	0.530000	0.27963	0.009000	0.06853	9.419000	0.97397	2.836000	0.97738	0.655000	0.94253	CCT		0.418	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		97	78	0	0	0	1	0	97	78				
KIAA1244	57221	broad.mit.edu	37	6	138655203	138655203	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:138655203C>T	ENST00000251691.4	+	33	5386	c.5220C>T	c.(5218-5220)ccC>ccT	p.P1740P		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCAAAGGCCCCTCTCCTGGAG	0.478																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(5218-5220)ccC>ccT		KIAA1244							56.0	58.0	57.0					6																	138655203		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138655203C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5220C>T	6.37:g.138655203C>T							p.P1740P	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	33	5386	+	Breast(32;0.135)		1740						Silent	SNP	ENST00000251691.4	37	c.5220C>T	CCDS5189.2																																																																																				0.478	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		36	35	0	0	0	1	0	36	35				
PCDH10	57575	broad.mit.edu	37	4	134072357	134072357	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr4:134072357C>T	ENST00000264360.5	+	1	1888	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	354	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTAATGACAACGCGCCAGAGA	0.627																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1060-1062)aaC>aaT		protocadherin 10							105.0	100.0	102.0					4																	134072357		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072357C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1062C>T	4.37:g.134072357C>T							p.N354N	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1888	+			354			Cadherin 3.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1062C>T	CCDS34063.1																																																																																				0.627	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		48	30	0	0	0	1	0	48	30				
MARCH11	441061	broad.mit.edu	37	5	16091177	16091177	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:16091177G>T	ENST00000332432.8	-	3	906	c.707C>A	c.(706-708)tCt>tAt	p.S236Y	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	236					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CAGTGTTATAGAAATGCTCTG	0.393																																						ENST00000332432.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						c.(706-708)tCt>tAt		membrane-associated ring finger (C3HC4) 11							39.0	39.0	39.0					5																	16091177		1861	4088	5949	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16091177G>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.707C>A	5.37:g.16091177G>T	ENSP00000333181:p.Ser236Tyr					MARCH11_ENST00000505509.1_5'UTR	p.S236Y	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN			3	906	-			236					A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.707C>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610895	0.87258	.	.	ENSG00000183654	ENST00000332432	T	0.59638	0.25	5.54	5.54	0.83059	.	0.114168	0.56097	D	0.000030	T	0.63141	0.2486	N	0.24115	0.695	0.47862	D	0.999538	D	0.65815	0.995	P	0.59703	0.862	T	0.67515	-0.5651	10	0.87932	D	0	-10.1999	19.4713	0.94963	0.0:0.0:1.0:0.0	.	236	A6NNE9	MARHB_HUMAN	Y	236	ENSP00000333181:S236Y	ENSP00000333181:S236Y	S	-	2	0	MARCH11	16144177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.912000	0.87465	2.619000	0.88677	0.655000	0.94253	TCT		0.393	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		6	8	1	0	5.9392e-07	1	6.52693e-07	6	8				
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:7578239C>A	ENST00000269305.4	-	6	799	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	204	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCAAATACTCCACACGCAAA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		63	Substitution - Nonsense(39)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Substitution - Missense(3)|Complex - compound substitution(2)|Deletion - In frame(1)	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)	lung(15)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|NS(5)|breast(4)|bone(4)|oesophagus(3)|ovary(3)|central_nervous_system(2)|stomach(1)|liver(1)|urinary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(610-612)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							133.0	118.0	123.0					17																	7578239		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578239C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.610G>T	17.37:g.7578239C>A	ENSP00000269305:p.Glu204*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E204*	p.E204*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	742	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	204		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.610G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489037	0.44249	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	-0.604	0.11626	.	0.445020	0.26082	N	0.026458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-5.2849	1.4244	0.02320	0.133:0.2829:0.3261:0.258	.	.	.	.	X	204;204;204;204;204;204;193;111;72;111;72	.	ENSP00000269305:E204X	E	-	1	0	TP53	7518964	0.600000	0.26899	0.018000	0.16275	0.030000	0.12068	0.945000	0.29056	-0.004000	0.14419	0.655000	0.94253	GAG		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	19	1	0	8.16721e-17	1	9.73605e-17	26	19				
NOTCH1	4851	broad.mit.edu	37	9	139395258	139395258	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:139395258C>T	ENST00000277541.6	-	31	5755	c.5680G>A	c.(5680-5682)Ggc>Agc	p.G1894S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1894					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCTCCAGGCCGCCCCCGCTG	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5680-5682)Ggc>Agc		notch 1							18.0	23.0	22.0					9																	139395258		2018	4174	6192	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395258C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5680G>A	9.37:g.139395258C>T	ENSP00000277541:p.Gly1894Ser	HNSCC(8;0.001)					p.G1894S	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5755	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1894					Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.5680G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695859	0.88830	.	.	ENSG00000148400	ENST00000277541	T	0.51817	0.69	4.6	4.6	0.57074	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.54050	-0.8351	10	0.22109	T	0.4	.	16.9364	0.86204	0.0:1.0:0.0:0.0	.	1894	P46531	NOTC1_HUMAN	S	1894	ENSP00000277541:G1894S	ENSP00000277541:G1894S	G	-	1	0	NOTCH1	138515079	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.571000	0.82399	2.308000	0.77769	0.536000	0.68110	GGC		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		26	24	0	0	0	1	0	26	24				
EXOC6B	23233	broad.mit.edu	37	2	72740282	72740282	+	Silent	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:72740282G>T	ENST00000272427.6	-	11	1276	c.1146C>A	c.(1144-1146)atC>atA	p.I382I	EXOC6B_ENST00000410104.1_Silent_p.I382I	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	382					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GGAGTGCTGCGATGGTTTTTG	0.388																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(1144-1146)atC>atA		exocyst complex component 6B							141.0	136.0	138.0					2																	72740282		1882	4107	5989	SO:0001819	synonymous_variant	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72740282G>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1146C>A	2.37:g.72740282G>T						EXOC6B_ENST00000410104.1_Silent_p.I382I	p.I382I	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			11	1276	-			382					B8ZZY3	Silent	SNP	ENST00000272427.6	37	c.1146C>A	CCDS46333.1																																																																																				0.388	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		25	35	1	0	5.35356e-11	1	6.00851e-11	25	35				
SLC26A3	1811	broad.mit.edu	37	7	107414497	107414497	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:107414497C>T	ENST00000340010.5	-	17	2059	c.1875G>A	c.(1873-1875)ctG>ctA	p.L625L	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	625	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGTGGAAAGGCAGGTCTGTGG	0.433																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1873-1875)ctG>ctA		solute carrier family 26 (anion exchanger), member 3							310.0	267.0	282.0					7																	107414497		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107414497C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1875G>A	7.37:g.107414497C>T						SLC26A3_ENST00000422236.2_Intron	p.L625L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			17	2059	-			625			STAS.			Silent	SNP	ENST00000340010.5	37	c.1875G>A	CCDS5748.1																																																																																				0.433	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		8	165	0	0	0	1	0	8	165				
AGGF1	55109	broad.mit.edu	37	5	76326776	76326776	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:76326776G>T	ENST00000312916.7	+	1	567	c.185G>T	c.(184-186)aGc>aTc	p.S62I	AGGF1_ENST00000506806.1_Missense_Mutation_p.S62I|AGGF1_ENST00000503538.1_Intron	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	62					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AACGCAGAAAGCAACAACCAG	0.637																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(184-186)aGc>aTc		angiogenic factor with G patch and FHA domains 1							76.0	74.0	75.0					5																	76326776		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76326776G>T	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.185G>T	5.37:g.76326776G>T	ENSP00000316109:p.Ser62Ile					AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Missense_Mutation_p.S62I	p.S62I	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	1	567	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	62					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.185G>T	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683710	0.88639	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.79749	0.93;-1.3	4.15	4.15	0.48705	.	0.049880	0.85682	D	0.000000	D	0.85570	0.5727	L	0.53249	1.67	0.44036	D	0.99676	P;D	0.76494	0.93;0.999	B;D	0.68192	0.289;0.956	D	0.86704	0.1931	10	0.87932	D	0	-20.1907	12.1414	0.54000	0.0:0.0:1.0:0.0	.	62;62	Q8N302;Q8N302-3	AGGF1_HUMAN;.	I	62	ENSP00000316109:S62I;ENSP00000424733:S62I	ENSP00000316109:S62I	S	+	2	0	AGGF1	76362532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.329000	0.52060	2.315000	0.78130	0.555000	0.69702	AGC		0.637	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		30	12	1	0	2.61193e-14	1	3.06176e-14	30	12				
MAPT	4137	broad.mit.edu	37	17	44039726	44039726	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:44039726T>C	ENST00000571987.1	+	1	23	c.23T>C	c.(22-24)tTc>tCc	p.F8S	MAPT_ENST00000351559.5_Missense_Mutation_p.F8S|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000344290.5_Missense_Mutation_p.F8S|MAPT_ENST00000431008.3_Missense_Mutation_p.F8S|MAPT_ENST00000334239.8_Missense_Mutation_p.F8S|MAPT_ENST00000535772.1_Missense_Mutation_p.F8S|MAPT_ENST00000262410.5_Missense_Mutation_p.F8S|MAPT_ENST00000420682.2_Missense_Mutation_p.F8S|MAPT_ENST00000446361.3_Missense_Mutation_p.F8S|MAPT_ENST00000340799.5_Missense_Mutation_p.F8S|MAPT_ENST00000415613.2_Missense_Mutation_p.F8S|MAPT_ENST00000574436.1_Missense_Mutation_p.F8S|MAPT_ENST00000347967.5_5'UTR			P10636	TAU_HUMAN	microtubule-associated protein tau	8					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGCCAGGAGTTCGAAGTGATG	0.577																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(22-24)tTc>tCc		microtubule-associated protein tau							45.0	40.0	42.0					17																	44039726		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44039726T>C	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.23T>C	17.37:g.44039726T>C	ENSP00000458742:p.Phe8Ser					MAPT_ENST00000574436.1_Missense_Mutation_p.F8S|MAPT_ENST00000571987.1_Missense_Mutation_p.F8S|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.F8S|MAPT_ENST00000446361.3_Missense_Mutation_p.F8S|MAPT_ENST00000420682.2_Missense_Mutation_p.F8S|MAPT_ENST00000415613.2_Missense_Mutation_p.F8S|MAPT_ENST00000351559.5_Missense_Mutation_p.F8S|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000340799.5_Missense_Mutation_p.F8S|MAPT_ENST00000334239.8_Missense_Mutation_p.F8S|MAPT_ENST00000262410.5_Missense_Mutation_p.F8S|MAPT_ENST00000431008.3_Missense_Mutation_p.F8S	p.F8S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			2	345	+		Melanoma(429;0.216)	8					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.23T>C	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.043039	0.55003	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613	T;T;T;T;T;T;T;T;T	0.39406	2.78;2.77;2.05;1.3;2.3;1.08;1.29;1.3;2.78	5.12	2.92	0.33932	.	0.174524	0.28016	N	0.016922	T	0.51787	0.1695	L	0.51422	1.61	0.31710	N	0.639665	D;D;D;D;D;D;D	0.89917	1.0;0.995;0.991;0.995;0.995;0.993;0.999	D;D;D;D;D;D;D	0.87578	0.998;0.991;0.993;0.991;0.991;0.922;0.991	T	0.56056	-0.8042	10	0.51188	T	0.08	-6.1778	6.1112	0.20102	0.0:0.1951:0.0:0.8049	.	8;8;8;8;8;8;8	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	S	8	ENSP00000340820:F8S;ENSP00000262410:F8S;ENSP00000303214:F8S;ENSP00000340438:F8S;ENSP00000443028:F8S;ENSP00000408975:F8S;ENSP00000334886:F8S;ENSP00000413056:F8S;ENSP00000410838:F8S	ENSP00000262410:F8S	F	+	2	0	MAPT	41395562	0.117000	0.22190	0.678000	0.29963	0.664000	0.39144	1.114000	0.31196	1.031000	0.39867	0.454000	0.30748	TTC		0.577	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		49	10	0	0	0	1	0	49	10				
LOC220729	220729	broad.mit.edu	37	3	197349091	197349091	+	RNA	SNP	G	G	A	rs200375137	byFrequency	TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:197349091G>A	ENST00000418868.1	-	0	486					NR_003266.2																						GCTCCGTCACGTAGTGGATGG	0.582													g|||	667	0.133187	0.3759	0.0476	5008	,	,		20672	0.0		0.0815	False		,,,				2504	0.0562					ENST00000418868.1																			0																																																			220729							g.chr3:197349091G>A																													3.37:g.197349091G>A								NR_003266.2						0	486	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.582	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	74	0	0	0	1	0	5	74				
PPP1R26	9858	broad.mit.edu	37	9	138376947	138376947	+	Silent	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:138376947C>A	ENST00000356818.2	+	4	1140	c.591C>A	c.(589-591)ggC>ggA	p.G197G	PPP1R26_ENST00000605660.1_Silent_p.G197G|PPP1R26_ENST00000401470.3_Silent_p.G197G|PPP1R26_ENST00000604351.1_Silent_p.G197G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Silent_p.G197G	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	197					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGGTGGTGGCCCCGGCAGCC	0.652																																						ENST00000356818.2																			0											c.(589-591)ggC>ggA		protein phosphatase 1, regulatory subunit 26							37.0	45.0	42.0					9																	138376947		2201	4293	6494	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138376947C>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.591C>A	9.37:g.138376947C>A						PPP1R26_ENST00000605286.1_Silent_p.G197G|PPP1R26_ENST00000604351.1_Silent_p.G197G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.G197G|PPP1R26_ENST00000605660.1_Silent_p.G197G	p.G197G	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1140	+			197					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.591C>A	CCDS6988.1																																																																																				0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		6	105	1	0	0.0215528	1	0.0218636	6	105				
ZFYVE1	53349	broad.mit.edu	37	14	73440836	73440836	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr14:73440836C>T	ENST00000556143.1	-	11	2773	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.V671M|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.V685M|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.V270M|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.V270M|ZFYVE1_ENST00000554145.1_5'Flank	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	685					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTGTTCTGCACGGCCTCGCCC	0.557																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(2053-2055)Gtg>Atg		zinc finger, FYVE domain containing 1							145.0	113.0	124.0					14																	73440836		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73440836C>T	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.2053G>A	14.37:g.73440836C>T	ENSP00000450742:p.Val685Met					ZFYVE1_ENST00000553891.1_Missense_Mutation_p.V685M|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.V270M|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.V671M|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.V270M	p.V685M	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	11	2773	-		all_lung(585;1.33e-09)	685					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.2053G>A	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962464	0.92791	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.67523	-0.27;-0.27;-0.26;-0.21;-0.21	5.54	5.54	0.83059	.	0.114861	0.64402	D	0.000016	D	0.82508	0.5052	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.76071	0.987;0.818	T	0.83237	-0.0060	10	0.72032	D	0.01	-18.4159	19.6787	0.95950	0.0:1.0:0.0:0.0	.	685;685	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	M	685;671;685;270;270	ENSP00000452442:V685M;ENSP00000326921:V671M;ENSP00000450742:V685M;ENSP00000377757:V270M;ENSP00000452232:V270M	ENSP00000326921:V685M	V	-	1	0	ZFYVE1	72510589	1.000000	0.71417	0.973000	0.42090	0.677000	0.39632	7.627000	0.83176	2.884000	0.98904	0.655000	0.94253	GTG		0.557	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		25	109	0	0	0	1	0	25	109				
CCDC50	152137	broad.mit.edu	37	3	191047497	191047497	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:191047497C>T	ENST00000392455.3	+	1	632	c.34C>T	c.(34-36)Cct>Tct	p.P12S	UTS2B_ENST00000340524.5_Intron|UTS2B_ENST00000490825.1_5'Flank|CCDC50_ENST00000392456.3_Missense_Mutation_p.P12S	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	12						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTCCAAGCTGCCTGGAGTCAA	0.692																																						ENST00000392455.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.(34-36)Cct>Tct		coiled-coil domain containing 50							26.0	28.0	27.0					3																	191047497		2200	4297	6497	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191047497C>T	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.34C>T	3.37:g.191047497C>T	ENSP00000376249:p.Pro12Ser					UTS2B_ENST00000340524.5_Intron|CCDC50_ENST00000392456.3_Missense_Mutation_p.P12S	p.P12S	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	1	632	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		12					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.34C>T	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028112	0.35797	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.56444	0.46;0.46	4.24	4.24	0.50183	.	0.059158	0.64402	D	0.000002	T	0.51991	0.1707	M	0.65498	2.005	0.45139	D	0.998155	B;B	0.16603	0.015;0.018	B;B	0.23574	0.034;0.047	T	0.57159	-0.7859	10	0.72032	D	0.01	.	12.3136	0.54942	0.0:1.0:0.0:0.0	.	12;12	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	S	12	ENSP00000376249:P12S;ENSP00000376250:P12S	ENSP00000376249:P12S	P	+	1	0	CCDC50	192530191	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	3.081000	0.50120	2.329000	0.79093	0.563000	0.77884	CCT		0.692	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		28	13	0	0	0	1	0	28	13				
RNF148	378925	broad.mit.edu	37	7	122342525	122342525	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:122342525T>A	ENST00000434824.1	-	1	496	c.280A>T	c.(280-282)Agg>Tgg	p.R94W	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	94	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TGTTTGGGCCTGCTGAAATTG	0.507																																						ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(280-282)Agg>Tgg		ring finger protein 148							134.0	133.0	133.0					7																	122342525		2052	4206	6258	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342525T>A	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.280A>T	7.37:g.122342525T>A	ENSP00000388207:p.Arg94Trp					CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron	p.R94W	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	496	-			94			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.280A>T	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.956183	0.53293	.	.	ENSG00000235631	ENST00000434824	T	0.04603	3.59	5.25	5.25	0.73442	.	.	.	.	.	T	0.18257	0.0438	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.00247	-1.1881	9	0.52906	T	0.07	.	13.3799	0.60761	0.0:0.0:0.0:1.0	.	94	Q8N7C7	RN148_HUMAN	W	94	ENSP00000388207:R94W	ENSP00000388207:R94W	R	-	1	2	RNF148	122129761	0.963000	0.33076	1.000000	0.80357	0.687000	0.40016	1.435000	0.34969	1.980000	0.57719	0.454000	0.30748	AGG		0.507	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		69	105	0	0	0	1	0	69	105				
LRRC55	219527	broad.mit.edu	37	11	56950010	56950010	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:56950010G>A	ENST00000497933.1	+	1	790	c.643G>A	c.(643-645)Ggg>Agg	p.G215R		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	185	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTCAGTTATGGGGGCCTGGC	0.647																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(643-645)Ggg>Agg		leucine rich repeat containing 55							58.0	59.0	59.0					11																	56950010		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950010G>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.643G>A	11.37:g.56950010G>A	ENSP00000419542:p.Gly215Arg						p.G215R	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	790	+			185			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.643G>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763757	0.69878	.	.	ENSG00000183908	ENST00000497933	T	0.02369	4.32	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000010	T	0.05044	0.0135	N	0.14661	0.345	0.34083	D	0.659819	P	0.42908	0.793	P	0.53988	0.739	T	0.38373	-0.9664	10	0.66056	D	0.02	.	12.3989	0.55402	0.0773:0.0:0.9227:0.0	.	185	Q6ZSA7	LRC55_HUMAN	R	215	ENSP00000419542:G215R	ENSP00000419542:G215R	G	+	1	0	LRRC55	56706586	1.000000	0.71417	0.933000	0.37362	0.859000	0.49053	6.237000	0.72345	2.793000	0.96121	0.655000	0.94253	GGG		0.647	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		26	44	0	0	0	1	0	26	44				
PSG4	5672	broad.mit.edu	37	19	43702201	43702201	+	Silent	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:43702201T>A	ENST00000405312.3	-	3	894	c.657A>T	c.(655-657)atA>atT	p.I219I	PSG4_ENST00000244295.9_Silent_p.I219I|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	219	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTGGGTTCCGTATTTCACATT	0.507																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(655-657)atA>atT		pregnancy specific beta-1-glycoprotein 4							59.0	74.0	69.0					19																	43702201		2121	4267	6388	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43702201T>A		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.657A>T	19.37:g.43702201T>A						PSG4_ENST00000244295.9_Silent_p.I219I|PSG4_ENST00000433626.2_Intron	p.I219I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			3	894	-		Prostate(69;0.00682)	219			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.657A>T	CCDS46093.1																																																																																				0.507	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		23	135	0	0	0	1	0	23	135				
SYT12	91683	broad.mit.edu	37	11	66802276	66802276	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:66802276G>T	ENST00000393946.2	+	6	1357	c.195G>T	c.(193-195)aaG>aaT	p.K65N	SYT12_ENST00000525457.1_Missense_Mutation_p.K65N|SYT12_ENST00000526281.1_Intron|SYT12_ENST00000527043.1_Missense_Mutation_p.K65N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	65						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TTCAGCAGAAGTACGGCGAGA	0.607																																					Ovarian(65;2862 3307)	ENST00000393946.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(193-195)aaG>aaT		synaptotagmin XII							79.0	80.0	79.0					11																	66802276		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66802276G>T	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.195G>T	11.37:g.66802276G>T	ENSP00000377520:p.Lys65Asn					SYT12_ENST00000527043.1_Missense_Mutation_p.K65N|SYT12_ENST00000525457.1_Missense_Mutation_p.K65N|SYT12_ENST00000526281.1_Intron	p.K65N			Q8IV01	SYT12_HUMAN			6	1357	+			65						Missense_Mutation	SNP	ENST00000393946.2	37	c.195G>T	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322730	0.60634	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.17054	2.3;2.3;2.3	4.94	2.01	0.26516	.	0.057489	0.64402	D	0.000002	T	0.22044	0.0531	L	0.27053	0.805	0.52501	D	0.999952	D	0.71674	0.998	D	0.73708	0.981	T	0.02202	-1.1196	10	0.34782	T	0.22	.	6.8773	0.24153	0.391:0.0:0.609:0.0	.	65	Q8IV01	SYT12_HUMAN	N	65	ENSP00000377520:K65N;ENSP00000431400:K65N;ENSP00000435316:K65N	ENSP00000377520:K65N	K	+	3	2	SYT12	66558852	1.000000	0.71417	0.996000	0.52242	0.801000	0.45260	1.126000	0.31344	0.129000	0.18514	0.563000	0.77884	AAG		0.607	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		19	68	1	0	5.26018e-13	1	6.06501e-13	19	68				
SLC12A7	10723	broad.mit.edu	37	5	1087063	1087063	+	Silent	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:1087063C>A	ENST00000264930.5	-	6	673	c.630G>T	c.(628-630)acG>acT	p.T210T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	210					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCCTGCAAACGTCGTGCCCA	0.572																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(628-630)acG>acT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						66.0	64.0	65.0					5																	1087063		2202	4300	6502	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1087063C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.630G>T	5.37:g.1087063C>A							p.T210T	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		6	673	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		210					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.630G>T	CCDS34129.1																																																																																				0.572	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		31	55	1	0	2.68265e-12	1	3.04322e-12	31	55				
OR8K3	219473	broad.mit.edu	37	11	56086206	56086206	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:56086206C>G	ENST00000312711.1	+	1	424	c.424C>G	c.(424-426)Cag>Gag	p.Q142E		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AAGGGTATGTCAGGTGCTGGT	0.418																																						ENST00000312711.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(424-426)Cag>Gag		olfactory receptor, family 8, subfamily K, member 3							121.0	117.0	119.0					11																	56086206		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086206C>G	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.424C>G	11.37:g.56086206C>G	ENSP00000323555:p.Gln142Glu						p.Q142E	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	424	+	Esophageal squamous(21;0.00448)		142					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.424C>G	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026425	0.08054	.	.	ENSG00000181689	ENST00000312711	T	0.37058	1.22	4.56	-2.64	0.06114	GPCR, rhodopsin-like superfamily (1);	2.130780	0.01694	N	0.026782	T	0.34571	0.0902	L	0.54323	1.7	0.09310	N	1	B	0.23891	0.093	B	0.33121	0.158	T	0.19647	-1.0299	10	0.33940	T	0.23	.	3.5829	0.07959	0.1053:0.2916:0.1044:0.4987	.	142	Q8NH51	OR8K3_HUMAN	E	142	ENSP00000323555:Q142E	ENSP00000323555:Q142E	Q	+	1	0	OR8K3	55842782	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.332000	0.01109	-0.408000	0.07565	0.573000	0.79308	CAG		0.418	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		45	52	0	0	0	1	0	45	52				
CACNA1H	8912	broad.mit.edu	37	16	1254215	1254215	+	Silent	SNP	C	C	T	rs376616017		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr16:1254215C>T	ENST00000348261.5	+	10	2456	c.2208C>T	c.(2206-2208)caC>caT	p.H736H	CACNA1H_ENST00000358590.4_Silent_p.H736H|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Silent_p.H736H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	736					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.H736H(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACGTCCGGCACGGTGACCGCT	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14767	0.0		0.0	False		,,,				2504	0.0					ENST00000348261.5																			1	Substitution - coding silent(1)	p.H736H(1)	prostate(1)	breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2206-2208)caC>caT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)	C	,	0,4318		0,0,2159	20.0	26.0	24.0		2208,2208	-5.6	0.0	16		24	1,8507		0,1,4253	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,1,6412	TT,TC,CC		0.0118,0.0,0.0078	,	736/2348,736/2354	1254215	1,12825	2159	4254	6413	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1254215C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2208C>T	16.37:g.1254215C>T						CACNA1H_ENST00000358590.4_Silent_p.H736H|CACNA1H_ENST00000565831.1_Silent_p.H736H	p.H736H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			10	2456	+		Hepatocellular(780;0.00369)	736					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.2208C>T	CCDS45375.1																																																																																				0.716	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		5	25	0	0	0	1	0	5	25				
MTIF2	4528	broad.mit.edu	37	2	55464538	55464538	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:55464538A>T	ENST00000263629.4	-	15	2212	c.1897T>A	c.(1897-1899)Tct>Act	p.S633T	MTIF2_ENST00000403721.1_Missense_Mutation_p.S633T|MTIF2_ENST00000394600.3_Missense_Mutation_p.S633T	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	633					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TCTGTTACAGAGAAGGTAGCT	0.368																																						ENST00000394600.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(1897-1899)Tct>Act		mitochondrial translational initiation factor 2							71.0	69.0	70.0					2																	55464538		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55464538A>T	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1897T>A	2.37:g.55464538A>T	ENSP00000263629:p.Ser633Thr					MTIF2_ENST00000403721.1_Missense_Mutation_p.S633T|MTIF2_ENST00000263629.4_Missense_Mutation_p.S633T	p.S633T	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN			16	2633	-			633					D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.1897T>A	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.436812	0.25900	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600	T;T;T	0.57752	0.38;0.38;0.38	5.36	2.87	0.33458	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.389936	0.29508	N	0.011951	T	0.29389	0.0732	N	0.12746	0.255	0.26904	N	0.967044	B	0.02656	0.0	B	0.01281	0.0	T	0.13176	-1.0519	10	0.33141	T	0.24	-3.6299	6.2961	0.21087	0.48:0.2562:0.0:0.2638	.	633	P46199	IF2M_HUMAN	T	633	ENSP00000384481:S633T;ENSP00000263629:S633T;ENSP00000378099:S633T	ENSP00000263629:S633T	S	-	1	0	MTIF2	55318042	0.873000	0.30073	0.973000	0.42090	0.837000	0.47467	1.182000	0.32029	0.370000	0.24538	0.460000	0.39030	TCT		0.368	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		28	59	0	0	0	1	0	28	59				
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR	p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		4	119	0	0	0	1	0	4	119				
SPINK4	27290	broad.mit.edu	37	9	33221053	33221053	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:33221053A>T	ENST00000379725.1	+	2	199	c.77A>T	c.(76-78)gAt>gTt	p.D26V	SPINK4_ENST00000379723.1_Missense_Mutation_p.D26V			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	0					response to drug (GO:0042493)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			CTGCTGGGGGATGCTTCGCAC	0.522																																						ENST00000379725.1																			0				lung(1)	1						c.(76-78)gAt>gTt		serine peptidase inhibitor, Kazal type 4							61.0	55.0	57.0					9																	33221053		876	1991	2867	SO:0001583	missense	27290					extracellular region	serine-type endopeptidase inhibitor activity	g.chr9:33221053A>T	AF048700	CCDS6536.1	9p13.3	2011-08-31	2005-08-17		ENSG00000122711	ENSG00000122711		"""Serine peptidase inhibitors, Kazal type"""	16646	protein-coding gene	gene with protein product		613929	"""serine protease inhibitor, Kazal type 4"""			1400298, 17333166	Standard	NM_014471		Approved	PEC-60, MGC133107	uc003zsh.3	O60575	OTTHUMG00000019762	ENST00000379725.1:c.77A>T	9.37:g.33221053A>T	ENSP00000369048:p.Asp26Val					SPINK4_ENST00000379723.1_Missense_Mutation_p.D26V	p.D26V			O60575	ISK4_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		2	199	+			0					Q2YDT7	Missense_Mutation	SNP	ENST00000379725.1	37	c.77A>T		.	.	.	.	.	.	.	.	.	.	A	8.195	0.796926	0.16327	.	.	ENSG00000122711	ENST00000379725;ENST00000379723	T;T	0.73681	-0.77;-0.77	2.66	1.45	0.22620	.	2.903640	0.00934	N	0.002746	T	0.70842	0.3270	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.58549	-0.7617	7	0.87932	D	0	.	5.6178	0.17440	0.7145:0.2855:0.0:0.0	.	.	.	.	V	26	ENSP00000369048:D26V;ENSP00000369046:D26V	ENSP00000369046:D26V	D	+	2	0	SPINK4	33211053	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.136000	0.15974	0.407000	0.25591	0.460000	0.39030	GAT		0.522	SPINK4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052036.1	NM_014471		26	7	0	0	0	1	0	26	7				
INF2	64423	broad.mit.edu	37	14	105180723	105180723	+	Missense_Mutation	SNP	G	G	A	rs370169829		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr14:105180723G>A	ENST00000392634.4	+	21	3336	c.3224G>A	c.(3223-3225)cGt>cAt	p.R1075H	INF2_ENST00000330634.7_Missense_Mutation_p.R1075H	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1075					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CTGGAGAGGCGTTCTTCCTGG	0.672																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3223-3225)cGt>cAt		inverted formin, FH2 and WH2 domain containing		G	HIS/ARG,HIS/ARG	1,3871		0,1,1935	41.0	49.0	46.0		3224,3224	3.2	0.1	14		46	0,8236		0,0,4118	no	missense,missense	INF2	NM_001031714.3,NM_022489.3	29,29	0,1,6053	AA,AG,GG		0.0,0.0258,0.0083	probably-damaging,probably-damaging	1075/1241,1075/1250	105180723	1,12107	1936	4118	6054	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105180723G>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3224G>A	14.37:g.105180723G>A	ENSP00000376410:p.Arg1075His					INF2_ENST00000330634.7_Missense_Mutation_p.R1075H	p.R1075H	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3336	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1075					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3224G>A	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959955	0.53400	2.58E-4	0.0	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.82081	-1.56;-1.57	4.06	3.16	0.36331	.	2.226690	0.02138	N	0.056942	D	0.85234	0.5650	L	0.34521	1.04	0.47476	D	0.99943	D;D	0.65815	0.995;0.991	P;P	0.58077	0.832;0.683	T	0.73455	-0.3977	10	0.62326	D	0.03	.	8.2178	0.31524	0.1173:0.0:0.8827:0.0	.	1075;1075	Q27J81-2;Q27J81	.;INF2_HUMAN	H	1075	ENSP00000376406:R1075H;ENSP00000376410:R1075H	ENSP00000252527:R543H	R	+	2	0	INF2	104251768	0.994000	0.37717	0.062000	0.19696	0.955000	0.61496	2.536000	0.45693	1.006000	0.39211	0.491000	0.48974	CGT		0.672	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		14	2	0	0	0	1	0	14	2				
KCNF1	3754	broad.mit.edu	37	2	11053470	11053470	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:11053470C>G	ENST00000295082.1	+	1	1408	c.918C>G	c.(916-918)caC>caG	p.H306Q		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	306					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGCCCGCCACTCCTCGGGCC	0.637																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(916-918)caC>caG		potassium voltage-gated channel, subfamily F, member 1							54.0	52.0	53.0					2																	11053470		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053470C>G	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.918C>G	2.37:g.11053470C>G	ENSP00000295082:p.His306Gln						p.H306Q	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1408	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		306					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.918C>G	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	c	15.92	2.975890	0.53720	.	.	ENSG00000162975	ENST00000295082	D	0.98329	-4.87	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98492	0.9497	M	0.74647	2.275	0.45580	D	0.998524	D	0.76494	0.999	D	0.75020	0.985	D	0.98686	1.0694	10	0.87932	D	0	.	9.9605	0.41693	0.0:0.8411:0.0:0.1589	.	306	Q9H3M0	KCNF1_HUMAN	Q	306	ENSP00000295082:H306Q	ENSP00000295082:H306Q	H	+	3	2	KCNF1	10970921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.979000	0.29500	2.348000	0.79779	0.556000	0.70494	CAC		0.637	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		16	56	0	0	0	1	0	16	56				
TET3	200424	broad.mit.edu	37	2	74320729	74320729	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:74320729C>A	ENST00000409262.3	+	7	2798	c.2798C>A	c.(2797-2799)gCc>gAc	p.A933D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	933					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGGTCACGGCCTGCATGGAC	0.607																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2797-2799)gCc>gAc		tet methylcytosine dioxygenase 3							73.0	78.0	76.0					2																	74320729		2048	4228	6276	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74320729C>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2798C>A	2.37:g.74320729C>A	ENSP00000386869:p.Ala933Asp						p.A933D	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			7	2798	+			933					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2798C>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707559	0.89018	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.14266	2.52	5.21	4.32	0.51571	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.110952	0.64402	D	0.000011	T	0.39489	0.1080	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41142	-0.9525	10	0.87932	D	0	.	14.1284	0.65238	0.1516:0.8484:0.0:0.0	.	933	O43151	TET3_HUMAN	D	933	ENSP00000386869:A933D	ENSP00000233310:A933D	A	+	2	0	TET3	74174237	1.000000	0.71417	0.979000	0.43373	0.895000	0.52256	7.651000	0.83577	1.388000	0.46506	0.655000	0.94253	GCC		0.607	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			69	56	1	0	2.19297e-23	1	2.65929e-23	69	56				
PON2	5445	broad.mit.edu	37	7	95034721	95034721	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:95034721C>T	ENST00000222572.3	-	9	1232	c.986G>A	c.(985-987)gGa>gAa	p.G329E	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000536183.1_Missense_Mutation_p.G350E|PON2_ENST00000433091.2_Missense_Mutation_p.G317E			Q15165	PON2_HUMAN	paraoxonase 2	329					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TACAGAACTTCCTTGGAGAAC	0.428																																					GBM(42;803 823 13649 23368 31463)	ENST00000536183.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(1048-1050)gGa>gAa		paraoxonase 2							172.0	142.0	152.0					7																	95034721		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95034721C>T	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.986G>A	7.37:g.95034721C>T	ENSP00000222572:p.Gly329Glu					PON2_ENST00000222572.3_Missense_Mutation_p.G329E|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.G317E	p.G350E	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		9	1232	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		329					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.1049G>A	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649556	0.29336	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.42131	0.98;0.98;0.98	4.81	3.93	0.45458	Six-bladed beta-propeller, TolB-like (1);	0.052176	0.85682	D	0.000000	T	0.65154	0.2664	M	0.86740	2.835	0.50171	D	0.999857	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68265	-0.5454	10	0.54805	T	0.06	-27.082	9.1853	0.37168	0.0:0.7767:0.146:0.0774	.	329;329	A4D1H7;Q15165	.;PON2_HUMAN	E	350;327;317;329	ENSP00000440282:G350E;ENSP00000404622:G317E;ENSP00000222572:G329E	ENSP00000222572:G329E	G	-	2	0	PON2	94872657	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	4.290000	0.59019	1.396000	0.46663	-0.142000	0.14014	GGA		0.428	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305		9	102	0	0	0	1	0	9	102				
DNM1P47	100216544	broad.mit.edu	37	15	102293008	102293008	+	RNA	SNP	A	A	C	rs373885613		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr15:102293008A>C	ENST00000561463.1	+	0	1054									DNM1 pseudogene 47									p.K171E(1)									GCGTGGGAACAAGAAGACACT	0.582																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.K171E(1)	kidney(1)																																																100216544							g.chr15:102293008A>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293008A>C														0	1054	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	43	0	0	0	1	0	3	43				
JMJD1C	221037	broad.mit.edu	37	10	64975341	64975341	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:64975341C>G	ENST00000399262.2	-	6	1012	c.794G>C	c.(793-795)cGt>cCt	p.R265P	JMJD1C_ENST00000542921.1_Missense_Mutation_p.R83P|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R46P|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R46P	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	265					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGATTGGCACGAGACCTGCG	0.368																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(793-795)cGt>cCt		jumonji domain containing 1C							102.0	92.0	95.0					10																	64975341		1896	4124	6020	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64975341C>G	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.794G>C	10.37:g.64975341C>G	ENSP00000382204:p.Arg265Pro					JMJD1C_ENST00000399251.1_Missense_Mutation_p.R46P|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R46P|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R83P	p.R265P	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			6	1012	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		265					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.794G>C	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155253	0.94686	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.28	5.28	0.74379	.	0.072737	0.56097	U	0.000033	T	0.31451	0.0797	L	0.54323	1.7	0.80722	D	1	D;D	0.69078	0.996;0.997	P;P	0.61003	0.882;0.862	T	0.00875	-1.1531	10	0.48119	T	0.1	-10.3808	18.9044	0.92454	0.0:1.0:0.0:0.0	.	265;83	Q15652;A0T124	JHD2C_HUMAN;.	P	265;46;46;83	ENSP00000382204:R265P;ENSP00000384990:R46P;ENSP00000382195:R46P;ENSP00000444682:R83P	ENSP00000382195:R46P	R	-	2	0	JMJD1C	64645347	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.052000	0.71080	2.473000	0.83533	0.655000	0.94253	CGT		0.368	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		26	64	0	0	0	1	0	26	64				
CCDC114	93233	broad.mit.edu	37	19	48806100	48806100	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:48806100C>T	ENST00000315396.7	-	10	1662	c.980G>A	c.(979-981)aGc>aAc	p.S327N		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	327					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGCACGTGCGCTCACCAAAGC	0.617																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(979-981)aGc>aAc		coiled-coil domain containing 114							80.0	74.0	76.0					19																	48806100		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806100C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.980G>A	19.37:g.48806100C>T	ENSP00000318429:p.Ser327Asn						p.S327N	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	10	1662	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	327					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.980G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	8.290	0.817536	0.16607	.	.	ENSG00000105479	ENST00000315396	T	0.21734	1.99	3.6	-7.2	0.01495	.	.	.	.	.	T	0.10078	0.0247	N	0.20986	0.625	0.09310	N	1	B;B;B	0.14012	0.001;0.001;0.009	B;B;B	0.12156	0.001;0.005;0.007	T	0.31998	-0.9923	9	0.25106	T	0.35	-10.5366	5.8796	0.18848	0.0:0.2499:0.3937:0.3564	.	120;327;327	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	N	327	ENSP00000318429:S327N	ENSP00000318429:S327N	S	-	2	0	CCDC114	53497912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.850000	0.04317	-1.590000	0.01623	-1.262000	0.01453	AGC		0.617	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		59	25	0	0	0	1	0	59	25				
NUMA1	4926	broad.mit.edu	37	11	71729878	71729878	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:71729878T>C	ENST00000393695.3	-	10	1064	c.733A>G	c.(733-735)Acc>Gcc	p.T245A	NUMA1_ENST00000351960.6_Missense_Mutation_p.T245A|NUMA1_ENST00000358965.6_Missense_Mutation_p.T245A|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCTCGGTGAGGAGCTTG	0.577			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(733-735)Acc>Gcc		nuclear mitotic apparatus protein 1							100.0	93.0	96.0					11																	71729878		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71729878T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.733A>G	11.37:g.71729878T>C	ENSP00000377298:p.Thr245Ala					NUMA1_ENST00000351960.6_Missense_Mutation_p.T245A|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.T245A	p.T245A	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			10	1064	-			245						Missense_Mutation	SNP	ENST00000393695.3	37	c.733A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616003	0.28801	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217	T;T;T;T;T	0.39406	2.34;2.9;2.89;1.67;1.08	5.98	4.86	0.63082	.	0.218091	0.42294	D	0.000725	T	0.15955	0.0384	N	0.04880	-0.145	0.23016	N	0.998424	B;B;B;B;B;B	0.31318	0.222;0.004;0.004;0.007;0.319;0.001	B;B;B;B;B;B	0.26416	0.054;0.009;0.009;0.003;0.069;0.002	T	0.20907	-1.0261	10	0.08599	T	0.76	.	5.8805	0.18852	0.0:0.2414:0.0:0.7586	.	245;245;245;245;245;245	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	A	245	ENSP00000260051:T245A;ENSP00000351851:T245A;ENSP00000377298:T245A;ENSP00000444880:T245A;ENSP00000442936:T245A	ENSP00000260051:T245A	T	-	1	0	NUMA1	71407526	0.777000	0.28628	0.995000	0.50966	0.972000	0.66771	0.809000	0.27168	2.289000	0.77006	0.533000	0.62120	ACC		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			26	60	0	0	0	1	0	26	60				
ERICH3	127254	broad.mit.edu	37	1	75038093	75038093	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:75038093C>G	ENST00000326665.5	-	14	3519	c.3301G>C	c.(3301-3303)Gaa>Caa	p.E1101Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1101	Glu-rich.			E -> G (in Ref. 4; BAC86994). {ECO:0000305}.						NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCCCTTCTTCCGCTTTAAGT	0.453																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3301-3303)Gaa>Caa		chromosome 1 open reading frame 173							121.0	129.0	127.0					1																	75038093		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038093C>G																												ENST00000326665.5:c.3301G>C	1.37:g.75038093C>G	ENSP00000322609:p.Glu1101Gln					C1orf173_ENST00000433746.2_5'UTR	p.E1101Q	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3519	-			1101	E -> G (in Ref. 4; BAC86994).		Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3301G>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513812	0.44763	.	.	ENSG00000178965	ENST00000326665	T	0.18174	2.23	5.03	3.16	0.36331	.	.	.	.	.	T	0.07683	0.0193	L	0.36672	1.1	0.09310	N	0.999998	P	0.51351	0.944	P	0.50617	0.646	T	0.22382	-1.0218	9	0.23891	T	0.37	-5.7128	7.866	0.29537	0.0:0.7389:0.0:0.2611	.	1101	Q5RHP9	CA173_HUMAN	Q	1101	ENSP00000322609:E1101Q	ENSP00000322609:E1101Q	E	-	1	0	C1orf173	74810681	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.263000	0.18478	0.534000	0.28695	0.561000	0.74099	GAA		0.453	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			4	118	0	0	0	1	0	4	118				
KRT71	112802	broad.mit.edu	37	12	52941979	52941979	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr12:52941979G>A	ENST00000267119.5	-	5	1004	c.935C>T	c.(934-936)gCc>gTc	p.A312V		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	312	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		ACTCTTCAAGGCAATCTCCTC	0.577																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(934-936)gCc>gTc		keratin 71							174.0	138.0	150.0					12																	52941979		2203	4300	6503	SO:0001583	missense	112802						structural molecule activity	g.chr12:52941979G>A	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.935C>T	12.37:g.52941979G>A	ENSP00000267119:p.Ala312Val						p.A312V	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	5	1004	-			312			Coil 2.|Rod.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.935C>T	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690707	0.68271	.	.	ENSG00000139648	ENST00000267119	D	0.89681	-2.55	4.19	4.19	0.49359	Filament (1);	0.000000	0.44902	D	0.000412	D	0.93559	0.7944	M	0.87456	2.885	0.49213	D	0.99976	P	0.49559	0.925	P	0.59012	0.85	D	0.94045	0.7313	10	0.62326	D	0.03	.	12.0221	0.53350	0.0861:0.0:0.9139:0.0	.	312	Q3SY84	K2C71_HUMAN	V	312	ENSP00000267119:A312V	ENSP00000267119:A312V	A	-	2	0	KRT71	51228246	1.000000	0.71417	0.990000	0.47175	0.237000	0.25408	7.941000	0.87700	2.275000	0.75901	0.650000	0.86243	GCC		0.577	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		40	67	0	0	0	1	0	40	67				
EIF3A	8661	broad.mit.edu	37	10	120840149	120840149	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:120840149G>A	ENST00000369144.3	-	1	167	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	EIF3A_ENST00000541549.1_5'Flank	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCGTTGGCGCGTTTGAGGGCA	0.706																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(40-42)Cgc>Tgc		eukaryotic translation initiation factor 3, subunit A							17.0	19.0	18.0					10																	120840149		2200	4294	6494	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120840149G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.40C>T	10.37:g.120840149G>A	ENSP00000358140:p.Arg14Cys					EIF3A_ENST00000478852.1_5'UTR	p.R14C	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	1	167	-		Lung NSC(174;0.094)|all_lung(145;0.123)	14					B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.40C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338346	0.81911	.	.	ENSG00000107581	ENST00000369144	T	0.49139	0.79	3.99	3.99	0.46301	.	.	.	.	.	T	0.71082	0.3298	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.78420	-0.2211	9	0.87932	D	0	-4.7157	15.93	0.79651	0.0:0.0:1.0:0.0	.	14	Q14152	EIF3A_HUMAN	C	14	ENSP00000358140:R14C	ENSP00000358140:R14C	R	-	1	0	EIF3A	120830139	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.136000	0.71703	2.051000	0.60960	0.551000	0.68910	CGC		0.706	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		13	10	0	0	0	1	0	13	10				
IGSF3	3321	broad.mit.edu	37	1	117122372	117122372	+	Silent	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:117122372G>A	ENST00000369486.3	-	10	3741	c.2976C>T	c.(2974-2976)tcC>tcT	p.S992S	IGSF3_ENST00000318837.6_Silent_p.S1012S|IGSF3_ENST00000369483.1_Silent_p.S1012S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	992	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TAGTCCTCAGGGAATACCAGG	0.612																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(2974-2976)tcC>tcT		immunoglobulin superfamily, member 3							32.0	33.0	33.0					1																	117122372		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117122372G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2976C>T	1.37:g.117122372G>A						IGSF3_ENST00000318837.6_Silent_p.S1012S|IGSF3_ENST00000369483.1_Silent_p.S1012S	p.S992S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	3741	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	992			Ig-like C2-type 8.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.2976C>T	CCDS30813.1																																																																																				0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		8	49	0	0	0	1	0	8	49				
NLRC3	197358	broad.mit.edu	37	16	3613872	3613872	+	RNA	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr16:3613872G>A	ENST00000301749.7	-	0	1471				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCCTCGGGGGCCACAGCTCT	0.662																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							33.0	37.0	36.0					16																	3613872		1996	4151	6147			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613872G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613872G>A						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1471	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	G	0.003	-2.554641	0.00138	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.15	0.955	0.19602	.	0.535420	0.19112	N	0.122408	T	0.67711	0.2922	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.52711	-0.8539	9	0.34782	T	0.22	.	3.973	0.09462	0.3048:0.1935:0.5017:0.0	.	403	C9JLH9	.	S	356;356;356;403;338	ENSP00000301749:P356S;ENSP00000352039:P356S;ENSP00000414415:P403S;ENSP00000323897:P338S	ENSP00000301749:P356S	P	-	1	0	NLRC3	3553873	0.005000	0.15991	0.002000	0.10522	0.409000	0.31022	0.072000	0.14617	0.177000	0.19895	-0.137000	0.14449	CCC		0.662	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		39	68	0	0	0	1	0	39	68				
LAMA5	3911	broad.mit.edu	37	20	60895706	60895706	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr20:60895706A>C	ENST00000252999.3	-	50	6734	c.6668T>G	c.(6667-6669)cTg>cGg	p.L2223R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2223	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.L2223R(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCGGGGGCCCAGGGGGCTCCG	0.706																																						ENST00000252999.3																			1	Substitution - Missense(1)	p.L2223R(1)	kidney(1)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6667-6669)cTg>cGg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895706A>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6668T>G	20.37:g.60895706A>C	ENSP00000252999:p.Leu2223Arg						p.L2223R	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		50	6734	-	Breast(26;1.57e-08)		2223			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6668T>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	1.825	-0.471240	0.04445	.	.	ENSG00000130702	ENST00000252999	T	0.10860	2.83	4.01	-3.35	0.04928	Laminin I (1);	1.233460	0.05846	U	0.620293	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.43278	-0.9401	10	0.13470	T	0.59	.	6.2822	0.21013	0.5127:0.1317:0.3557:0.0	.	2223	O15230	LAMA5_HUMAN	R	2223	ENSP00000252999:L2223R	ENSP00000252999:L2223R	L	-	2	0	LAMA5	60329101	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-2.320000	0.01119	-0.781000	0.04548	-0.402000	0.06365	CTG		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		5	15	0	0	0	1	0	5	15				
HTATSF1	27336	broad.mit.edu	37	X	135593930	135593930	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chrX:135593930T>A	ENST00000218364.4	+	9	2200	c.2026T>A	c.(2026-2028)Tca>Aca	p.S676T	HTATSF1_ENST00000535601.1_Missense_Mutation_p.S676T	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	676	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S676A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTGAAGAGTCAGATGACAA	0.403																																						ENST00000535601.1																			1	Substitution - Missense(1)	p.S676A(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(2026-2028)Tca>Aca		HIV-1 Tat specific factor 1							205.0	177.0	187.0					X																	135593930		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593930T>A	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2026T>A	X.37:g.135593930T>A	ENSP00000218364:p.Ser676Thr					HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676T	p.S676T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	2448	+	Acute lymphoblastic leukemia(192;0.000127)		676			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.2026T>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	8.952	0.968430	0.18659	.	.	ENSG00000102241	ENST00000535601;ENST00000218364	T;T	0.05855	3.38;3.38	3.85	3.85	0.44370	.	0.184974	0.26594	N	0.023505	T	0.07413	0.0187	N	0.19112	0.55	0.25653	N	0.986079	D	0.61697	0.99	P	0.54759	0.76	T	0.15464	-1.0436	10	0.66056	D	0.02	-2.1924	5.1082	0.14794	0.0:0.1305:0.0:0.8695	.	676	O43719	HTSF1_HUMAN	T	676	ENSP00000442699:S676T;ENSP00000218364:S676T	ENSP00000218364:S676T	S	+	1	0	HTATSF1	135421596	0.001000	0.12720	0.444000	0.26895	0.289000	0.27227	0.575000	0.23729	1.745000	0.51790	0.425000	0.28330	TCA		0.403	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		8	82	0	0	0	1	0	8	82				
IBSP	3381	broad.mit.edu	37	4	88732928	88732928	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr4:88732928G>C	ENST00000226284.5	+	7	887	c.820G>C	c.(820-822)Gga>Cga	p.G274R		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	274					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ATACGACAATGGATATGAAAT	0.473																																						ENST00000226284.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(820-822)Gga>Cga		integrin-binding sialoprotein							66.0	63.0	64.0					4																	88732928		2203	4300	6503	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88732928G>C		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.820G>C	4.37:g.88732928G>C	ENSP00000226284:p.Gly274Arg						p.G274R	NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	7	887	+		Hepatocellular(203;0.114)	274						Missense_Mutation	SNP	ENST00000226284.5	37	c.820G>C	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043564	0.75732	.	.	ENSG00000029559	ENST00000226284	T	0.12361	2.69	5.36	5.36	0.76844	.	0.507607	0.19563	N	0.111283	T	0.35653	0.0939	M	0.72894	2.215	0.09310	N	1	D	0.58620	0.983	P	0.61201	0.885	T	0.10520	-1.0626	10	0.72032	D	0.01	.	16.8805	0.86061	0.0:0.0:1.0:0.0	.	274	P21815	SIAL_HUMAN	R	274	ENSP00000226284:G274R	ENSP00000226284:G274R	G	+	1	0	IBSP	88951952	0.788000	0.28762	0.120000	0.21714	0.986000	0.74619	4.348000	0.59379	2.507000	0.84556	0.591000	0.81541	GGA		0.473	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			8	70	0	0	0	1	0	8	70				
HIST1H2AI	8329	broad.mit.edu	37	6	27775992	27775992	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:27775992C>T	ENST00000358739.3	+	1	94	c.5C>T	c.(4-6)tCt>tTt	p.S2F	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	2						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						TTTGCCATGTCTGGGCGTGGC	0.542																																						ENST00000358739.3																			0				lung(3)	3						c.(4-6)tCt>tTt		histone cluster 1, H2ai							65.0	76.0	72.0					6																	27775992		2202	4300	6502	SO:0001583	missense	8329							g.chr6:27775992C>T	Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.5C>T	6.37:g.27775992C>T	ENSP00000351589:p.Ser2Phe						p.S2F	NM_003509.2	NP_003500.1					1	94	+								P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000358739.3	37	c.5C>T	CCDS4626.1	.	.	.	.	.	.	.	.	.	.	.	6.829	0.522045	0.13005	.	.	ENSG00000196747	ENST00000358739	D	0.92965	-3.14	4.34	4.34	0.51931	.	0.000000	0.39834	N	0.001245	D	0.92456	0.7605	.	.	.	0.29987	N	0.817246	.	.	.	.	.	.	D	0.89966	0.4090	7	0.87932	D	0	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	.	.	.	F	2	ENSP00000351589:S2F	ENSP00000351589:S2F	S	+	2	0	HIST1H2AI	27883971	0.983000	0.35010	0.941000	0.38009	0.060000	0.15804	2.569000	0.45973	2.351000	0.79841	0.549000	0.68633	TCT		0.542	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040152.1	NM_003509		108	77	0	0	0	1	0	108	77				
GPR115	221393	broad.mit.edu	37	6	47682838	47682838	+	Silent	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:47682838T>A	ENST00000283303.2	+	6	2115	c.1857T>A	c.(1855-1857)ggT>ggA	p.G619G	GPR115_ENST00000371220.1_Silent_p.G676G|GPR115_ENST00000327753.3_Silent_p.G619G|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	619					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGACCTGGGGTTTTGGAATAG	0.463																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1855-1857)ggT>ggA		G protein-coupled receptor 115							94.0	86.0	89.0					6																	47682838		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682838T>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1857T>A	6.37:g.47682838T>A						GPR115_ENST00000371220.1_Silent_p.G676G|GPR115_ENST00000327753.3_Silent_p.G619G	p.G619G	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	2115	+			619					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.1857T>A	CCDS4922.2																																																																																				0.463	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		6	167	0	0	0	1	0	6	167				
EIF3A	8661	broad.mit.edu	37	10	120809388	120809388	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:120809388C>T	ENST00000369144.3	-	17	2710	c.2583G>A	c.(2581-2583)agG>agA	p.R861R	EIF3A_ENST00000541549.1_Silent_p.R827R	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTTCCAACTCCCTTTGGCGTT	0.458																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(2581-2583)agG>agA		eukaryotic translation initiation factor 3, subunit A							205.0	201.0	202.0					10																	120809388		2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120809388C>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2583G>A	10.37:g.120809388C>T						EIF3A_ENST00000541549.1_Silent_p.R827R|EIF3A_ENST00000478852.1_Intron	p.R861R	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	17	2710	-		Lung NSC(174;0.094)|all_lung(145;0.123)	861			Glu-rich.		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.2583G>A	CCDS7608.1																																																																																				0.458	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		84	159	0	0	0	1	0	84	159				
CNOT2	4848	broad.mit.edu	37	12	70713123	70713123	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr12:70713123G>A	ENST00000418359.3	+	5	668	c.217G>A	c.(217-219)Gca>Aca	p.A73T	CNOT2_ENST00000229195.3_Missense_Mutation_p.A73T	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	73					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCAGTTTGGGGCAAGTTTATA	0.338																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(217-219)Gca>Aca		CCR4-NOT transcription complex, subunit 2							119.0	119.0	119.0					12																	70713123		2203	4299	6502	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70713123G>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.217G>A	12.37:g.70713123G>A	ENSP00000412091:p.Ala73Thr					CNOT2_ENST00000418359.3_Missense_Mutation_p.A73T	p.A73T	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		4	796	+	Renal(347;0.236)		73					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.217G>A	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	34	5.316942	0.95682	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000551132;ENST00000552915;ENST00000552483;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000547867;ENST00000550194	T;T;T;T	0.47869	0.83;0.83;0.85;0.83	5.29	5.29	0.74685	.	0.049177	0.85682	D	0.000000	T	0.41465	0.1160	L	0.32530	0.975	0.80722	D	1	P	0.37466	0.596	B	0.35353	0.201	T	0.43360	-0.9396	10	0.62326	D	0.03	-8.2307	19.2926	0.94108	0.0:0.0:1.0:0.0	.	73	Q9NZN8	CNOT2_HUMAN	T	73;73;73;73;53;73;64;53;64;73;73;64;73	ENSP00000229195:A73T;ENSP00000412091:A73T;ENSP00000449659:A64T;ENSP00000449260:A73T	ENSP00000229195:A73T	A	+	1	0	CNOT2	68999390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.631000	0.89168	0.460000	0.39030	GCA		0.338	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			15	50	0	0	0	1	0	15	50				
PSG6	5675	broad.mit.edu	37	19	43420415	43420415	+	Nonsense_Mutation	SNP	G	G	A	rs112289603	byFrequency	TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:43420415G>A	ENST00000292125.2	-	2	333	c.289C>T	c.(289-291)Cga>Tga	p.R97*	PSG6_ENST00000601833.1_Nonsense_Mutation_p.R26*|PSG6_ENST00000187910.2_Nonsense_Mutation_p.R97*|PSG6_ENST00000402603.4_Nonsense_Mutation_p.R97*	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	97	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTGTTTCTCGTCCACTGTAG	0.458													.|||	2	0.000399361	0.0	0.0	5008	,	,		21823	0.0		0.001	False		,,,				2504	0.001					ENST00000601833.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(76-78)Cga>Tga		pregnancy specific beta-1-glycoprotein 6		G	stop/ARG,stop/ARG	2,4400		0,2,2199	368.0	332.0	344.0		289,289	-0.7	0.0	19	dbSNP_132	344	10,8588		0,10,4289	yes	stop-gained,stop-gained	PSG6	NM_001031850.2,NM_002782.3	,	0,12,6488	AA,AG,GG		0.1163,0.0454,0.0923	,	97/425,97/436	43420415	12,12988	2201	4299	6500	SO:0001587	stop_gained	5675							g.chr19:43420415G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.289C>T	19.37:g.43420415G>A	ENSP00000292125:p.Arg97*					PSG6_ENST00000402603.4_Nonsense_Mutation_p.R97*|PSG6_ENST00000292125.2_Nonsense_Mutation_p.R97*|PSG6_ENST00000187910.2_Nonsense_Mutation_p.R97*	p.R26*							2	1359	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Nonsense_Mutation	SNP	ENST00000292125.2	37	c.76C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	15.01	2.705594	0.48412	4.54E-4	0.001163	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	.	.	.	2.24	-0.665	0.11403	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6232	0.22814	0.0:0.0:0.4745:0.5255	.	.	.	.	X	97	.	ENSP00000187910:R97X	R	-	1	2	PSG6	48112255	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.184000	0.09698	-0.242000	0.09667	0.194000	0.17425	CGA		0.458	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		28	465	0	0	0	1	0	28	465				
MASP1	5648	broad.mit.edu	37	3	186978640	186978640	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:186978640T>A	ENST00000337774.5	-	4	825	c.436A>T	c.(436-438)Agg>Tgg	p.R146W	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.R146W|MASP1_ENST00000392472.2_Missense_Mutation_p.R33W|MASP1_ENST00000392470.2_Missense_Mutation_p.R120W|MASP1_ENST00000296280.6_Missense_Mutation_p.R146W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	146	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCGTCCTCCCTCTCCTTGCAC	0.507																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(436-438)Agg>Tgg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							182.0	132.0	149.0					3																	186978640		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186978640T>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.436A>T	3.37:g.186978640T>A	ENSP00000336792:p.Arg146Trp					MASP1_ENST00000392470.2_Missense_Mutation_p.R120W|MASP1_ENST00000169293.6_Missense_Mutation_p.R146W|MASP1_ENST00000392472.2_Missense_Mutation_p.R33W|MASP1_ENST00000296280.6_Missense_Mutation_p.R146W|MASP1_ENST00000495249.1_Intron	p.R146W	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	4	825	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		146			EGF-like; calcium-binding.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.436A>T	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.375257	0.61735	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470;ENST00000392475	D;D;D;D;D;T	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;0.26	5.57	0.216	0.15258	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.157868	0.52532	D	0.000076	D	0.89708	0.6793	N	0.10945	0.07	0.28421	N	0.917727	D;D;D;D;B	0.67145	0.983;0.991;0.996;0.983;0.142	P;P;D;P;B	0.66196	0.87;0.818;0.942;0.753;0.216	D	0.85891	0.1428	10	0.56958	D	0.05	.	14.2257	0.65858	0.0:0.0:0.3171:0.6829	.	120;146;33;146;146	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	W	146;146;33;33;146;120;153	ENSP00000336792:R146W;ENSP00000296280:R146W;ENSP00000376264:R33W;ENSP00000169293:R146W;ENSP00000376262:R120W;ENSP00000376267:R153W	ENSP00000169293:R146W	R	-	1	2	MASP1	188461334	0.024000	0.19004	0.852000	0.33557	0.615000	0.37417	1.946000	0.40283	0.226000	0.20979	0.528000	0.53228	AGG		0.507	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		138	58	0	0	0	1	0	138	58				
C1orf159	54991	broad.mit.edu	37	1	1021358	1021358	+	Silent	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:1021358G>A	ENST00000379339.1	-	9	663	c.453C>T	c.(451-453)ggC>ggT	p.G151G	C1orf159_ENST00000379319.1_Silent_p.G115G|C1orf159_ENST00000437760.1_Silent_p.G115G|C1orf159_ENST00000379320.1_Silent_p.G115G|C1orf159_ENST00000421241.2_Silent_p.G115G|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000448924.1_Silent_p.G151G|C1orf159_ENST00000294576.5_Silent_p.G115G			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	151						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGAAGAACGTGCCCAGGAAGA	0.637																																						ENST00000448924.1																			0											c.(451-453)ggC>ggT		chromosome 1 open reading frame 159							62.0	62.0	62.0					1																	1021358		2203	4300	6503	SO:0001819	synonymous_variant	54991					integral to membrane		g.chr1:1021358G>A	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.453C>T	1.37:g.1021358G>A						C1orf159_ENST00000437760.1_Silent_p.G115G|C1orf159_ENST00000421241.2_Silent_p.G115G|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Silent_p.G115G|C1orf159_ENST00000379319.1_Silent_p.G115G|C1orf159_ENST00000379320.1_Silent_p.G115G|C1orf159_ENST00000379339.1_Silent_p.G151G	p.G151G			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	8	884	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	151					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Silent	SNP	ENST00000379339.1	37	c.453C>T																																																																																					0.637	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		5	30	0	0	0	1	0	5	30				
TTN	7273	broad.mit.edu	37	2	179558368	179558368	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:179558368G>A	ENST00000591111.1	-	117	30835	c.30611C>T	c.(30610-30612)gCc>gTc	p.A10204V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A10521V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A9277V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGAAATGGCAACGTGAAT	0.308																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(31561-31563)gCc>gTc		titin							61.0	63.0	62.0					2																	179558368		1793	4065	5858	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179558368G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30611C>T	2.37:g.179558368G>A	ENSP00000465570:p.Ala10204Val					TTN_ENST00000342992.6_Missense_Mutation_p.A9277V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A10204V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron	p.A10521V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		119	31786	-			10204			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.31562C>T		.	.	.	.	.	.	.	.	.	.	G	14.38	2.519248	0.44866	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.65916	-0.18	5.85	5.85	0.93711	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57917	0.2086	L	0.29908	0.895	0.80722	D	1	P;D	0.56521	0.458;0.976	B;P	0.49085	0.19;0.6	T	0.62110	-0.6923	9	0.87932	D	0	.	12.6125	0.56558	0.0:0.0:0.8346:0.1654	.	10204;10204	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	V	9277;399;31	ENSP00000343764:A9277V	ENSP00000343764:A9277V	A	-	2	0	TTN	179266613	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.948000	0.56660	2.773000	0.95371	0.650000	0.86243	GCC		0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	1	0	0	0	1	0	15	1				
DZIP3	9666	broad.mit.edu	37	3	108373054	108373054	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:108373054G>A	ENST00000361582.3	+	19	2326	c.2096G>A	c.(2095-2097)aGt>aAt	p.S699N	DZIP3_ENST00000463306.1_Missense_Mutation_p.S699N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	699					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CACTCAGTCAGTAGACTTATA	0.388																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2095-2097)aGt>aAt		DAZ interacting zinc finger protein 3							162.0	143.0	149.0					3																	108373054		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108373054G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2096G>A	3.37:g.108373054G>A	ENSP00000355028:p.Ser699Asn					DZIP3_ENST00000463306.1_Missense_Mutation_p.S699N	p.S699N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			19	2326	+			699					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2096G>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	6.459	0.452879	0.12283	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.31247	1.5;1.5	4.57	1.54	0.23209	.	0.369646	0.23429	N	0.048267	T	0.18045	0.0433	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.15809	-1.0424	10	0.23891	T	0.37	0.3283	5.4661	0.16644	0.3688:0.0:0.6312:0.0	.	317;699	D3DN61;Q86Y13	.;DZIP3_HUMAN	N	699	ENSP00000355028:S699N;ENSP00000419981:S699N	ENSP00000355028:S699N	S	+	2	0	DZIP3	109855744	0.000000	0.05858	0.004000	0.12327	0.160000	0.22226	0.125000	0.15749	0.550000	0.28991	0.585000	0.79938	AGT		0.388	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		52	65	0	0	0	1	0	52	65				
STS	412	broad.mit.edu	37	X	7252104	7252104	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chrX:7252104A>G	ENST00000217961.4	+	9	1554	c.1334A>G	c.(1333-1335)tAc>tGc	p.Y445C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	445					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CTCTTCCATTACTGCAACGCC	0.507									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1333-1335)tAc>tGc		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						142.0	114.0	123.0					X																	7252104		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7252104A>G	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1334A>G	X.37:g.7252104A>G	ENSP00000217961:p.Tyr445Cys						p.Y445C	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			9	1554	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	445					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1334A>G	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673765	0.67928	.	.	ENSG00000101846	ENST00000217961	D	0.95001	-3.58	3.95	3.95	0.45737	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	H	0.94964	3.605	0.49130	D	0.999755	D	0.89917	1.0	D	0.97110	1.0	D	0.97730	1.0202	10	0.87932	D	0	.	10.1826	0.42977	1.0:0.0:0.0:0.0	.	445	P08842	STS_HUMAN	C	445	ENSP00000217961:Y445C	ENSP00000217961:Y445C	Y	+	2	0	STS	7262104	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.241000	0.78201	1.284000	0.44531	0.417000	0.27973	TAC		0.507	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		41	12	0	0	0	1	0	41	12				
MUC16	94025	broad.mit.edu	37	19	9060646	9060646	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:9060646G>T	ENST00000397910.4	-	3	27003	c.26800C>A	c.(26800-26802)Ctt>Att	p.L8934I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8936	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTCTGAAAGCTGAATTGCC	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26800-26802)Ctt>Att		mucin 16, cell surface associated							182.0	171.0	174.0					19																	9060646		2041	4210	6251	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060646G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26800C>A	19.37:g.9060646G>T	ENSP00000381008:p.Leu8934Ile						p.L8934I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27003	-			8936			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26800C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.743	-0.491130	0.04322	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	2.35	-4.7	0.03288	.	.	.	.	.	T	0.08313	0.0207	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.11329	0.006	T	0.27020	-1.0086	8	0.87932	D	0	.	2.3661	0.04319	0.1969:0.3834:0.2923:0.1274	.	8934	B5ME49	.	I	8934	ENSP00000381008:L8934I	ENSP00000381008:L8934I	L	-	1	0	MUC16	8921646	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.775000	0.04679	-2.612000	0.00445	-0.725000	0.03595	CTT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		118	261	1	0	3.26844e-40	1	4.12958e-40	118	261				
KALRN	8997	broad.mit.edu	37	3	124103805	124103805	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:124103805C>T	ENST00000240874.3	+	11	2035	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	KALRN_ENST00000360013.3_Silent_p.I626I|KALRN_ENST00000460856.1_Silent_p.I626I	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	626					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGTGCGCATCCAAGACTTCG	0.572																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1876-1878)atC>atT		kalirin, RhoGEF kinase							104.0	86.0	92.0					3																	124103805		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103805C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1878C>T	3.37:g.124103805C>T						KALRN_ENST00000240874.3_Silent_p.I626I|KALRN_ENST00000460856.1_Silent_p.I626I	p.I626I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			11	2005	+			626					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	c.1878C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537576	0.27475	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.22	4.33	0.51752	.	.	.	.	.	T	0.56171	0.1967	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53711	-0.8400	4	.	.	.	.	6.5623	0.22493	0.1791:0.708:0.0:0.1129	.	.	.	.	F	604	.	.	S	+	2	0	KALRN	125586495	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.315000	0.19451	1.378000	0.46305	0.563000	0.77884	TCC		0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		54	75	0	0	0	1	0	54	75				
NRXN2	9379	broad.mit.edu	37	11	64434817	64434817	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:64434817T>A	ENST00000377551.1	-	8	1914	c.1703A>T	c.(1702-1704)gAc>gTc	p.D568V	NRXN2_ENST00000377559.3_Missense_Mutation_p.D537V|NRXN2_ENST00000265459.6_Missense_Mutation_p.D568V|NRXN2_ENST00000409571.1_Missense_Mutation_p.D561V			Q9P2S2	NRX2A_HUMAN	neurexin 2	568	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGATCCCATGTCCAGCAGAAG	0.627																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(1702-1704)gAc>gTc		neurexin 2							96.0	91.0	92.0					11																	64434817		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64434817T>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1703A>T	11.37:g.64434817T>A	ENSP00000366774:p.Asp568Val					NRXN2_ENST00000377559.3_Missense_Mutation_p.D537V|NRXN2_ENST00000377551.1_Missense_Mutation_p.D568V|NRXN2_ENST00000409571.1_Missense_Mutation_p.D561V	p.D568V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			9	2164	-			568			Laminin G-like 3.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1703A>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363880	0.82353	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.44097	U	0.000496	D	0.91723	0.7383	H	0.94698	3.57	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.852	D;D;P	0.97110	1.0;0.998;0.831	D	0.93416	0.6773	10	0.87932	D	0	.	12.0197	0.53336	0.0:0.0:0.0:1.0	.	537;568;314	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	568;537;568;537;561	ENSP00000366774:D568V;ENSP00000366782:D537V;ENSP00000265459:D568V;ENSP00000386416:D561V	ENSP00000265459:D568V	D	-	2	0	NRXN2	64191393	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.132000	0.71676	1.936000	0.56123	0.379000	0.24179	GAC		0.627	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		27	85	0	0	0	1	0	27	85				
PCLO	27445	broad.mit.edu	37	7	82585100	82585100	+	Silent	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:82585100G>A	ENST00000333891.9	-	5	5506	c.5169C>T	c.(5167-5169)tcC>tcT	p.S1723S	PCLO_ENST00000423517.2_Silent_p.S1723S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGTGAAGCTGGAAGCATGCA	0.478																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5167-5169)tcC>tcT		piccolo presynaptic cytomatrix protein							112.0	107.0	109.0					7																	82585100		1994	4182	6176	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585100G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5169C>T	7.37:g.82585100G>A						PCLO_ENST00000333891.8_Silent_p.S1723S	p.S1723S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	5506	-			1654						Silent	SNP	ENST00000333891.9	37	c.5169C>T	CCDS47630.1																																																																																				0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		51	39	0	0	0	1	0	51	39				
SKA3	221150	broad.mit.edu	37	13	21732143	21732143	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr13:21732143G>A	ENST00000314759.5	-	7	1161	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	SKA3_ENST00000400018.3_Missense_Mutation_p.S346L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	346					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AATCGTAGGTGAAGAGGGATC	0.358																																						ENST00000314759.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1036-1038)tCa>tTa		spindle and kinetochore associated complex subunit 3							124.0	133.0	130.0					13																	21732143		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21732143G>A	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1037C>T	13.37:g.21732143G>A	ENSP00000319417:p.Ser346Leu					SKA3_ENST00000400018.3_Missense_Mutation_p.S346L	p.S346L	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			7	1161	-			346					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.1037C>T	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204025	0.38905	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.26067	1.76;1.77	5.76	4.9	0.64082	.	0.426434	0.26450	N	0.024310	T	0.26846	0.0657	L	0.57536	1.79	0.31220	N	0.697574	P;P	0.34639	0.461;0.461	B;B	0.34873	0.191;0.191	T	0.27054	-1.0085	10	0.45353	T	0.12	-19.3101	12.2737	0.54721	0.081:0.0:0.919:0.0	.	346;346	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	L	346	ENSP00000319417:S346L;ENSP00000382896:S346L	ENSP00000319417:S346L	S	-	2	0	SKA3	20630143	1.000000	0.71417	0.265000	0.24526	0.186000	0.23388	2.564000	0.45931	2.720000	0.93068	0.591000	0.81541	TCA		0.358	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		29	82	0	0	0	1	0	29	82				
MAD1L1	8379	broad.mit.edu	37	7	2275060	2275060	+	5'Flank	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:2275060C>T	ENST00000406869.1	-	0	0				FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000242257.8_Silent_p.R146R|MAD1L1_ENST00000402746.1_5'Flank|MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000407040.1_Silent_p.R52R|MAD1L1_ENST00000265854.7_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CATCTGCTCTCCTGCCAGGAA	0.567																																						ENST00000242257.8																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(436-438)agG>agA		FtsJ RNA methyltransferase homolog 2 (E. coli)							87.0	82.0	84.0					7																	2275060		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2275060C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275060C>T	Exception_encountered					FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Silent_p.R52R	p.R146R	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	466	-		Ovarian(82;0.0253)	146					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.438G>A	CCDS43539.1																																																																																				0.567	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		60	58	0	0	0	1	0	60	58				
TOMM40L	84134	broad.mit.edu	37	1	161197105	161197105	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:161197105G>T	ENST00000367988.3	+	4	510	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	TOMM40L_ENST00000545897.1_Missense_Mutation_p.A81S|TOMM40L_ENST00000367987.1_Missense_Mutation_p.A81S|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_Intron	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	81					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTCCATGCGGCCTATGCAGG	0.567											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367988.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(241-243)Gcc>Tcc		translocase of outer mitochondrial membrane 40 homolog (yeast)-like							75.0	70.0	72.0					1																	161197105		2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161197105G>T		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.241G>T	1.37:g.161197105G>T	ENSP00000356967:p.Ala81Ser		OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	TOMM40L_ENST00000545897.1_Missense_Mutation_p.A81S|TOMM40L_ENST00000367987.1_Missense_Mutation_p.A81S|TOMM40L_ENST00000474486.1_Intron	p.A81S	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	510	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		81					B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.241G>T	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361881	0.61403	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.41065	1.01;1.01;1.01	5.22	5.22	0.72569	.	0.174270	0.51477	D	0.000082	T	0.12008	0.0292	N	0.19112	0.55	0.26497	N	0.974843	B;B	0.14012	0.009;0.009	B;B	0.20384	0.029;0.029	T	0.11665	-1.0578	9	0.15066	T	0.55	-14.9366	9.8267	0.40916	0.0932:0.0:0.9068:0.0	.	81;81	B7Z4U0;Q969M1	.;TM40L_HUMAN	S	81;81;28;81	ENSP00000356967:A81S;ENSP00000443233:A81S;ENSP00000356966:A81S	ENSP00000356966:A81S	A	+	1	0	TOMM40L	159463729	0.998000	0.40836	0.961000	0.40146	0.999000	0.98932	5.339000	0.65953	2.427000	0.82271	0.655000	0.94253	GCC		0.567	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		29	53	1	0	9.65021e-13	1	1.10065e-12	29	53				
FAM208B	54906	broad.mit.edu	37	10	5788805	5788805	+	Silent	SNP	T	T	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr10:5788805T>C	ENST00000328090.5	+	15	4046	c.3421T>C	c.(3421-3423)Tta>Cta	p.L1141L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1141																	AGTGTGTTCATTACAGAAGGA	0.463																																						ENST00000328090.5																			0											c.(3421-3423)Tta>Cta		family with sequence similarity 208, member B							122.0	121.0	121.0					10																	5788805		1945	4137	6082	SO:0001819	synonymous_variant	54906							g.chr10:5788805T>C	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3421T>C	10.37:g.5788805T>C							p.L1141L	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	4046	+			1141					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3421T>C	CCDS41485.1																																																																																				0.463	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		61	99	0	0	0	1	0	61	99				
SUPT16H	11198	broad.mit.edu	37	14	21829342	21829342	+	Silent	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr14:21829342G>T	ENST00000216297.2	-	16	2162	c.1824C>A	c.(1822-1824)ccC>ccA	p.P608P		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	608					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTGTTCTCCGGGTGCCTTAA	0.378																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1822-1824)ccC>ccA		suppressor of Ty 16 homolog (S. cerevisiae)							111.0	110.0	110.0					14																	21829342		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829342G>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1824C>A	14.37:g.21829342G>T							p.P608P	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	16	2162	-	all_cancers(95;0.00115)		608					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.1824C>A	CCDS9569.1																																																																																				0.378	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			74	34	1	0	7.25294e-45	1	9.2191e-45	74	34				
H3F3B	3021	broad.mit.edu	37	17	73775146	73775146	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:73775146T>A	ENST00000254810.4	-	2	242	c.110A>T	c.(109-111)aAg>aTg	p.K37M	H3F3B_ENST00000592643.1_Missense_Mutation_p.K37M|H3F3B_ENST00000587560.1_Missense_Mutation_p.K37M|H3F3B_ENST00000586607.1_Missense_Mutation_p.K37M|H3F3B_ENST00000589599.1_Missense_Mutation_p.K37M|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000591890.1_Missense_Mutation_p.K37M	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	37					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGAGGCTTCTTCACCCCGCC	0.662											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254810.4																			0				large_intestine(1)|lung(4)|ovary(2)|skin(1)	8						c.(109-111)aAg>aTg		H3 histone, family 3B (H3.3B)							27.0	29.0	28.0					17																	73775146		2202	4300	6502	SO:0001583	missense	3021				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr17:73775146T>A	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.110A>T	17.37:g.73775146T>A	ENSP00000254810:p.Lys37Met		OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1147	H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000592643.1_Missense_Mutation_p.K37M|H3F3B_ENST00000586607.1_Missense_Mutation_p.K37M|H3F3B_ENST00000591890.1_Missense_Mutation_p.K37M|H3F3B_ENST00000589599.1_Missense_Mutation_p.K37M|H3F3B_ENST00000587560.1_Missense_Mutation_p.K37M	p.K37M	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	242	-	all_cancers(13;1.5e-07)		37					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000254810.4	37	c.110A>T	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.128986	0.37533	.	.	ENSG00000132475	ENST00000254810	T	0.56776	0.44	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000012	T	0.78723	0.4328	M	0.93978	3.48	0.52501	D	0.999953	.	.	.	.	.	.	D	0.84968	0.0881	8	0.87932	D	0	.	15.0159	0.71584	0.0:0.0:0.0:1.0	.	.	.	.	M	37	ENSP00000254810:K37M	ENSP00000254810:K37M	K	-	2	0	H3F3B	71286741	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.467000	0.80930	2.132000	0.65825	0.533000	0.62120	AAG		0.662	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448499.1	NM_005324		41	36	0	0	0	1	0	41	36				
SEL1L2	80343	broad.mit.edu	37	20	13894567	13894567	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr20:13894567G>T	ENST00000284951.5	-	5	484	c.410C>A	c.(409-411)gCa>gAa	p.A137E	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A137E			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	137						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CATGTCAGCTGCTTTGGCAAA	0.343																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(409-411)gCa>gAa		sel-1 suppressor of lin-12-like 2 (C. elegans)							65.0	60.0	62.0					20																	13894567		1808	4079	5887	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13894567G>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.410C>A	20.37:g.13894567G>T	ENSP00000284951:p.Ala137Glu					SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A137E	p.A137E			Q5TEA6	SE1L2_HUMAN			5	484	-			137					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.410C>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.720039	0.89205	.	.	ENSG00000101251	ENST00000378072;ENST00000284951;ENST00000473203	T;T;T	0.66460	0.01;0.01;-0.21	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.000000	0.51477	D	0.000084	T	0.73289	0.3568	L	0.27053	0.805	0.51012	D	0.999906	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.74163	-0.3754	10	0.59425	D	0.04	-10.2626	16.3795	0.83443	0.0:0.0:1.0:0.0	.	137;137	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	E	137;137;25	ENSP00000367312:A137E;ENSP00000284951:A137E;ENSP00000420372:A25E	ENSP00000284951:A137E	A	-	2	0	SEL1L2	13842567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.175000	0.65021	2.941000	0.99782	0.655000	0.94253	GCA		0.343	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		31	53	1	0	9.65021e-13	1	1.10065e-12	31	53				
GJA10	84694	broad.mit.edu	37	6	90605608	90605608	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:90605608C>G	ENST00000369352.1	+	1	1421	c.1421C>G	c.(1420-1422)aCt>aGt	p.T474S	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CCTTCAGTCACTGGGCACAGA	0.488																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(1420-1422)aCt>aGt		gap junction protein, alpha 10, 62kDa							142.0	135.0	137.0					6																	90605608		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605608C>G	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1421C>G	6.37:g.90605608C>G	ENSP00000358358:p.Thr474Ser						p.T474S	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1421	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	474					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.1421C>G	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	9.552	1.116178	0.20795	.	.	ENSG00000135355	ENST00000369352	D	0.97772	-4.53	4.81	3.93	0.45458	.	0.944900	0.08782	N	0.894467	D	0.88149	0.6359	N	0.14661	0.345	0.23577	N	0.997376	B	0.13594	0.008	B	0.11329	0.006	T	0.77429	-0.2591	10	0.11182	T	0.66	.	13.3586	0.60642	0.1592:0.8408:0.0:0.0	.	474	Q969M2	CXA10_HUMAN	S	474	ENSP00000358358:T474S	ENSP00000358358:T474S	T	+	2	0	GJA10	90662329	0.099000	0.21834	0.887000	0.34795	0.766000	0.43426	0.575000	0.23729	1.222000	0.43521	0.563000	0.77884	ACT		0.488	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		67	94	0	0	0	1	0	67	94				
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs199623827	byFrequency	TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:12885059C>G	ENST00000535591.1	-	4	1247	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	351					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C351S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532													.|||	21	0.00419329	0.003	0.0072	5008	,	,		19682	0.001		0.0089	False		,,,				2504	0.002					ENST00000535591.1																			1	Substitution - Missense(1)	p.C351S(1)	kidney(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1051-1053)tGc>tCc		PRAME family member 11							36.0	29.0	31.0					1																	12885059		692	1579	2271	SO:0001583	missense	440560							g.chr1:12885059C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1052G>C	1.37:g.12885059C>G	ENSP00000439551:p.Cys351Ser						p.C351S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1247	-			351						Missense_Mutation	SNP	ENST00000535591.1	37	c.1052G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.316351	0.00235	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.06371	3.31;3.31	1.52	1.52	0.23074	.	0.067349	0.64402	N	0.000012	T	0.00608	0.0020	N	0.00003	-3.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.02654	T	1	.	5.7253	0.18010	0.0:0.3438:0.6562:0.0	.	351	O60813	PRA11_HUMAN	S	351;392;351	ENSP00000439551:C351S;ENSP00000391839:C351S	ENSP00000328783:C392S	C	-	2	0	PRAMEF11	12807646	0.578000	0.26717	0.014000	0.15608	0.005000	0.04900	0.846000	0.27682	0.208000	0.20626	-0.483000	0.04790	TGC		0.532	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	155	0	0	0	1	0	4	155				
CDKN2D	1032	broad.mit.edu	37	19	10679283	10679283	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:10679283G>T	ENST00000393599.2	-	1	371	c.47C>A	c.(46-48)gCg>gAg	p.A16E	CDKN2D_ENST00000335766.2_Missense_Mutation_p.A16E|KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000312962.6_5'Flank|KRI1_ENST00000361821.5_5'Flank	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	16					autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GCCCCGGGCCGCCGCCCCACT	0.746																																						ENST00000393599.2																			0				endometrium(3)|lung(2)|ovary(1)	6						c.(46-48)gCg>gAg		cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)							3.0	5.0	4.0					19																	10679283		1772	3564	5336	SO:0001583	missense	1032				anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:10679283G>T		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273		ENST00000393599.2:c.47C>A	19.37:g.10679283G>T	ENSP00000377224:p.Ala16Glu					CDKN2D_ENST00000335766.2_Missense_Mutation_p.A16E	p.A16E	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		1	371	-			16					Q13102|Q6FGE9	Missense_Mutation	SNP	ENST00000393599.2	37	c.47C>A	CCDS12244.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.613303	0.87359	.	.	ENSG00000129355	ENST00000335766;ENST00000393599	T;T	0.73047	-0.71;-0.71	4.11	4.11	0.48088	Ankyrin repeat-containing domain (3);	0.000000	0.85682	U	0.000000	T	0.80628	0.4659	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83287	-0.0035	10	0.87932	D	0	-17.0839	15.0906	0.72192	0.0:0.0:1.0:0.0	.	16	P55273	CDN2D_HUMAN	E	16	ENSP00000337056:A16E;ENSP00000377224:A16E	ENSP00000337056:A16E	A	-	2	0	CDKN2D	10540283	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	8.174000	0.89682	1.827000	0.53221	0.561000	0.74099	GCG		0.746	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1	NM_079421		3	6	1	0	0.00909568	1	0.0093619	3	6				
RFXAP	5994	broad.mit.edu	37	13	37399619	37399619	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr13:37399619G>A	ENST00000255476.2	+	2	789	c.655G>A	c.(655-657)Gat>Aat	p.D219N	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	219	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		ATCTTTTGGGGATCGTCCTGC	0.313																																						ENST00000255476.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(655-657)Gat>Aat		regulatory factor X-associated protein							110.0	111.0	111.0					13																	37399619		2203	4298	6501	SO:0001583	missense	5994					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr13:37399619G>A	Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.655G>A	13.37:g.37399619G>A	ENSP00000255476:p.Asp219Asn					RFXAP_ENST00000472888.1_3'UTR	p.D219N	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)	2	789	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	219			C-terminal domain.		B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	ENST00000255476.2	37	c.655G>A	CCDS9359.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894994	0.91962	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.92	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.63843	1.955	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.78425	-0.2209	9	0.66056	D	0.02	-22.6111	13.9075	0.63845	0.0734:0.0:0.9266:0.0	.	219	O00287	RFXAP_HUMAN	N	219	.	ENSP00000255476:D219N	D	+	1	0	RFXAP	36297619	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	8.489000	0.90461	1.522000	0.49001	0.655000	0.94253	GAT		0.313	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044521.1	NM_000538		25	49	0	0	0	1	0	25	49				
VPS18	57617	broad.mit.edu	37	15	41191868	41191868	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr15:41191868C>T	ENST00000220509.5	+	4	1191	c.852C>T	c.(850-852)ttC>ttT	p.F284F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	284					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCGGGCCTTCGCCTGGATGA	0.637																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(850-852)ttC>ttT		vacuolar protein sorting 18 homolog (S. cerevisiae)							59.0	59.0	59.0					15																	41191868		2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191868C>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.852C>T	15.37:g.41191868C>T						VPS18_ENST00000558474.1_Intron	p.F284F	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1191	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	284					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.852C>T	CCDS10069.1																																																																																				0.637	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			41	116	0	0	0	1	0	41	116				
NAAA	27163	broad.mit.edu	37	4	76841945	76841945	+	Missense_Mutation	SNP	C	C	T	rs561108824		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr4:76841945C>T	ENST00000286733.4	-	7	949	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	NAAA_ENST00000507956.1_Missense_Mutation_p.R283Q|NAAA_ENST00000505594.1_Missense_Mutation_p.R182Q|NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000399497.3_Missense_Mutation_p.R283Q	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	283					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGTCTCAACTCGGAACCACCT	0.443																																						ENST00000286733.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						c.(847-849)cGa>cAa		N-acylethanolamine acid amidase							155.0	156.0	156.0					4																	76841945		1967	4165	6132	SO:0001583	missense	27163				lipid metabolic process	lysosome	hydrolase activity	g.chr4:76841945C>T	M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.848G>A	4.37:g.76841945C>T	ENSP00000286733:p.Arg283Gln					NAAA_ENST00000505594.1_Missense_Mutation_p.R182Q|NAAA_ENST00000399497.3_Missense_Mutation_p.R283Q|NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000507956.1_Missense_Mutation_p.R283Q	p.R283Q	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN			7	949	-			283					Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	c.848G>A	CCDS43239.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969582	0.74246	.	.	ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000505594	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.86	0.833	0.18875	.	0.129144	0.50627	D	0.000112	T	0.76716	0.4026	M	0.65975	2.015	0.26739	N	0.970427	D;D	0.62365	0.97;0.991	P;P	0.51701	0.559;0.677	T	0.67581	-0.5634	10	0.41790	T	0.15	-0.0182	6.09	0.19989	0.5107:0.3477:0.0:0.1417	.	182;283	B4DVL2;Q02083	.;NAAA_HUMAN	Q	283;283;283;182	ENSP00000382420:R283Q;ENSP00000286733:R283Q;ENSP00000427641:R283Q;ENSP00000426977:R182Q	ENSP00000286733:R283Q	R	-	2	0	NAAA	77060969	0.993000	0.37304	0.987000	0.45799	0.987000	0.75469	0.512000	0.22755	0.076000	0.16826	0.650000	0.86243	CGA		0.443	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4			10	113	0	0	0	1	0	10	113				
C1orf159	54991	broad.mit.edu	37	1	1021359	1021359	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:1021359C>A	ENST00000379339.1	-	9	662	c.452G>T	c.(451-453)gGc>gTc	p.G151V	C1orf159_ENST00000379319.1_Missense_Mutation_p.G115V|C1orf159_ENST00000437760.1_Missense_Mutation_p.G115V|C1orf159_ENST00000379320.1_Missense_Mutation_p.G115V|C1orf159_ENST00000421241.2_Missense_Mutation_p.G115V|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000448924.1_Missense_Mutation_p.G151V|C1orf159_ENST00000294576.5_Missense_Mutation_p.G115V			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	151						integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GAAGAACGTGCCCAGGAAGAG	0.637																																						ENST00000448924.1																			0											c.(451-453)gGc>gTc		chromosome 1 open reading frame 159							61.0	61.0	61.0					1																	1021359		2203	4300	6503	SO:0001583	missense	54991					integral to membrane		g.chr1:1021359C>A	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.452G>T	1.37:g.1021359C>A	ENSP00000368644:p.Gly151Val					C1orf159_ENST00000437760.1_Missense_Mutation_p.G115V|C1orf159_ENST00000421241.2_Missense_Mutation_p.G115V|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Missense_Mutation_p.G115V|C1orf159_ENST00000379319.1_Missense_Mutation_p.G115V|C1orf159_ENST00000379320.1_Missense_Mutation_p.G115V|C1orf159_ENST00000379339.1_Missense_Mutation_p.G151V	p.G151V			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	8	883	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	151					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37	c.452G>T		.	.	.	.	.	.	.	.	.	.	C	16.41	3.115838	0.56505	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000421241;ENST00000379320;ENST00000379319;ENST00000434641;ENST00000457999;ENST00000437760	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80955	-0.1151	9	0.87932	D	0	-9.7335	14.9845	0.71336	0.0:1.0:0.0:0.0	.	115;151;115;115;115	Q5T2W7;Q96HA4;Q96HA4-4;Q5T2W9;E9PBW5	.;CA159_HUMAN;.;.;.	V	151;151;115;115;115;115;115;126;115	.	ENSP00000294576:G115V	G	-	2	0	C1orf159	1011222	0.999000	0.42202	0.682000	0.30024	0.049000	0.14656	4.191000	0.58372	2.133000	0.65898	0.436000	0.28706	GGC		0.637	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		5	30	1	0	3.59834e-05	1	3.81532e-05	5	30				
ZNF425	155054	broad.mit.edu	37	7	148801826	148801826	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:148801826C>T	ENST00000378061.2	-	4	1269	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	379					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTCGCTGTGCGTCCTCTGGT	0.567																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1135-1137)acG>acA		zinc finger protein 425							100.0	105.0	103.0					7																	148801826		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801826C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1137G>A	7.37:g.148801826C>T							p.T379T	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1269	-	Melanoma(164;0.15)		379					B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1137G>A	CCDS34773.1																																																																																				0.567	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		10	216	0	0	0	1	0	10	216				
GFOD1	54438	broad.mit.edu	37	6	13365622	13365622	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:13365622C>T	ENST00000379287.3	-	2	1190	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	GFOD1_ENST00000379284.1_Missense_Mutation_p.V73M	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	176						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TAGGTGCCCACGGAGTGCAGG	0.632																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(526-528)Gtg>Atg		glucose-fructose oxidoreductase domain containing 1							80.0	67.0	71.0					6																	13365622		2203	4300	6503	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365622C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.526G>A	6.37:g.13365622C>T	ENSP00000368589:p.Val176Met					GFOD1_ENST00000379284.1_Missense_Mutation_p.V73M	p.V176M	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1190	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	176					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.526G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145848	0.57044	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.39787	1.06;1.06	5.22	5.22	0.72569	Oxidoreductase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	N	0.20881	0.62	0.80722	D	1	D	0.53619	0.961	P	0.49451	0.611	T	0.02950	-1.1090	10	0.36615	T	0.2	-1.9745	17.7688	0.88486	0.0:1.0:0.0:0.0	.	176	Q9NXC2	GFOD1_HUMAN	M	176;73	ENSP00000368589:V176M;ENSP00000368586:V73M	ENSP00000368586:V73M	V	-	1	0	GFOD1	13473601	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.913000	0.69957	2.414000	0.81942	0.557000	0.71058	GTG		0.632	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		33	17	0	0	0	1	0	33	17				
TTN	7273	broad.mit.edu	37	2	179613753	179613753	+	Intron	SNP	A	A	G	rs397517809		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:179613753A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.H4458H|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGATAATTCTATGCTTCACCT	0.343																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13372-13374)caT>caC		titin							69.0	71.0	70.0					2																	179613753		2202	4294	6496	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613753A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4097T>C	2.37:g.179613753A>G						TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.H4458H	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13596	-			586			Ig-like 24.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.13374T>C																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		54	15	0	0	0	1	0	54	15				
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						ENST00000395471.3																			1	Substitution - Missense(1)	p.V116I(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(346-348)Gta>Ata		phosphoserine phosphatase							87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56085002C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile					PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron	p.V116I			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1151	-	Breast(14;0.214)		116					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.346G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		6	420	0	0	0	1	0	6	420				
TMEM107	84314	broad.mit.edu	37	17	8077910	8077910	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:8077910G>A	ENST00000437139.2	-	4	368	c.281C>T	c.(280-282)tCc>tTc	p.S94F	TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000533070.1_Missense_Mutation_p.S100F|SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000316425.5_Missense_Mutation_p.S100F|RP11-599B13.7_ENST00000581248.1_lincRNA	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	94					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						CAGGGCCACGGATGCACTACA	0.507																																						ENST00000316425.5																			0				large_intestine(1)|lung(4)|ovary(1)	6						c.(298-300)tCc>tTc		transmembrane protein 107							209.0	190.0	196.0					17																	8077910		2203	4300	6503	SO:0001583	missense	84314					integral to membrane		g.chr17:8077910G>A	AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.281C>T	17.37:g.8077910G>A	ENSP00000402732:p.Ser94Phe					TMEM107_ENST00000533070.1_Missense_Mutation_p.S100F|TMEM107_ENST00000437139.2_Missense_Mutation_p.S94F|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000449985.2_Intron	p.S100F	NM_032354.3	NP_115730.2	Q6UX40	TM107_HUMAN			4	411	-			94					A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Missense_Mutation	SNP	ENST00000437139.2	37	c.299C>T	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046882	0.93740	.	.	ENSG00000179029	ENST00000437139;ENST00000533070;ENST00000316425	.	.	.	5.92	5.92	0.95590	.	1.228550	0.05595	N	0.575301	T	0.77942	0.4206	L	0.60455	1.87	0.80722	D	1	D;D;D	0.69078	0.967;0.997;0.983	P;P;P	0.61201	0.693;0.885;0.837	T	0.65726	-0.6098	9	0.72032	D	0.01	.	15.8185	0.78624	0.0:0.0:1.0:0.0	.	100;100;94	Q6UX40-3;Q6UX40-4;Q6UX40	.;.;TM107_HUMAN	F	94;100;100	.	ENSP00000314116:S100F	S	-	2	0	TMEM107	8018635	1.000000	0.71417	0.455000	0.27031	0.976000	0.68499	8.081000	0.89511	2.807000	0.96579	0.549000	0.68633	TCC		0.507	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388844.1	NM_032354		108	40	0	0	0	1	0	108	40				
FGF1	2246	broad.mit.edu	37	5	141974875	141974875	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:141974875G>T	ENST00000359370.6	-	4	527	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	FGF1_ENST00000419524.2_Missense_Mutation_p.L150M|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000337706.2_Missense_Mutation_p.L150M|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000378046.1_Missense_Mutation_p.L150M|FGF1_ENST00000407758.1_3'UTR	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	150					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	GAGACTGGCAGGGGGAGAAAC	0.498																																						ENST00000359370.6																			0				large_intestine(1)|lung(2)	3						c.(448-450)Ctg>Atg		fibroblast growth factor 1 (acidic)	Pentosan Polysulfate(DB00686)						77.0	76.0	77.0					5																	141974875		2203	4300	6503	SO:0001583	missense	2246				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding	g.chr5:141974875G>T	X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.448C>A	5.37:g.141974875G>T	ENSP00000352329:p.Leu150Met					FGF1_ENST00000337706.2_Missense_Mutation_p.L150M|FGF1_ENST00000378046.1_Missense_Mutation_p.L150M|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000419524.2_Missense_Mutation_p.L150M|AC005592.2_ENST00000414314.1_RNA|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000360966.5_3'UTR	p.L150M	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	4	527	-		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	150					B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	ENST00000359370.6	37	c.448C>A	CCDS4275.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797979	0.50208	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.87	3.16	0.36331	.	0.108002	0.40818	N	0.001018	T	0.44746	0.1308	N	0.26042	0.785	0.40122	D	0.976613	B;D	0.65815	0.219;0.995	B;D	0.66351	0.224;0.943	T	0.17745	-1.0359	10	0.22706	T	0.39	.	10.805	0.46512	0.2553:0.0:0.7447:0.0	.	149;150	A8K147;P05230	.;FGF1_HUMAN	M	150	ENSP00000352329:L150M;ENSP00000367285:L150M;ENSP00000338548:L150M;ENSP00000404742:L150M;ENSP00000396195:L150M	ENSP00000338548:L150M	L	-	1	2	FGF1	141955059	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.189000	0.50965	0.405000	0.25532	0.650000	0.86243	CTG		0.498	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132735.2	NM_000800		32	11	1	0	8.16721e-17	1	9.73605e-17	32	11				
CMTR1	23070	broad.mit.edu	37	6	37411926	37411926	+	Splice_Site	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:37411926G>A	ENST00000373451.4	+	3	449	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	95	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AGAAGCTTATGGTATGTCAGC	0.438																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.e3+1									124.0	119.0	121.0					6																	37411926		2203	4300	6503	SO:0001630	splice_region_variant	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37411926G>A	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.285+1G>A	6.37:g.37411926G>A							p.M95_splice	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			3	449	+			95			G-patch.		A8K949|Q14670|Q96FJ9	Splice_Site	SNP	ENST00000373451.4	37	c.285_splice	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181271	0.94846	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.40476	1.03;1.03	5.68	5.68	0.88126	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.92738	3.34	0.80722	D	1	D;D	0.76494	0.999;0.96	D;P	0.70227	0.968;0.859	T	0.75895	-0.3156	9	.	.	.	-30.9929	16.9369	0.86205	0.0:0.0:1.0:0.0	.	95;95	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	I	95	ENSP00000362550:M95I;ENSP00000414233:M95I	.	M	+	3	0	FTSJD2	37519904	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.476000	0.90421	2.675000	0.91044	0.484000	0.47621	ATG		0.438	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	Missense_Mutation	98	47	0	0	0	1	0	98	47				
TIAM2	26230	broad.mit.edu	37	6	155578022	155578022	+	Missense_Mutation	SNP	C	C	G	rs201653955		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:155578022C>G	ENST00000461783.3	+	29	6146	c.4873C>G	c.(4873-4875)Ccc>Gcc	p.P1625A	TIAM2_ENST00000529824.2_Missense_Mutation_p.P1654A|TIAM2_ENST00000456144.1_Missense_Mutation_p.P1654A|TIAM2_ENST00000275246.7_Missense_Mutation_p.P550A|TIAM2_ENST00000528391.2_Missense_Mutation_p.P969A|TIAM2_ENST00000456877.2_Missense_Mutation_p.P937A|TIAM2_ENST00000360366.4_Missense_Mutation_p.P1649A|TIAM2_ENST00000367174.2_Missense_Mutation_p.P1001A|TIAM2_ENST00000318981.5_Missense_Mutation_p.P1625A|RP11-477D19.2_ENST00000435295.1_RNA			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1625					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGAGAGCAGCCCAAACTGGT	0.597																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(4873-4875)Ccc>Gcc		T-cell lymphoma invasion and metastasis 2							53.0	53.0	53.0					6																	155578022		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155578022C>G		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4873C>G	6.37:g.155578022C>G	ENSP00000437188:p.Pro1625Ala					TIAM2_ENST00000456144.1_Missense_Mutation_p.P1654A|TIAM2_ENST00000529824.2_Missense_Mutation_p.P1654A|TIAM2_ENST00000367174.2_Missense_Mutation_p.P1001A|TIAM2_ENST00000275246.7_Missense_Mutation_p.P550A|TIAM2_ENST00000318981.5_Missense_Mutation_p.P1625A|TIAM2_ENST00000456877.2_Missense_Mutation_p.P937A|TIAM2_ENST00000528391.2_Missense_Mutation_p.P969A|TIAM2_ENST00000360366.4_Missense_Mutation_p.P1649A	p.P1625A			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	29	6146	+		Ovarian(120;0.196)	1625					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4873C>G	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654944	0.29425	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.11063	3.36;3.23;3.36;3.15;3.31;3.23;3.09;3.13;2.81	5.96	4.2	0.49525	.	0.106889	0.64402	D	0.000003	T	0.06826	0.0174	L	0.49350	1.555	0.40047	D	0.975724	P;P;P;P	0.42078	0.66;0.77;0.77;0.66	B;P;P;B	0.45712	0.2;0.491;0.491;0.186	T	0.25152	-1.0140	10	0.30078	T	0.28	.	11.1685	0.48558	0.0:0.8583:0.0:0.1417	.	969;1654;1649;1625	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	A	1625;1871;1654;1625;1001;1649;1654;937;969;550	ENSP00000437188:P1625A;ENSP00000407746:P1654A;ENSP00000327315:P1625A;ENSP00000356142:P1001A;ENSP00000353528:P1649A;ENSP00000433348:P1654A;ENSP00000407183:P937A;ENSP00000435335:P969A;ENSP00000275246:P550A	ENSP00000275246:P550A	P	+	1	0	TIAM2	155619714	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	2.642000	0.46596	0.868000	0.35678	0.655000	0.94253	CCC		0.597	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		36	37	0	0	0	1	0	36	37				
TSGA10	80705	broad.mit.edu	37	2	99722114	99722114	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:99722114C>G	ENST00000393483.3	-	8	1101	c.257G>C	c.(256-258)tGt>tCt	p.C86S	TSGA10_ENST00000542655.1_Missense_Mutation_p.C86S|TSGA10_ENST00000539964.1_Missense_Mutation_p.C86S|TSGA10_ENST00000355053.4_Missense_Mutation_p.C86S|TSGA10_ENST00000410001.1_Missense_Mutation_p.C86S|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	86					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGGACTCTTACAGCTTTTCAT	0.393																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(256-258)tGt>tCt		testis specific, 10							238.0	226.0	230.0					2																	99722114		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99722114C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.257G>C	2.37:g.99722114C>G	ENSP00000377123:p.Cys86Ser					TSGA10_ENST00000410001.1_Missense_Mutation_p.C86S|TSGA10_ENST00000542655.1_Missense_Mutation_p.C86S|TSGA10_ENST00000539964.1_Missense_Mutation_p.C86S|TSGA10_ENST00000355053.4_Missense_Mutation_p.C86S|TSGA10_ENST00000478090.1_5'UTR	p.C86S	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			8	1101	-			86					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.257G>C	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	5.500	0.277175	0.10403	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.99	4.99	0.66335	.	0.217010	0.33180	N	0.005195	T	0.25494	0.0620	N	0.22421	0.69	0.25150	N	0.990431	B;B	0.25441	0.078;0.126	B;B	0.19666	0.026;0.026	T	0.11591	-1.0581	10	0.09338	T	0.73	-7.5926	12.0071	0.53265	0.0:0.7219:0.2781:0.0	.	86;86	B7Z925;Q9BZW7	.;TSG10_HUMAN	S	86	ENSP00000377123:C86S;ENSP00000386956:C86S;ENSP00000347161:C86S;ENSP00000444419:C86S;ENSP00000386508:C86S;ENSP00000377122:C86S	ENSP00000347161:C86S	C	-	2	0	TSGA10	99088546	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.571000	0.45990	2.601000	0.87937	0.650000	0.86243	TGT		0.393	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		7	235	0	0	0	1	0	7	235				
CLTC	1213	broad.mit.edu	37	17	57746271	57746271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:57746271C>A	ENST00000269122.3	+	14	2536	c.2262C>A	c.(2260-2262)taC>taA	p.Y754*	CLTC_ENST00000393043.1_Nonsense_Mutation_p.Y754*|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	754	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GCAACTGCTACGATCCTGAGC	0.408			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2260-2262)taC>taA		clathrin, heavy chain (Hc)							110.0	112.0	111.0					17																	57746271		2203	4300	6503	SO:0001587	stop_gained	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57746271C>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2262C>A	17.37:g.57746271C>A	ENSP00000269122:p.Tyr754*					CLTC_ENST00000393043.1_Nonsense_Mutation_p.Y754*|CLTC_ENST00000579456.1_Intron	p.Y754*	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			14	2536	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		754			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Nonsense_Mutation	SNP	ENST00000269122.3	37	c.2262C>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	40	8.131943	0.98670	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	.	.	.	5.42	0.172	0.15031	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7667	0.40565	0.0:0.2875:0.0:0.7125	.	.	.	.	X	754	.	ENSP00000269122:Y754X	Y	+	3	2	CLTC	55101053	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	0.492000	0.22435	-0.173000	0.10761	-0.483000	0.04790	TAC		0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		43	80	1	0	2.40228e-13	1	2.78506e-13	43	80				
NCAM1	4684	broad.mit.edu	37	11	113075082	113075082	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:113075082C>T	ENST00000316851.7	+	2	172	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	NCAM1_ENST00000401611.2_Missense_Mutation_p.R67W|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_5'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	68	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AAACCAGCAGCGGATCTCAGT	0.488																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(172-174)Cgg>Tgg		neural cell adhesion molecule 1							64.0	67.0	66.0					11																	113075082		2042	4181	6223	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113075082C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.172C>T	11.37:g.113075082C>T	ENSP00000318472:p.Arg58Trp					NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.R67W|NCAM1_ENST00000533760.1_5'UTR	p.R58W	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	2	172	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	68			Ig-like C2-type 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000316851.7	37	c.172C>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.608295	0.87258	.	.	ENSG00000149294	ENST00000401611;ENST00000316851	T;T	0.47528	0.84;0.84	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.170609	0.53938	D	0.000048	T	0.69824	0.3154	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;D	0.65233	0.827;0.892;0.933	T	0.73164	-0.4069	9	0.72032	D	0.01	-18.8481	19.4483	0.94857	0.0:1.0:0.0:0.0	.	68;68;68	P13591-1;P13591;P13591-3	.;NCAM1_HUMAN;.	W	67;58	ENSP00000384055:R67W;ENSP00000318472:R58W	ENSP00000318472:R58W	R	+	1	2	NCAM1	112580292	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.206000	0.51098	2.673000	0.90976	0.561000	0.74099	CGG		0.488	NCAM1-201	KNOWN	basic	protein_coding	protein_coding		NM_000615		15	16	0	0	0	1	0	15	16				
FGA	2243	broad.mit.edu	37	4	155507514	155507514	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr4:155507514C>A	ENST00000302053.3	-	5	1145	c.1067G>T	c.(1066-1068)aGt>aTt	p.S356I	FGA_ENST00000403106.3_Missense_Mutation_p.S356I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	356					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTTCCGGTACTACCAGGTCT	0.557																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1066-1068)aGt>aTt		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						75.0	79.0	78.0					4																	155507514		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507514C>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1067G>T	4.37:g.155507514C>A	ENSP00000306361:p.Ser356Ile					FGA_ENST00000403106.3_Missense_Mutation_p.S356I	p.S356I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1145	-	all_hematologic(180;0.215)	Renal(120;0.0458)	356					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1067G>T	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554455	0.45487	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.82803	-1.65;-1.65	3.91	2.07	0.26955	.	2.362610	0.01883	N	0.037968	D	0.87553	0.6206	M	0.77313	2.365	0.09310	N	1	D;P	0.60160	0.987;0.697	P;B	0.52217	0.693;0.154	T	0.65705	-0.6103	10	0.87932	D	0	.	5.1326	0.14919	0.0:0.6632:0.2144:0.1224	.	356;356	P02671-2;P02671	.;FIBA_HUMAN	I	356	ENSP00000306361:S356I;ENSP00000385981:S356I	ENSP00000306361:S356I	S	-	2	0	FGA	155726964	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	0.149000	0.16243	0.211000	0.20683	0.557000	0.71058	AGT		0.557	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		62	30	1	0	3.37043e-27	1	4.1833e-27	62	30				
CDH19	28513	broad.mit.edu	37	18	64176456	64176456	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr18:64176456C>A	ENST00000262150.2	-	11	1896	c.1604G>T	c.(1603-1605)aGa>aTa	p.R535I	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1803	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AAAACCAGTTCTATTAGTCAA	0.353																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(1603-1605)aGa>aTa		cadherin 19, type 2							90.0	87.0	88.0					18																	64176456		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64176456C>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1604G>T	18.37:g.64176456C>A	ENSP00000262150:p.Arg535Ile					CDH19_ENST00000540086.1_Intron	p.R535I	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			11	1896	-		Esophageal squamous(42;0.0132)	535			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1604G>T	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120634	0.37436	.	.	ENSG00000071991	ENST00000262150	T	0.52526	0.66	5.06	3.94	0.45596	Cadherin (4);Cadherin-like (1);	0.099815	0.64402	D	0.000002	T	0.61887	0.2383	M	0.92219	3.285	0.47584	D	0.999463	B	0.33964	0.434	B	0.40782	0.34	T	0.70795	-0.4775	10	0.72032	D	0.01	.	11.7157	0.51653	0.0:0.8358:0.0:0.1642	.	535	Q9H159	CAD19_HUMAN	I	535	ENSP00000262150:R535I	ENSP00000262150:R535I	R	-	2	0	CDH19	62327436	0.142000	0.22610	1.000000	0.80357	0.596000	0.36781	1.349000	0.33998	2.513000	0.84729	0.585000	0.79938	AGA		0.353	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		14	51	1	0	0.000151284	1	0.000159605	14	51				
GYG1	2992	broad.mit.edu	37	3	148727132	148727132	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:148727132C>T	ENST00000345003.4	+	5	851	c.551C>T	c.(550-552)cCg>cTg	p.P184L	GYG1_ENST00000296048.6_Missense_Mutation_p.P184L|GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000483267.1_Intron|GYG1_ENST00000484197.1_Missense_Mutation_p.P184L	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	184					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAACACCTGCCGTTTATTTAT	0.378																																						ENST00000345003.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8						c.(550-552)cCg>cTg		glycogenin 1							108.0	114.0	112.0					3																	148727132		2203	4300	6503	SO:0001583	missense	2992				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding	g.chr3:148727132C>T	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.551C>T	3.37:g.148727132C>T	ENSP00000340736:p.Pro184Leu					GYG1_ENST00000484197.1_Missense_Mutation_p.P184L|GYG1_ENST00000483267.1_Intron|GYG1_ENST00000296048.6_Missense_Mutation_p.P184L|GYG1_ENST00000479119.1_3'UTR	p.P184L	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	851	+			184					D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	c.551C>T	CCDS3139.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079764	0.94050	.	.	ENSG00000163754	ENST00000345003;ENST00000296048;ENST00000484197;ENST00000461191	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90167	0.6927	H	0.97023	3.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.93158	0.6555	10	0.87932	D	0	-36.5675	19.4475	0.94854	0.0:1.0:0.0:0.0	.	184;184;184	D3DNH0;P46976-2;P46976	.;.;GLYG_HUMAN	L	184;184;184;180	ENSP00000340736:P184L;ENSP00000296048:P184L;ENSP00000420683:P184L;ENSP00000420247:P180L	ENSP00000296048:P184L	P	+	2	0	GYG1	150209822	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.336000	0.79245	2.583000	0.87209	0.557000	0.71058	CCG		0.378	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		5	345	0	0	0	1	0	5	345				
TRBV11-1	28582	broad.mit.edu	37	7	142223833	142223833	+	RNA	SNP	C	C	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:142223833C>A	ENST00000390367.3	-	0	350									T cell receptor beta variable 11-1																		AAGCTGCTGGCACAGAGATAC	0.532																																						ENST00000390367.3																			0																				73.0	73.0	73.0					7																	142223833		1980	4176	6156			28582							g.chr7:142223833C>A	M33233		7q34	2012-02-07			ENSG00000211720	ENSG00000211720		"""T cell receptors / TRB locus"""	12180	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV111, TCRBV11S1, TCRBV21S1			OTTHUMG00000158505		7.37:g.142223833C>A														0	350	-									RNA	SNP	ENST00000390367.3	37																																																																																						0.532	TRBV11-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351211.1	NG_001333		4	162	1	0	0.0215528	1	0.0218636	4	162				
LOXL2	4017	broad.mit.edu	37	8	23198591	23198591	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr8:23198591G>T	ENST00000389131.3	-	4	1026	c.657C>A	c.(655-657)gaC>gaA	p.D219E	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	219	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCCAGTGCTTGTCACAGATCT	0.557																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(655-657)gaC>gaA		lysyl oxidase-like 2							202.0	159.0	174.0					8																	23198591		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23198591G>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.657C>A	8.37:g.23198591G>T	ENSP00000373783:p.Asp219Glu					RP11-177H13.2_ENST00000519692.1_RNA	p.D219E	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	4	1026	-		Prostate(55;0.0453)|Breast(100;0.143)	219			SRCR 2.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.657C>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014516	0.93404	.	.	ENSG00000134013	ENST00000389131	T	0.64085	-0.08	5.68	5.68	0.88126	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.188833	0.56097	D	0.000039	T	0.80116	0.4564	M	0.88570	2.965	0.41997	D	0.990873	P	0.39250	0.665	P	0.53185	0.72	T	0.82802	-0.0277	10	0.72032	D	0.01	.	16.5119	0.84288	0.0:0.0:1.0:0.0	.	219	Q9Y4K0	LOXL2_HUMAN	E	219	ENSP00000373783:D219E	ENSP00000373783:D219E	D	-	3	2	LOXL2	23254536	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.876000	0.48498	2.670000	0.90874	0.655000	0.94253	GAC		0.557	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			64	130	1	0	5.00936e-31	1	6.25429e-31	64	130				
SYT7	9066	broad.mit.edu	37	11	61295549	61295549	+	Missense_Mutation	SNP	C	C	T	rs382505		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:61295549C>T	ENST00000263846.4	-	5	787	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000540677.1_Missense_Mutation_p.V229M|SYT7_ENST00000539008.1_Missense_Mutation_p.V437M|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M|SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000540831.1_5'UTR	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	154	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.			V -> L (in Ref. 1; AAB92667). {ECO:0000305}.	exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGATCTTCACGGTGAGCGTG	0.612																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(460-462)Gtg>Atg		synaptotagmin VII							77.0	81.0	80.0					11																	61295549		2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61295549C>T	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.460G>A	11.37:g.61295549C>T	ENSP00000263846:p.Val154Met					SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000540677.1_Missense_Mutation_p.V229M|SYT7_ENST00000539008.1_Missense_Mutation_p.V437M|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M	p.V154M	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			5	787	-			154	V -> L (in Ref. 1; AAB92667).		C2 1.		F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.460G>A	CCDS31577.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782594	0.90282	.	.	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.80738	2.16;2.16;2.16;2.16;2.16;2.16;-1.41	4.44	4.44	0.53790	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.984;0.996	D	0.95085	0.8217	10	0.87932	D	0	.	17.949	0.89046	0.0:1.0:0.0:0.0	.	229;154	F5GZU9;O43581	.;SYT7_HUMAN	M	154;229;437;198;362;273;154	ENSP00000263846:V154M;ENSP00000444201:V229M;ENSP00000439694:V437M;ENSP00000444568:V198M;ENSP00000444019:V362M;ENSP00000437720:V273M;ENSP00000443576:V154M	ENSP00000263846:V154M	V	-	1	0	SYT7	61052125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.420000	0.82092	0.561000	0.74099	GTG		0.612	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		27	74	0	0	0	1	0	27	74				
FSCN1	6624	broad.mit.edu	37	7	5643496	5643496	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr7:5643496G>C	ENST00000382361.3	+	4	1228	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H	FSCN1_ENST00000340250.6_Missense_Mutation_p.D351H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	372					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TGGGACAGGGGACTCAGAGCT	0.642																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1114-1116)Gac>Cac		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							51.0	50.0	50.0					7																	5643496		2203	4300	6503	SO:0001583	missense	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5643496G>C	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1114G>C	7.37:g.5643496G>C	ENSP00000371798:p.Asp372His					FSCN1_ENST00000340250.6_Missense_Mutation_p.D351H	p.D372H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	4	1228	+		Ovarian(82;0.0694)	372					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	c.1114G>C	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850517	0.71719	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000444748;ENST00000447103;ENST00000405801;ENST00000535097	T;T	0.47177	0.85;1.44	4.63	3.75	0.43078	Fascin domain (1);Actin cross-linking (1);	0.061993	0.64402	U	0.000006	T	0.54464	0.1860	L	0.49126	1.545	0.45097	D	0.998118	B;P	0.35468	0.431;0.503	P;B	0.49192	0.602;0.354	T	0.57653	-0.7774	10	0.87932	D	0	-4.1009	11.6176	0.51098	0.0873:0.0:0.9127:0.0	.	351;372	B3KTA3;Q16658	.;FSCN1_HUMAN	H	351;372;94;94;94;94	ENSP00000339729:D351H;ENSP00000371798:D372H	ENSP00000339729:D351H	D	+	1	0	FSCN1	5610022	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	9.420000	0.97426	0.934000	0.37316	0.462000	0.41574	GAC		0.642	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		34	38	0	0	0	1	0	34	38				
TCTN1	79600	broad.mit.edu	37	12	111064170	111064170	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr12:111064170C>T	ENST00000551590.1	+	3	501	c.345C>T	c.(343-345)ggC>ggT	p.G115G	TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000397655.3_Silent_p.G115G|TCTN1_ENST00000397659.4_Silent_p.G115G|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000471804.2_Silent_p.G115G|TCTN1_ENST00000550703.2_Silent_p.G115G			Q2MV58	TECT1_HUMAN	tectonic family member 1	115					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ttttCAGGGGCGACAGCCAGT	0.318																																						ENST00000551590.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						c.(343-345)ggC>ggT		tectonic family member 1							43.0	39.0	40.0					12																	111064170		1771	4036	5807	SO:0001819	synonymous_variant	79600				multicellular organismal development	extracellular region		g.chr12:111064170C>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.345C>T	12.37:g.111064170C>T						TCTN1_ENST00000397659.4_Silent_p.G115G|TCTN1_ENST00000397655.3_Silent_p.G115G|TCTN1_ENST00000471804.2_Silent_p.G115G|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000550703.2_Silent_p.G115G|TCTN1_ENST00000377654.3_5'UTR	p.G115G			Q2MV58	TECT1_HUMAN			3	501	+			115					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Silent	SNP	ENST00000551590.1	37	c.345C>T	CCDS41835.1																																																																																				0.318	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		4	5	0	0	0	1	0	4	5				
DLG2	1740	broad.mit.edu	37	11	83810035	83810035	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr11:83810035C>T	ENST00000532653.1	-	5	667	c.365G>A	c.(364-366)gGa>gAa	p.G122E	DLG2_ENST00000524982.1_Missense_Mutation_p.G122E|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.G161E|DLG2_ENST00000543673.1_Missense_Mutation_p.G227E|DLG2_ENST00000418306.2_Missense_Mutation_p.G71E|DLG2_ENST00000330014.6_Missense_Mutation_p.G61E|DLG2_ENST00000398301.2_Missense_Mutation_p.G161E|DLG2_ENST00000376104.2_Missense_Mutation_p.G227E|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000531015.1_Missense_Mutation_p.G89E|DLG2_ENST00000398309.2_Missense_Mutation_p.G122E			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGGTCATCTCCAATGTGGGG	0.423																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(364-366)gGa>gAa		discs, large homolog 2 (Drosophila)							68.0	63.0	65.0					11																	83810035		1909	4120	6029	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83810035C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.365G>A	11.37:g.83810035C>T	ENSP00000435849:p.Gly122Glu					DLG2_ENST00000543673.1_Missense_Mutation_p.G227E|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.G122E|DLG2_ENST00000524982.1_Missense_Mutation_p.G122E|DLG2_ENST00000376104.2_Missense_Mutation_p.G227E|DLG2_ENST00000531015.1_Missense_Mutation_p.G89E|DLG2_ENST00000418306.2_Missense_Mutation_p.G71E|DLG2_ENST00000280241.8_Missense_Mutation_p.G161E|DLG2_ENST00000330014.6_Missense_Mutation_p.G61E|DLG2_ENST00000398301.2_Missense_Mutation_p.G161E|DLG2_ENST00000376106.3_5'UTR	p.G122E	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			5	835	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	122			PDZ 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.365G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.571534	0.86542	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.04	5.04	0.67666	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000003	T	0.23492	0.0568	N	0.05467	-0.045	0.80722	D	1	D;D;P;D;P;D;P;D	0.89917	0.997;1.0;0.924;0.998;0.941;1.0;0.909;0.991	P;D;P;D;P;D;P;P	0.91635	0.867;0.992;0.626;0.942;0.663;0.999;0.79;0.791	T	0.31138	-0.9954	9	.	.	.	.	18.7566	0.91835	0.0:1.0:0.0:0.0	.	89;122;122;61;161;227;122;71	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	E	122;227;71;227;161;61;122;122;227;89;161;39	ENSP00000381355:G122E;ENSP00000365272:G227E;ENSP00000402275:G71E;ENSP00000441994:G227E;ENSP00000280241:G161E;ENSP00000381353:G61E;ENSP00000432894:G122E;ENSP00000435849:G122E;ENSP00000433848:G89E;ENSP00000381346:G161E;ENSP00000381344:G39E	.	G	-	2	0	DLG2	83487683	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.692000	0.68256	2.510000	0.84645	0.561000	0.74099	GGA		0.423	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		4	73	0	0	0	1	0	4	73				
HADHA	3030	broad.mit.edu	37	2	26416519	26416519	+	Silent	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:26416519G>T	ENST00000380649.3	-	17	1941	c.1812C>A	c.(1810-1812)ggC>ggA	p.G604G		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	604					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGACTTTGCCCAGATCTT	0.527																																						ENST00000380649.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30						c.(1810-1812)ggC>ggA		hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	NADH(DB00157)						172.0	163.0	166.0					2																	26416519		2203	4300	6503	SO:0001819	synonymous_variant	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26416519G>T	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1812C>A	2.37:g.26416519G>T							p.G604G	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN			17	1941	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		604					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	c.1812C>A	CCDS1721.1																																																																																				0.527	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		9	359	1	0	1.76689e-08	1	1.96218e-08	9	359				
NDUFV3	4731	broad.mit.edu	37	21	44329071	44329071	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr21:44329071C>T	ENST00000340344.4	+	3	333	c.267C>T	c.(265-267)ctC>ctT	p.L89L	NDUFV3_ENST00000354250.2_Silent_p.L454L|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	89					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		ACCTCAACCTCGAACTCTCAA	0.552																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1360-1362)ctC>ctT		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						285.0	248.0	260.0					21																	44329071		2203	4300	6503	SO:0001819	synonymous_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44329071C>T		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.267C>T	21.37:g.44329071C>T						NDUFV3_ENST00000340344.3_Silent_p.L89L|NDUFV3_ENST00000460259.1_3'UTR	p.L454L	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	4	1431	+			89					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Silent	SNP	ENST00000340344.4	37	c.1362C>T	CCDS33573.1																																																																																				0.552	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			5	153	0	0	0	1	0	5	153				
CCDC155	147872	broad.mit.edu	37	19	49901254	49901254	+	Silent	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:49901254C>T	ENST00000447857.3	+	7	688	c.483C>T	c.(481-483)gaC>gaT	p.D161D		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	161						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCACAGCTGACCTGCTGAGCA	0.612																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(481-483)gaC>gaT		coiled-coil domain containing 155							35.0	36.0	36.0					19																	49901254		2018	4185	6203	SO:0001819	synonymous_variant	147872					integral to membrane	calcium ion binding	g.chr19:49901254C>T		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.483C>T	19.37:g.49901254C>T							p.D161D	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			7	688	+			161					Q96MC3	Silent	SNP	ENST00000447857.3	37	c.483C>T	CCDS46140.1																																																																																				0.612	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		16	10	0	0	0	1	0	16	10				
UACA	55075	broad.mit.edu	37	15	70961531	70961531	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr15:70961531C>T	ENST00000322954.6	-	16	1677	c.1492G>A	c.(1492-1494)Gca>Aca	p.A498T	UACA_ENST00000539319.1_Missense_Mutation_p.A389T|UACA_ENST00000560441.1_Missense_Mutation_p.A483T|UACA_ENST00000379983.2_Missense_Mutation_p.A485T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	498					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCTTTTAATGCATCTTCTAAT	0.378																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(1492-1494)Gca>Aca		uveal autoantigen with coiled-coil domains and ankyrin repeats							232.0	212.0	219.0					15																	70961531		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70961531C>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1492G>A	15.37:g.70961531C>T	ENSP00000314556:p.Ala498Thr					UACA_ENST00000560441.1_Missense_Mutation_p.A483T|UACA_ENST00000379983.2_Missense_Mutation_p.A485T|UACA_ENST00000539319.1_Missense_Mutation_p.A389T	p.A498T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	1677	-			498					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.1492G>A	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827633	0.90955	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.39997	1.05;1.07;1.53	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000017	T	0.67420	0.2891	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.68907	-0.5285	10	0.66056	D	0.02	-16.7706	19.7842	0.96430	0.0:1.0:0.0:0.0	.	389;498;498;485	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	T	498;485;474;389	ENSP00000314556:A498T;ENSP00000369319:A485T;ENSP00000438667:A389T	ENSP00000314556:A498T	A	-	1	0	UACA	68748585	1.000000	0.71417	0.996000	0.52242	0.678000	0.39670	7.202000	0.77856	2.676000	0.91093	0.591000	0.81541	GCA		0.378	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			139	126	0	0	0	1	0	139	126				
CCDC142	84865	broad.mit.edu	37	2	74709145	74709145	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:74709145G>T	ENST00000393965.3	-	1	1216	c.820C>A	c.(820-822)Ctg>Atg	p.L274M	CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.L274M	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	274										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CCTGGTAGCAGATCCCCCTCC	0.697																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(820-822)Ctg>Atg		coiled-coil domain containing 142							21.0	26.0	24.0					2																	74709145		2201	4294	6495	SO:0001583	missense	84865							g.chr2:74709145G>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.820C>A	2.37:g.74709145G>T	ENSP00000377537:p.Leu274Met					CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.L274M	p.L274M	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	1216	-			274					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.820C>A		.	.	.	.	.	.	.	.	.	.	G	17.08	3.298528	0.60195	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.89196	-2.48;-2.48	4.58	4.58	0.56647	.	0.000000	0.51477	D	0.000090	D	0.93184	0.7829	M	0.70595	2.14	0.32200	N	0.577958	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.93287	0.6665	10	0.54805	T	0.06	-10.8808	13.0555	0.58977	0.0:0.0:1.0:0.0	.	274;274;274	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	M	274	ENSP00000377537:L274M;ENSP00000290418:L274M	ENSP00000290418:L274M	L	-	1	2	CCDC142	74562653	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	3.115000	0.50391	2.541000	0.85698	0.561000	0.74099	CTG		0.697	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		15	45	1	0	2.23348e-06	1	2.40441e-06	15	45				
ACTR1B	10120	broad.mit.edu	37	2	98273920	98273920	+	Silent	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:98273920G>A	ENST00000289228.5	-	9	1194	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	326					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CCTTGATTTTGATATCCTTTG	0.582																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(976-978)atC>atT		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							133.0	143.0	140.0					2																	98273920		2203	4300	6503	SO:0001819	synonymous_variant	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98273920G>A	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.978C>T	2.37:g.98273920G>A							p.I326I	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			9	1194	-			326					D3DVH2|Q53SK5|Q9BRB7	Silent	SNP	ENST00000289228.5	37	c.978C>T	CCDS2033.1																																																																																				0.582	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		101	147	0	0	0	1	0	101	147				
SRRM4	84530	broad.mit.edu	37	12	119583391	119583391	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr12:119583391A>G	ENST00000267260.4	+	9	1365	c.977A>G	c.(976-978)aAc>aGc	p.N326S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	326	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AACAGTGGCAACACCTCTGAT	0.627																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(976-978)aAc>aGc		serine/arginine repetitive matrix 4							36.0	45.0	42.0					12																	119583391		2012	4170	6182	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583391A>G	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.977A>G	12.37:g.119583391A>G	ENSP00000267260:p.Asn326Ser						p.N326S	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1365	+			326			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.977A>G	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.017164	0.35606	.	.	ENSG00000139767	ENST00000267260	T	0.26067	1.76	4.98	4.98	0.66077	.	0.195954	0.52532	D	0.000064	T	0.20414	0.0491	L	0.40543	1.245	0.30499	N	0.77058	B	0.18863	0.031	B	0.20184	0.028	T	0.10245	-1.0638	9	.	.	.	-21.5414	10.2449	0.43334	0.9215:0.0:0.0785:0.0	.	326	A7MD48	SRRM4_HUMAN	S	326	ENSP00000267260:N326S	.	N	+	2	0	SRRM4	118067774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.901000	0.63259	1.991000	0.58162	0.533000	0.62120	AAC		0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		13	10	0	0	0	1	0	13	10				
ADAR	103	broad.mit.edu	37	1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642																																						ENST00000292205.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(73-75)gTg>gGg		adenosine deaminase, RNA-specific							42.0	46.0	45.0					1																	154600401		876	1991	2867	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154600401A>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000292205.5:c.74T>G	1.37:g.154600401A>C	ENSP00000292205:p.Val25Gly					ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	p.V25G	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	1	73	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		0					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000292205.5	37	c.74T>G		.	.	.	.	.	.	.	.	.	.	A	12.47	1.946908	0.34377	.	.	ENSG00000160710	ENST00000292205	T	0.13307	2.6	4.03	0.872	0.19113	.	1.108720	0.07140	N	0.847182	T	0.08447	0.0210	.	.	.	0.36170	D	0.848706	.	.	.	.	.	.	T	0.39603	-0.9606	7	0.87932	D	0	-2.0864	3.7143	0.08433	0.2329:0.2072:0.5598:0.0	.	.	.	.	G	25	ENSP00000292205:V25G	ENSP00000292205:V25G	V	-	2	0	ADAR	152867025	0.555000	0.26530	0.954000	0.39281	0.830000	0.47004	-0.015000	0.12634	0.471000	0.27319	-0.386000	0.06593	GTG		0.642	ADAR-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001111		8	48	0	0	0	1	0	8	48				
SMC2	10592	broad.mit.edu	37	9	106876282	106876282	+	Silent	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr9:106876282G>A	ENST00000286398.7	+	12	1740	c.1452G>A	c.(1450-1452)caG>caA	p.Q484Q	SMC2_ENST00000303219.8_Silent_p.Q484Q|SMC2_ENST00000374793.3_Silent_p.Q484Q|SMC2_ENST00000374787.3_Silent_p.Q484Q	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	484					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCGCAGGCAGCTGTCTCGTG	0.348																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1450-1452)caG>caA		structural maintenance of chromosomes 2							113.0	132.0	125.0					9																	106876282		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106876282G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1452G>A	9.37:g.106876282G>A						SMC2_ENST00000303219.8_Silent_p.Q484Q|SMC2_ENST00000374787.3_Silent_p.Q484Q|SMC2_ENST00000374793.3_Silent_p.Q484Q	p.Q484Q	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			12	1740	+			484					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.1452G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	8.252	0.809316	0.16537	.	.	ENSG00000136824	ENST00000536893	.	.	.	5.06	2.26	0.28386	.	.	.	.	.	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50013	-0.8877	5	0.46703	T	0.11	-11.0439	3.5302	0.07774	0.2578:0.0:0.4857:0.2565	.	.	.	.	N	364	.	ENSP00000444272:S364N	S	+	2	0	SMC2	105916103	0.995000	0.38212	0.997000	0.53966	0.986000	0.74619	0.798000	0.27014	0.325000	0.23359	0.555000	0.69702	AGC		0.348	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			10	163	0	0	0	1	0	10	163				
EIF2B5	8893	broad.mit.edu	37	3	183860047	183860047	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr3:183860047C>T	ENST00000273783.3	+	9	1447	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	EIF2B5_ENST00000444495.1_Missense_Mutation_p.T442M	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	442					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.T442M(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCAAATATCACGCTGCCTGAG	0.483																																						ENST00000273783.3																			1	Substitution - Missense(1)	p.T442M(1)	large_intestine(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(1324-1326)aCg>aTg		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							85.0	73.0	77.0					3																	183860047		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183860047C>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1325C>T	3.37:g.183860047C>T	ENSP00000273783:p.Thr442Met					EIF2B5_ENST00000444495.1_Missense_Mutation_p.T442M	p.T442M	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1447	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		442					Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.1325C>T	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	2.489	-0.317967	0.05386	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.97041	-4.22;-4.22	5.61	-2.96	0.05547	Trimeric LpxA-like (1);	1.154270	0.06176	N	0.678460	D	0.95140	0.8425	M	0.81112	2.525	0.09310	N	1	B;B	0.32051	0.172;0.354	B;B	0.19391	0.018;0.025	D	0.86651	0.1898	10	0.44086	T	0.13	.	8.2005	0.31421	0.1416:0.5135:0.0:0.3449	.	442;442	E9PC74;Q13144	.;EI2BE_HUMAN	M	442;442;198	ENSP00000273783:T442M;ENSP00000409142:T442M	ENSP00000273783:T442M	T	+	2	0	EIF2B5	185342741	0.000000	0.05858	0.004000	0.12327	0.072000	0.16883	0.027000	0.13621	-0.708000	0.05015	-1.134000	0.01955	ACG		0.483	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			5	312	0	0	0	1	0	5	312				
CTNND2	1501	broad.mit.edu	37	5	11346520	11346520	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:11346520C>G	ENST00000304623.8	-	9	1781	c.1592G>C	c.(1591-1593)aGg>aCg	p.R531T	CTNND2_ENST00000359640.2_Missense_Mutation_p.R531T|CTNND2_ENST00000458100.2_Missense_Mutation_p.R98T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R440T|CTNND2_ENST00000503622.1_Missense_Mutation_p.R194T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	531					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGACGGGGACCTGGCCAAGGT	0.498																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1591-1593)aGg>aCg		catenin (cadherin-associated protein), delta 2							91.0	99.0	96.0					5																	11346520		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346520C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1592G>C	5.37:g.11346520C>G	ENSP00000307134:p.Arg531Thr					CTNND2_ENST00000511377.1_Missense_Mutation_p.R440T|CTNND2_ENST00000503622.1_Missense_Mutation_p.R194T|CTNND2_ENST00000458100.2_Missense_Mutation_p.R98T|CTNND2_ENST00000359640.2_Missense_Mutation_p.R531T|CTNND2_ENST00000495388.2_5'UTR	p.R531T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			9	1781	-			531					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1592G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425116	0.83667	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79454	-1.18;-1.27;-1.19;-1.26;-1.23	5.9	5.03	0.67393	.	0.122950	0.48767	D	0.000166	T	0.81555	0.4847	L	0.55743	1.74	0.42109	D	0.991378	P;B;D	0.63880	0.546;0.155;0.993	B;B;P	0.53954	0.136;0.096;0.738	D	0.83954	0.0318	10	0.72032	D	0.01	-7.4488	14.856	0.70338	0.0:0.9316:0.0:0.0684	.	194;98;531	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	T	531;531;440;98;194	ENSP00000307134:R531T;ENSP00000352661:R531T;ENSP00000426510:R440T;ENSP00000391155:R98T;ENSP00000426887:R194T	ENSP00000307134:R531T	R	-	2	0	CTNND2	11399520	1.000000	0.71417	0.938000	0.37757	0.994000	0.84299	5.749000	0.68704	1.517000	0.48917	0.585000	0.79938	AGG		0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		34	89	0	0	0	1	0	34	89				
KPNA2	3838	broad.mit.edu	37	17	66039262	66039262	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:66039262G>A	ENST00000537025.2	+	7	1333	c.713G>A	c.(712-714)cGc>cAc	p.R238H	KPNA2_ENST00000330459.3_Missense_Mutation_p.R238H			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	238	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATCTTTGCCGCAACAAGAAT	0.453																																						ENST00000537025.2																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22						c.(712-714)cGc>cAc		karyopherin alpha 2 (RAG cohort 1, importin alpha 1)							225.0	236.0	232.0					17																	66039262		2203	4299	6502	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66039262G>A	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.713G>A	17.37:g.66039262G>A	ENSP00000438483:p.Arg238His					KPNA2_ENST00000330459.3_Missense_Mutation_p.R238H	p.R238H			P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	1333	+	all_cancers(12;1.18e-09)		238			NLS binding site (major) (By similarity).		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.713G>A	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279717	0.59758	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.70986	-0.53;-0.53	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	D	0.82384	0.5025	M	0.90369	3.11	0.80722	D	1	B	0.31625	0.332	B	0.41466	0.358	D	0.84230	0.0466	10	0.72032	D	0.01	.	19.1249	0.93378	0.0:0.0:1.0:0.0	.	238	P52292	IMA2_HUMAN	H	238	ENSP00000332455:R238H;ENSP00000438483:R238H	ENSP00000332455:R238H	R	+	2	0	KPNA2	63469724	1.000000	0.71417	0.998000	0.56505	0.380000	0.30137	9.633000	0.98432	2.502000	0.84385	0.557000	0.71058	CGC		0.453	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		6	576	0	0	0	1	0	6	576				
FAM49A	81553	broad.mit.edu	37	2	16742741	16742741	+	Missense_Mutation	SNP	G	G	A	rs140297141		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr2:16742741G>A	ENST00000381323.3	-	7	716	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	FAM49A_ENST00000355549.2_Missense_Mutation_p.R166C|FAM49A_ENST00000406434.1_Missense_Mutation_p.R166C	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	166						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTGTTGATGCGGTTGCGACTG	0.483																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(496-498)Cgc>Tgc		family with sequence similarity 49, member A		G	CYS/ARG	0,4406		0,0,2203	153.0	131.0	138.0		496	3.8	0.6	2	dbSNP_134	138	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FAM49A	NM_030797.3	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	166/324	16742741	3,13003	2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16742741G>A	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.496C>T	2.37:g.16742741G>A	ENSP00000370724:p.Arg166Cys					FAM49A_ENST00000406434.1_Missense_Mutation_p.R166C|FAM49A_ENST00000355549.2_Missense_Mutation_p.R166C	p.R166C	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		7	716	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		166					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.496C>T	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.621191	0.66787	0.0	3.49E-4	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.53857	0.6;0.6;0.6	5.7	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	T	0.74890	-0.3510	10	0.87932	D	0	-13.8022	13.7899	0.63133	0.0:0.0:0.4716:0.5284	.	166	Q9H0Q0	FA49A_HUMAN	C	166	ENSP00000370724:R166C;ENSP00000384771:R166C;ENSP00000347744:R166C	ENSP00000347744:R166C	R	-	1	0	FAM49A	16606222	1.000000	0.71417	0.562000	0.28370	0.966000	0.64601	1.739000	0.38217	0.824000	0.34613	0.655000	0.94253	CGC		0.483	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		5	79	0	0	0	1	0	5	79				
CCL4L1	9560	broad.mit.edu	37	17	34539766	34539766	+	Intron	SNP	A	A	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:34539766A>T	ENST00000444414.1	+	3	425				CCL4L1_ENST00000591637.1_Missense_Mutation_p.S85C|CCL4L1_ENST00000358756.5_Intron|CCL4L1_ENST00000378352.4_Intron|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000591167.1_Splice_Site_p.V64V|CCL4L1_ENST00000389068.5_Intron|CCL4L1_ENST00000589079.1_Missense_Mutation_p.R81S|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000378350.4_Missense_Mutation_p.R74S|CCL4L1_ENST00000400702.4_Missense_Mutation_p.S50C|CCL4L1_ENST00000588929.1_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 1						cell chemotaxis (GO:0060326)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)							Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		catccaccagagctgccccac	0.557																																						ENST00000378350.4																			0											c.(220-222)agA>agT		chemokine (C-C motif) ligand 4-like 1																																				SO:0001627	intron_variant	9560							g.chr17:34539766A>T	X53682	CCDS32627.1	17q12	2014-04-11	2003-07-17	2005-04-27	ENSG00000205020	ENSG00000276070		"""Chemokine ligands"""	10631	protein-coding gene	gene with protein product		610757	"""small inducible cytokine A4-like"", ""chemokine (C-C motif) ligand 4-like"""	SCYA4L, CCL4L		8661057, 1972563, 15028295	Standard	XM_006710030		Approved	AT744.2, LAG-1		Q8NHW4	OTTHUMG00000188420	ENST00000444414.1:c.192-118A>T	17.37:g.34539766A>T						CCL4L1_ENST00000591637.1_Missense_Mutation_p.S85C|CCL4L1_ENST00000389068.5_Intron|CCL4L1_ENST00000591167.1_Splice_Site_p.V64_splice|CCL4L1_ENST00000444414.1_Intron|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000378352.4_Intron|CCL4L1_ENST00000588929.1_Intron|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000400702.4_Missense_Mutation_p.S50C|CCL4L1_ENST00000589079.1_Missense_Mutation_p.R81S|CCL4L1_ENST00000358756.5_Intron	p.R74S						UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	440	+		Breast(25;0.102)|Ovarian(249;0.17)						B2RUZ3|B7ZMA8|Q50EM1|Q50EM2|Q50EM3|Q50EM4|Q50EM5|Q50EM6|Q50EM7|Q50EM8|Q569J2|Q6NSB0	Missense_Mutation	SNP	ENST00000444414.1	37	c.222A>T	CCDS32627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	8.853|8.853	0.944993|0.944993	0.18356|0.18356	.|.	.|.	ENSG00000205020|ENSG00000205020	ENST00000378350|ENST00000400702	.|T	.|0.38887	.|1.11	2.32|2.32	-0.0236|-0.0236	0.13942|0.13942	.|.	.|.	.|.	.|.	.|.	T|T	0.37348|0.37348	0.1000|0.1000	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38628|0.38628	-0.9652|-0.9652	5|6	0.87932|0.87932	D|D	0|0	.|.	4.3034|4.3034	0.10935|0.10935	0.6101:0.0:0.3899:0.0|0.6101:0.0:0.3899:0.0	.|.	.|.	.|.	.|.	S|C	81|50	.|ENSP00000383538:S50C	ENSP00000367601:R81S|ENSP00000383538:S50C	R|S	+|+	3|1	2|0	CCL4L1|CCL4L1	31563879|31563879	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.295000|0.295000	0.27426|0.27426	0.276000|0.276000	0.18716|0.18716	-0.010000|-0.010000	0.14271|0.14271	0.055000|0.055000	0.15244|0.15244	AGA|AGC		0.557	CCL4L1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450625.1	NM_001001435		5	9	0	0	0	1	0	5	9				
CDH9	1007	broad.mit.edu	37	5	26885845	26885846	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr5:26885845_26885846delCG	ENST00000231021.4	-	11	1931_1932	c.1759_1760delCG	c.(1759-1761)cgtfs	p.R587fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	587	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCACACACACGGATAGTGAGT	0.48																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1759-1761)tfs		cadherin 9, type 2 (T1-cadherin)																																				SO:0001589	frameshift_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885845_26885846delCG	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1759_1760delCG	5.37:g.26885845_26885846delCG	ENSP00000231021:p.Arg587fs						p.R587fs	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			11	1931_1932	-			587			Cadherin 5.		Q3B7I5	Frame_Shift_Del	DEL	ENST00000231021.4	37	c.1759_1760delCG	CCDS3893.1																																																																																				0.480	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		17	32						17	32	---	---	---	---
HDAC2	3066	broad.mit.edu	37	6	114292109	114292110	+	5'UTR	INS	-	-	CTG	rs545748113|rs528988883	byFrequency	TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr6:114292109_114292110insCTG	ENST00000519065.1	-	0	339_340				RP3-399L15.3_ENST00000520891.1_RNA|RP3-399L15.3_ENST00000521888.1_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000522844.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HDAC2_ENST00000398283.2_In_Frame_Ins_p.81_82insS|HDAC2_ENST00000519108.1_5'Flank|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA			Q92769	HDAC2_HUMAN	histone deacetylase 2						ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GGCTCCTCCTCctgctgctgct	0.688														365	0.0728834	0.0227	0.1297	5008	,	,		15962	0.0258		0.1034	False		,,,				2504	0.1176					ENST00000398283.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(244-246)aag>aCAGag		histone deacetylase 2	Vorinostat(DB02546)																																			SO:0001623	5_prime_UTR_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114292109_114292110insCTG	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.-38->CAG	6.37:g.114292116_114292118dupCTG						HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000519104.1_RNA	p.82_82K>TE	NM_001527.3	NP_001518.3	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	1	249_250	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	0			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	In_Frame_Ins	INS	ENST00000519065.1	37	c.245_246insCAG	CCDS43493.2																																																																																				0.688	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			4	6						4	6	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21396296	21396297	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr13:21396296_21396297insAA	ENST00000255305.6	-	8	1043_1044	c.972_973insTT	c.(970-975)attgagfs	p.E325fs	XPO4_ENST00000400602.2_Frame_Shift_Ins_p.E325fs			Q9C0E2	XPO4_HUMAN	exportin 4	325					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGTAATCCCTCAATGAAGTGTG	0.416																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(970-975)atagggfs		exportin 4																																				SO:0001589	frameshift_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21396296_21396297insAA	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.971_972dupTT	13.37:g.21396297_21396298dupAA	ENSP00000255305:p.Glu325fs					XPO4_ENST00000255305.6_Frame_Shift_Ins_p.G325fs	p.G325fs	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	8	1007_1008	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	325					Q5VUZ5|Q8N3V6|Q9H934	Frame_Shift_Ins	INS	ENST00000255305.6	37	c.972_973insTT	CCDS41872.1																																																																																				0.416	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		11	87						11	87	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		8	128						8	128	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32957035	32957035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr17:32957035delG	ENST00000321639.5	+	6	1405	c.1077delG	c.(1075-1077)gagfs	p.E359fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	359						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGGACACAGAGATCATCAACA	0.622																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1075-1077)gafs		transmembrane protein 132E							93.0	66.0	75.0					17																	32957035		2203	4300	6503	SO:0001589	frameshift_variant	124842					integral to membrane		g.chr17:32957035delG	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1077delG	17.37:g.32957035delG	ENSP00000316532:p.Glu359fs						p.E359fs	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	6	1405	+			359					Q8WUF4|Q8WVA5	Frame_Shift_Del	DEL	ENST00000321639.5	37	c.1077delG	CCDS11283.1																																																																																				0.622	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		17	34						17	34	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9049102	9049103	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:9049102_9049103insA	ENST00000397910.4	-	5	32731_32732	c.32528_32529insT	c.(32527-32529)ttcfs	p.F10843fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10845	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTACTATGGAAAAAAATGGA	0.49																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32527-32529)tcafs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049102_9049103insA	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32529dupT	19.37:g.9049109_9049109dupA	ENSP00000381008:p.Phe10843fs						p.S10843fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32731_32732	-			10845			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.32528_32529insT	CCDS54212.1																																																																																				0.490	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		72	196						72	196	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330750	39330751	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr19:39330750_39330751insA	ENST00000221419.5	-	8	1584_1585	c.1218_1219insT	c.(1216-1221)tatggcfs	p.G407fs	HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.G274fs|AC104534.3_ENST00000594769.1_Frame_Shift_Ins_p.M23fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	407	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCCACATTGCCATATAAGCAGA	0.569																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1216-1221)tagcaafs		heterogeneous nuclear ribonucleoprotein L																																				SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330750_39330751insA	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1219dupT	19.37:g.39330751_39330751dupA	ENSP00000221419:p.Gly407fs					AC104534.3_ENST00000594769.1_Frame_Shift_Ins_p.S23fs|HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.*Q273fs	p.*Q406fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1584_1585	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		406			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Ins	INS	ENST00000221419.5	37	c.1218_1219insT	CCDS33015.1																																																																																				0.569	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			76	104						76	104	---	---	---	---
CCDC157	550631	broad.mit.edu	37	22	30768235	30768237	+	In_Frame_Del	DEL	AGG	AGG	-	rs199913583	byFrequency	TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr22:30768235_30768237delAGG	ENST00000405659.1	+	7	2004_2006	c.1295_1297delAGG	c.(1294-1299)aaggag>aag	p.E433del	CCDC157_ENST00000338306.3_In_Frame_Del_p.E433del|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	433										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GAGCTGGATAAGGAGAAGGCCCG	0.665														73	0.0145767	0.0507	0.0086	5008	,	,		17660	0.0		0.0	False		,,,				2504	0.0					ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(1294-1299)aag>a		coiled-coil domain containing 157				199,4053		12,175,1939						4.9	1.0			16	2,8240		0,2,4119	no	coding	CCDC157	NM_001017437.2		12,177,6058	A1A1,A1R,RR		0.0243,4.6802,1.6088				201,12293				SO:0001651	inframe_deletion	550631							g.chr22:30768235_30768237delAGG	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1295_1297delAGG	22.37:g.30768235_30768237delAGG	ENSP00000385357:p.Glu433del					CCDC157_ENST00000338306.3_In_Frame_Del_p.KE432del	p.KE432del			Q569K6	CC157_HUMAN			7	2004_2006	+			432					Q0VD76|Q9BYA4	In_Frame_Del	DEL	ENST00000405659.1	37	c.1295_1297delAGG	CCDS33632.2																																																																																				0.665	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		7	5						7	5	---	---	---	---
RABL2B	11158	broad.mit.edu	37	22	51207956	51207957	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A8Z7-01A-11D-A391-08	TCGA-QK-A8Z7-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30edd8e9-a4a0-44b1-9d9d-9729d1d43180	4f78ee17-151d-4359-b464-8cda333d247c	g.chr22:51207956_51207957insT	ENST00000395598.3	-	7	641_642	c.430_431insA	c.(430-432)agcfs	p.S144fs	RABL2B_ENST00000435118.1_Frame_Shift_Ins_p.S144fs|RABL2B_ENST00000395593.3_Frame_Shift_Ins_p.S144fs|RABL2B_ENST00000354869.3_Frame_Shift_Ins_p.S145fs|RABL2B_ENST00000395595.3_Frame_Shift_Ins_p.S145fs|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395591.1_Frame_Shift_Ins_p.S81fs	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	144					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		AAAATTGAAGCTTTTTTGGGTC	0.515																																					GBM(148;358 1894 4987 13698 40400)	ENST00000395595.3																			0				lung(1)	1						c.(433-435)cttfs		RAB, member of RAS oncogene family-like 2B																																				SO:0001589	frameshift_variant	11158				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr22:51207956_51207957insT		CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"""RAB, member RAS oncogene"""	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.431dupA	22.37:g.51207962_51207962dupT	ENSP00000378962:p.Ser144fs					RABL2B_ENST00000395598.3_Frame_Shift_Ins_p.L144fs|RABL2B_ENST00000354869.3_Frame_Shift_Ins_p.L145fs|RABL2B_ENST00000395593.3_Frame_Shift_Ins_p.L144fs|RABL2B_ENST00000435118.1_Frame_Shift_Ins_p.L144fs|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395591.1_Frame_Shift_Ins_p.L81fs	p.L145fs	NM_001130921.1	NP_001124393.1	Q9UNT1	RBL2B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)	8	900_901	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	144					Q5TZT8|Q96C33	Frame_Shift_Ins	INS	ENST00000395598.3	37	c.433_434insA	CCDS14102.1																																																																																				0.515	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316606.1	NM_001003789		10	112						10	112	---	---	---	---
