#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
OSBPL6	114880	broad.mit.edu	37	2	179247226	179247226	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:179247226C>T	ENST00000190611.4	+	16	1989	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F	OSBPL6_ENST00000357080.4_Missense_Mutation_p.S471F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S542F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S507F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S502F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S563F|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S502F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	538					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S538F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GACAATATTTCTCGGCAAAGT	0.428																																						ENST00000190611.4																			1	Substitution - Missense(1)	p.S538F(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1612-1614)tCt>tTt		oxysterol binding protein-like 6							118.0	108.0	112.0					2																	179247226		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179247226C>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1613C>T	2.37:g.179247226C>T	ENSP00000190611:p.Ser538Phe					OSBPL6_ENST00000359685.3_Missense_Mutation_p.S502F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S507F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S563F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S471F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S502F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S542F	p.S538F	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		16	1989	+			538					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1613C>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029222	0.93518	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.13089	2.64;2.65;2.62;2.65;2.65;2.65;2.64	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.44542	1.39	0.80722	D	1	D;D;P;D;D;D	0.76494	0.957;0.998;0.935;0.998;0.996;0.999	P;D;P;D;P;D	0.83275	0.865;0.958;0.796;0.958;0.823;0.996	T	0.01208	-1.1418	10	0.13853	T	0.58	-16.2973	20.3932	0.98965	0.0:1.0:0.0:0.0	.	507;542;502;563;538;471	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	F	563;502;471;507;538;502;542	ENSP00000376293:S563F;ENSP00000352713:S502F;ENSP00000349591:S471F;ENSP00000387248:S507F;ENSP00000190611:S538F;ENSP00000386885:S502F;ENSP00000318723:S542F	ENSP00000190611:S538F	S	+	2	0	OSBPL6	178955472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.516000	0.60496	2.824000	0.97209	0.655000	0.94253	TCT		0.428	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		5	26	0	0	0	1	0	5	26				
MAGEC1	9947	broad.mit.edu	37	X	140996236	140996236	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:140996236G>A	ENST00000285879.4	+	4	3332	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	MAGEC1_ENST00000406005.2_Missense_Mutation_p.E83K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1016	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGCCTCTGAGGAGGTCAT	0.547										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(3046-3048)Gag>Aag		melanoma antigen family C, 1							84.0	78.0	80.0					X																	140996236		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996236G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3046G>A	X.37:g.140996236G>A	ENSP00000285879:p.Glu1016Lys	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.E83K	p.E1016K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3332	+	Acute lymphoblastic leukemia(192;6.56e-05)		1016			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.3046G>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	10.79	1.450843	0.26074	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.10192	2.9;2.9	0.837	0.837	0.18896	.	.	.	.	.	T	0.33411	0.0862	M	0.90870	3.155	0.09310	N	1	P	0.51057	0.941	P	0.60415	0.874	T	0.06954	-1.0798	8	0.87932	D	0	.	.	.	.	.	1016	O60732	MAGC1_HUMAN	K	1016;83	ENSP00000285879:E1016K;ENSP00000385500:E83K	ENSP00000285879:E1016K	E	+	1	0	MAGEC1	140823902	0.049000	0.20398	0.017000	0.16124	0.145000	0.21501	1.631000	0.37092	0.696000	0.31696	0.279000	0.19357	GAG		0.547	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		4	78	0	0	0	1	0	4	78				
BYSL	705	broad.mit.edu	37	6	41897915	41897915	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:41897915G>A	ENST00000230340.4	+	3	852	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	159					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAGAAGCAGACAGAGGTTG	0.602																																						ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(475-477)caG>caA		bystin-like							76.0	76.0	76.0					6																	41897915		2203	4300	6503	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41897915G>A	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.477G>A	6.37:g.41897915G>A							p.Q159Q	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	852	+	Colorectal(47;0.121)		159					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.477G>A	CCDS34450.1																																																																																				0.602	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			10	85	0	0	0	1	0	10	85				
PARP14	54625	broad.mit.edu	37	3	122437494	122437494	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:122437494G>A	ENST00000474629.2	+	14	4762	c.4496G>A	c.(4495-4497)gGa>gAa	p.G1499E	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1499				G -> A (in Ref. 1; AAN08627). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGGTTTTGGGAATTAGCAGA	0.413																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(4495-4497)gGa>gAa		poly (ADP-ribose) polymerase family, member 14							201.0	197.0	198.0					3																	122437494		1923	4137	6060	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437494G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4496G>A	3.37:g.122437494G>A	ENSP00000418194:p.Gly1499Glu					PARP14_ENST00000475640.1_3'UTR	p.G1499E	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4762	+			1499	G -> A (in Ref. 1; AAN08627).				B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.4496G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268366	0.80469	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.32988	1.43	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000003	T	0.58293	0.2112	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62854	-0.6766	10	0.87932	D	0	.	17.1378	0.86744	0.0:0.0:1.0:0.0	.	1499;1499	Q460N5-4;Q460N5	.;PAR14_HUMAN	E	1499;1418;102;495	ENSP00000418194:G1499E	ENSP00000310633:G102E	G	+	2	0	PARP14	123920184	1.000000	0.71417	0.204000	0.23530	0.803000	0.45373	8.929000	0.92859	2.621000	0.88768	0.650000	0.86243	GGA		0.413	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		52	247	0	0	0	1	0	52	247				
LDB3	11155	broad.mit.edu	37	10	88459051	88459051	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr10:88459051G>A	ENST00000372066.3	+	8	851	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	LDB3_ENST00000361373.4_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.E305K|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Missense_Mutation_p.E373K|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GTTTGAAACGGAACGTAACAG	0.483																																						ENST00000372056.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1117-1119)Gaa>Aaa		LIM domain binding 3							161.0	170.0	167.0					10																	88459051		1924	4142	6066	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88459051G>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.772G>A	10.37:g.88459051G>A	ENSP00000361136:p.Glu258Lys					LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Missense_Mutation_p.E258K|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Missense_Mutation_p.E305K|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000352360.5_Intron	p.E373K	NM_001171611.1	NP_001165082.1	O75112	LDB3_HUMAN			8	1140	+			0						Missense_Mutation	SNP	ENST00000372066.3	37	c.1117G>A	CCDS41545.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973751	0.92919	.	.	ENSG00000122367	ENST00000372066;ENST00000372056;ENST00000310944	T;T;T	0.46819	0.98;0.86;1.04	5.06	5.06	0.68205	.	.	.	.	.	T	0.66713	0.2817	M	0.73962	2.25	0.80722	D	1	D;D;P	0.89917	0.998;1.0;0.906	D;D;P	0.85130	0.994;0.997;0.6	T	0.61510	-0.7048	9	0.09843	T	0.71	.	18.6292	0.91354	0.0:0.0:1.0:0.0	.	373;305;258	O75112-4;O75112-5;O75112-6	.;.;.	K	258;373;305	ENSP00000361136:E258K;ENSP00000361126:E373K;ENSP00000311913:E305K	ENSP00000311913:E305K	E	+	1	0	LDB3	88449031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.988000	0.93501	2.642000	0.89623	0.561000	0.74099	GAA		0.483	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			41	164	0	0	0	1	0	41	164				
CLCN7	1186	broad.mit.edu	37	16	1501640	1501640	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:1501640G>A	ENST00000382745.4	-	16	2036	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L	CLCN7_ENST00000262318.8_Silent_p.L453L|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.L453L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	477					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GGTCGTGGAAGAGGCTCACCA	0.637																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(1429-1431)ctC>ctT		chloride channel, voltage-sensitive 7							74.0	56.0	62.0					16																	1501640		2196	4297	6493	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1501640G>A	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1431C>T	16.37:g.1501640G>A						CLCN7_ENST00000448525.1_Silent_p.L453L|CLCN7_ENST00000262318.8_Silent_p.L453L	p.L477L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN			16	2036	-		Hepatocellular(780;0.0893)	477					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.1431C>T	CCDS32361.1																																																																																				0.637	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		4	28	0	0	0	1	0	4	28				
SRRM2	23524	broad.mit.edu	37	16	2815912	2815912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:2815912C>T	ENST00000301740.8	+	11	5932	c.5383C>T	c.(5383-5385)Cag>Tag	p.Q1795*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1795	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGGATCTTCTCAGTCAACCTC	0.602																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5383-5385)Cag>Tag		serine/arginine repetitive matrix 2							45.0	52.0	50.0					16																	2815912		2198	4300	6498	SO:0001587	stop_gained	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815912C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5383C>T	16.37:g.2815912C>T	ENSP00000301740:p.Gln1795*						p.Q1795*	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5932	+			1795			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	c.5383C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	46	12.105987	0.99636	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-12.2021	14.803	0.69929	0.0:1.0:0.0:0.0	.	.	.	.	X	1795;1795;1047	.	ENSP00000301740:Q1795X	Q	+	1	0	SRRM2	2755913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.633000	0.46519	2.562000	0.86427	0.650000	0.86243	CAG		0.602	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			20	58	0	0	0	1	0	20	58				
ENOX1	55068	broad.mit.edu	37	13	43930251	43930251	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:43930251C>G	ENST00000261488.6	-	8	1204	c.627G>C	c.(625-627)aaG>aaC	p.K209N	ENOX1_ENST00000540032.1_Missense_Mutation_p.K22N|ENOX1_ENST00000412891.1_Missense_Mutation_p.K209N	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	209	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGCCTGAATCCTTTTTGTCGG	0.532																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(625-627)aaG>aaC		ecto-NOX disulfide-thiol exchanger 1							64.0	60.0	62.0					13																	43930251		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43930251C>G	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.627G>C	13.37:g.43930251C>G	ENSP00000261488:p.Lys209Asn					ENOX1_ENST00000540032.1_Missense_Mutation_p.K22N|ENOX1_ENST00000412891.1_Missense_Mutation_p.K209N	p.K209N	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	8	1204	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	209			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.627G>C	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317189	0.60524	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.50001	0.76;0.76	5.43	2.79	0.32731	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.61703	1.905	0.45015	D	0.998036	D;D	0.71674	0.998;0.998	D;D	0.76071	0.95;0.987	T	0.59123	-0.7513	10	0.52906	T	0.07	21.105	10.4297	0.44400	0.0:0.7896:0.0:0.2104	.	22;209	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	N	209;209;22	ENSP00000261488:K209N;ENSP00000415054:K209N	ENSP00000261488:K209N	K	-	3	2	ENOX1	42828251	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	1.148000	0.31614	0.284000	0.22305	0.655000	0.94253	AAG		0.532	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		14	53	0	0	0	1	0	14	53				
ANLN	54443	broad.mit.edu	37	7	36462273	36462273	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:36462273G>A	ENST00000265748.2	+	14	2552	c.2331G>A	c.(2329-2331)ttG>ttA	p.L777L	ANLN_ENST00000396068.2_Silent_p.L740L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	777	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTGATGAATTGAATAAATTGA	0.348																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2329-2331)ttG>ttA		anillin, actin binding protein							116.0	116.0	116.0					7																	36462273		2203	4300	6503	SO:0001819	synonymous_variant	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36462273G>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2331G>A	7.37:g.36462273G>A						ANLN_ENST00000396068.2_Silent_p.L740L	p.L777L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			14	2552	+			777			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP	ENST00000265748.2	37	c.2331G>A	CCDS5447.1																																																																																				0.348	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		14	61	0	0	0	1	0	14	61				
GBP1	2633	broad.mit.edu	37	1	89520433	89520433	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:89520433C>G	ENST00000370473.4	-	10	1816	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	533					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCCATCTTCTCAGTCAGTTGT	0.438																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(1597-1599)Gag>Cag		guanylate binding protein 1, interferon-inducible							307.0	312.0	311.0					1																	89520433		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89520433C>G	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1597G>C	1.37:g.89520433C>G	ENSP00000359504:p.Glu533Gln					GBP1_ENST00000484970.1_5'UTR	p.E533Q	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	10	1816	-		Lung NSC(277;0.123)	533					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.1597G>C	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142267	0.37825	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.59224	0.28	4.67	2.55	0.30701	Guanylate-binding protein, C-terminal (3);	0.404895	0.25369	N	0.031165	T	0.39279	0.1072	M	0.66939	2.045	0.24394	N	0.994734	B	0.32324	0.364	B	0.31290	0.127	T	0.41928	-0.9481	10	0.54805	T	0.06	.	12.7959	0.57558	0.0:0.747:0.253:0.0	.	533	P32455	GBP1_HUMAN	Q	533;496	ENSP00000359504:E533Q	ENSP00000359504:E533Q	E	-	1	0	GBP1	89293021	0.000000	0.05858	0.999000	0.59377	0.653000	0.38743	-0.018000	0.12568	2.151000	0.67156	0.491000	0.48974	GAG		0.438	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		5	503	0	0	0	1	0	5	503				
GABRB2	2561	broad.mit.edu	37	5	160973365	160973365	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:160973365C>T	ENST00000393959.1	-	2	131	c.132G>A	c.(130-132)ctG>ctA	p.L44L	GABRB2_ENST00000274547.2_Silent_p.L44L|GABRB2_ENST00000523730.1_5'Flank|GABRB2_ENST00000520240.1_Silent_p.L44L|GABRB2_ENST00000353437.6_Silent_p.L44L|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000517547.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	44					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATAGCCTTTCAGGAGTCTAT	0.453																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(130-132)ctG>ctA		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						95.0	89.0	91.0					5																	160973365		2203	4300	6503	SO:0001819	synonymous_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160973365C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.132G>A	5.37:g.160973365C>T						GABRB2_ENST00000353437.6_Silent_p.L44L|GABRB2_ENST00000520240.1_Silent_p.L44L|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000393959.1_Silent_p.L44L|GABRB2_ENST00000517547.1_Intron	p.L44L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	349	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	44					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.132G>A	CCDS4355.1																																																																																				0.453	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			11	49	0	0	0	1	0	11	49				
SCN9A	6335	broad.mit.edu	37	2	167056284	167056284	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:167056284C>T	ENST00000409435.1	-	26	4864	c.4865G>A	c.(4864-4866)cGt>cAt	p.R1622H	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1623H|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1611H|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1623H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1622					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTGACTAGACGTAGGATTCG	0.498																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4867-4869)cGt>cAt		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						143.0	145.0	144.0					2																	167056284		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056284C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4865G>A	2.37:g.167056284C>T	ENSP00000386330:p.Arg1622His					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1611H|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1622H|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1623H	p.R1623H			Q15858	SCN9A_HUMAN			27	5208	-			1622					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4868G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316604	0.81469	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.74	5.74	0.90152	.	0.161807	0.43747	D	0.000531	D	0.99384	0.9783	H	0.97682	4.055	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	D	0.98541	1.0632	10	0.87932	D	0	.	19.9095	0.97021	0.0:1.0:0.0:0.0	.	1611	E7EUN6	.	H	1611;1623;1623;1622	ENSP00000386306:R1611H;ENSP00000364536:R1623H;ENSP00000304748:R1623H;ENSP00000386330:R1622H	ENSP00000304748:R1623H	R	-	2	0	SCN9A	166764530	1.000000	0.71417	0.995000	0.50966	0.734000	0.41952	7.670000	0.83925	2.701000	0.92244	0.650000	0.86243	CGT		0.498	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		38	139	0	0	0	1	0	38	139				
ARID1B	57492	broad.mit.edu	37	6	157150436	157150436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:157150436C>T	ENST00000350026.5	+	2	1619	c.1618C>T	c.(1618-1620)Cag>Tag	p.Q540*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q482*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	540					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTCTCAGCCTCAGCAGAGCAG	0.567																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1618-1620)Cag>Tag		AT rich interactive domain 1B (SWI1-like)							123.0	114.0	117.0					6																	157150436		2203	4300	6503	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157150436C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1618C>T	6.37:g.157150436C>T	ENSP00000055163:p.Gln540*					ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q482*	p.Q540*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	2	1619	+		Breast(66;0.000162)|Ovarian(120;0.0265)	540					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.1618C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	41	8.650957	0.98901	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.8734	0.92325	0.0:1.0:0.0:0.0	.	.	.	.	X	540;540;540;482;39	.	ENSP00000275248:Q482X	Q	+	1	0	ARID1B	157192128	1.000000	0.71417	0.654000	0.29608	0.929000	0.56500	7.294000	0.78760	2.515000	0.84797	0.650000	0.86243	CAG		0.567	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		9	115	0	0	0	1	0	9	115				
DNMBP	23268	broad.mit.edu	37	10	101639929	101639929	+	Missense_Mutation	SNP	G	G	A	rs148968752		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr10:101639929G>A	ENST00000324109.4	-	16	4278	c.4187C>T	c.(4186-4188)tCg>tTg	p.S1396L	DNMBP_ENST00000540316.1_Missense_Mutation_p.S332L|DNMBP_ENST00000342239.3_Missense_Mutation_p.S1420L|DNMBP_ENST00000543621.1_Missense_Mutation_p.S642L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1396	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCAAGACCCCGAGGTAAAGGA	0.557																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4258-4260)tCg>tTg		dynamin binding protein			LEU/SER	0,4406		0,0,2203	144.0	139.0	141.0		4187	5.2	0.1	10	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DNMBP	NM_015221.2	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1396/1578	101639929	2,13004	2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101639929G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4187C>T	10.37:g.101639929G>A	ENSP00000315659:p.Ser1396Leu					DNMBP_ENST00000543621.1_Missense_Mutation_p.S642L|DNMBP_ENST00000324109.4_Missense_Mutation_p.S1396L|DNMBP_ENST00000540316.1_Missense_Mutation_p.S332L	p.S1420L			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	16	4350	-		Colorectal(252;0.234)	1396			Ser-rich.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.4259C>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963236	0.34659	0.0	2.33E-4	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.35789	2.72;2.66;2.33;1.29	5.23	5.23	0.72850	.	0.000000	0.38217	N	0.001761	T	0.24122	0.0584	L	0.36672	1.1	0.21105	N	0.999783	P;P;P	0.42556	0.614;0.733;0.783	B;B;B	0.24974	0.041;0.057;0.057	T	0.36915	-0.9728	10	0.66056	D	0.02	-0.3773	13.6533	0.62323	0.0:0.0:0.8062:0.1938	.	1396;642;1420	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	1420;1396;642;642;332	ENSP00000344914:S1420L;ENSP00000315659:S1396L;ENSP00000443657:S642L;ENSP00000443573:S332L	ENSP00000315659:S1396L	S	-	2	0	DNMBP	101629919	0.914000	0.31030	0.129000	0.21949	0.220000	0.24768	4.985000	0.63845	2.444000	0.82710	0.561000	0.74099	TCG		0.557	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		46	188	0	0	0	1	0	46	188				
TTF2	8458	broad.mit.edu	37	1	117618364	117618364	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:117618364C>T	ENST00000369466.4	+	5	1202	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	386					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACCTCCAATTCCCTGATCGAA	0.502																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1156-1158)ttC>ttT		transcription termination factor, RNA polymerase II							54.0	55.0	55.0					1																	117618364		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117618364C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1158C>T	1.37:g.117618364C>T							p.F386F	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	5	1202	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	386					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.1158C>T	CCDS892.1																																																																																				0.502	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			6	38	0	0	0	1	0	6	38				
ZNF609	23060	broad.mit.edu	37	15	64968080	64968080	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:64968080G>A	ENST00000326648.3	+	4	3155	c.3027G>A	c.(3025-3027)caG>caA	p.Q1009Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1009						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGAACAGCAGAAACGCCAGA	0.562																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3025-3027)caG>caA		zinc finger protein 609							162.0	145.0	151.0					15																	64968080		2203	4299	6502	SO:0001819	synonymous_variant	23060					nucleus	zinc ion binding	g.chr15:64968080G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3027G>A	15.37:g.64968080G>A							p.Q1009Q	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	3155	+			1009					Q0D2I2	Silent	SNP	ENST00000326648.3	37	c.3027G>A	CCDS32270.1																																																																																				0.562	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		39	148	0	0	0	1	0	39	148				
AHSG	197	broad.mit.edu	37	3	186338451	186338451	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:186338451C>T	ENST00000273784.5	+	7	915	c.839C>T	c.(838-840)cCg>cTg	p.P280L	AHSG_ENST00000411641.2_Missense_Mutation_p.P279L	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	279					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GATGCACCTCCGTCCCCTCCA	0.622																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(835-837)cCg>cTg		alpha-2-HS-glycoprotein							115.0	119.0	118.0					3																	186338451		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338451C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.839C>T	3.37:g.186338451C>T	ENSP00000273784:p.Pro280Leu					AHSG_ENST00000273784.5_Missense_Mutation_p.P280L	p.P279L			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1055	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		279					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.836C>T		.	.	.	.	.	.	.	.	.	.	c	9.604	1.129449	0.21041	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.05081	3.51;3.5	5.5	-4.68	0.03309	.	2.148510	0.01547	N	0.019528	T	0.02807	0.0084	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.0	T	0.39396	-0.9616	10	0.35671	T	0.21	1.2998	2.9804	0.05952	0.1127:0.3675:0.1006:0.4192	.	345;279;280	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	L	279;345;280	ENSP00000393887:P279L;ENSP00000273784:P280L	ENSP00000273784:P280L	P	+	2	0	AHSG	187821145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.220000	0.02971	-0.771000	0.04608	-0.794000	0.03295	CCG		0.622	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		5	252	0	0	0	1	0	5	252				
SKA3	221150	broad.mit.edu	37	13	21742369	21742369	+	Silent	SNP	G	G	A	rs557088655		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:21742369G>A	ENST00000314759.5	-	4	625	c.501C>T	c.(499-501)atC>atT	p.I167I	SKA3_ENST00000400018.3_Silent_p.I167I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	167					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						CTTGGGATACGATGTACCGCT	0.438																																						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.(499-501)atC>atT		spindle and kinetochore associated complex subunit 3							155.0	159.0	158.0					13																	21742369		2203	4300	6503	SO:0001819	synonymous_variant	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21742369G>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.501C>T	13.37:g.21742369G>A						SKA3_ENST00000400018.3_Silent_p.I167I	p.I167I	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			4	625	-			167					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Silent	SNP	ENST00000314759.5	37	c.501C>T	CCDS31946.1																																																																																				0.438	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		37	123	0	0	0	1	0	37	123				
C21orf91	54149	broad.mit.edu	37	21	19169339	19169339	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr21:19169339C>T	ENST00000400558.3	-	3	314	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Missense_Mutation_p.R75Q|C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Missense_Mutation_p.R75Q	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AAGCTTAGATCGAGGACAACC	0.363																																						ENST00000284881.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(223-225)cGa>cAa		chromosome 21 open reading frame 91							74.0	70.0	71.0					21																	19169339		1834	4072	5906	SO:0001583	missense	54149							g.chr21:19169339C>T	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.224G>A	21.37:g.19169339C>T	ENSP00000383403:p.Arg75Gln					C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Missense_Mutation_p.R75Q|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400558.3_Missense_Mutation_p.R75Q	p.R75Q	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	3	314	-			75						Missense_Mutation	SNP	ENST00000400558.3	37	c.224G>A	CCDS42909.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270379	0.80469	.	.	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.94	5.07	0.68467	.	0.106318	0.64402	D	0.000004	T	0.39036	0.1063	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.947;0.968	T	0.14172	-1.0482	9	.	.	.	-5.0647	14.4604	0.67445	0.0:0.9298:0.0:0.0702	.	75;75	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	Q	75	ENSP00000284881:R75Q;ENSP00000383404:R75Q;ENSP00000383403:R75Q;ENSP00000385566:R75Q	.	R	-	2	0	C21orf91	18091210	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	2.156000	0.42310	1.529000	0.49120	-0.143000	0.13931	CGA		0.363	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		11	56	0	0	0	1	0	11	56				
GRIP1	23426	broad.mit.edu	37	12	66814548	66814548	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:66814548C>T	ENST00000398016.3	-	14	1702	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E	GRIP1_ENST00000359742.4_Missense_Mutation_p.G597E|GRIP1_ENST00000286445.7_Missense_Mutation_p.G597E	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAGGGGGTCTCCTGGTTTTCT	0.368																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1789-1791)gGa>gAa		glutamate receptor interacting protein 1							157.0	145.0	149.0					12																	66814548		1829	4091	5920	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66814548C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1634G>A	12.37:g.66814548C>T	ENSP00000381098:p.Gly545Glu					GRIP1_ENST00000286445.7_Missense_Mutation_p.G597E|GRIP1_ENST00000398016.3_Missense_Mutation_p.G545E	p.G597E			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	15	2030	-			597			PDZ 5.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1790G>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.36|18.36	3.605914|3.605914	0.66445|0.66445	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.25749	.|1.78;1.78;1.78;1.78;1.78;1.78	5.16|5.16	5.16|5.16	0.70880|0.70880	.|PDZ/DHR/GLGF (4);	.|0.048345	.|0.85682	.|D	.|0.000000	T|T	0.55449|0.55449	0.1921|0.1921	M|M	0.82823|0.82823	2.61|2.61	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D;D;D	.|0.76494	.|0.695;0.966;0.999;0.999	.|B;D;D;D	.|0.83275	.|0.332;0.963;0.988;0.996	T|T	0.57225|0.57225	-0.7848|-0.7848	5|9	.|.	.|.	.|.	-16.2213|-16.2213	17.3152|17.3152	0.87221|0.87221	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|545;597;545;597	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	K|E	412|545;597;597;545;489;437	.|ENSP00000381098:G545E;ENSP00000352780:G597E;ENSP00000286445:G597E;ENSP00000446047:G545E;ENSP00000446024:G489E;ENSP00000446011:G437E	.|.	E|G	-|-	1|2	0|0	GRIP1|GRIP1	65100815|65100815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.547000|0.547000	0.35210|0.35210	5.584000|5.584000	0.67490|0.67490	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.368	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			17	101	0	0	0	1	0	17	101				
ZNF562	54811	broad.mit.edu	37	19	9764512	9764512	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:9764512C>T	ENST00000448622.1	-	6	556	c.394G>A	c.(394-396)Gag>Aag	p.E132K	ZNF562_ENST00000293648.4_Missense_Mutation_p.E60K|ZNF562_ENST00000587392.1_3'UTR|ZNF562_ENST00000453792.2_Missense_Mutation_p.E63K|ZNF562_ENST00000453372.2_Missense_Mutation_p.E132K|ZNF562_ENST00000541032.1_Missense_Mutation_p.E95K|ZNF562_ENST00000537617.1_Missense_Mutation_p.E16K|ZNF562_ENST00000590155.1_Missense_Mutation_p.E131K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGAAGACCTCTCCACAATTC	0.403																																						ENST00000448622.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(394-396)Gag>Aag		zinc finger protein 562							84.0	77.0	79.0					19																	9764512		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9764512C>T	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.394G>A	19.37:g.9764512C>T	ENSP00000411784:p.Glu132Lys					ZNF562_ENST00000537617.1_Missense_Mutation_p.E16K|ZNF562_ENST00000453792.2_Missense_Mutation_p.E63K|ZNF562_ENST00000541032.1_Missense_Mutation_p.E95K|ZNF562_ENST00000293648.4_Missense_Mutation_p.E60K|ZNF562_ENST00000590155.1_Missense_Mutation_p.E131K|ZNF562_ENST00000453372.2_Missense_Mutation_p.E132K|ZNF562_ENST00000587392.1_3'UTR	p.E132K	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			6	556	-			132					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.394G>A	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	C	6.351	0.432924	0.12045	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	1.42	5.65E-5	0.14040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.11239	0.0274	N	0.00465	-1.465	0.25470	N	0.987837	B;P;B;P;B	0.39216	0.356;0.664;0.186;0.481;0.02	B;B;B;B;B	0.38842	0.115;0.283;0.152;0.222;0.013	T	0.18147	-1.0346	9	0.02654	T	1	.	4.1234	0.10116	0.0:0.3544:0.0:0.6456	.	16;131;95;132;60	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	K	132;132;60;95;63;16	ENSP00000410734:E132K;ENSP00000411784:E132K;ENSP00000293648:E60K;ENSP00000442614:E95K;ENSP00000440451:E63K;ENSP00000445816:E16K	ENSP00000293648:E60K	E	-	1	0	ZNF562	9625512	0.000000	0.05858	0.001000	0.08648	0.748000	0.42578	-0.341000	0.07811	0.009000	0.14813	0.313000	0.20887	GAG		0.403	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		15	74	0	0	0	1	0	15	74				
C7orf60	154743	broad.mit.edu	37	7	112555465	112555465	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:112555465C>G	ENST00000297145.4	-	2	363	c.198G>C	c.(196-198)gaG>gaC	p.E66D	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	66							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTTCTTCATCCTCACAGTGTT	0.363																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(196-198)gaG>gaC		chromosome 7 open reading frame 60							122.0	112.0	115.0					7																	112555465		1858	4104	5962	SO:0001583	missense	154743							g.chr7:112555465C>G		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.198G>C	7.37:g.112555465C>G	ENSP00000297145:p.Glu66Asp					C7orf60_ENST00000485446.1_5'UTR	p.E66D	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			2	363	-			66					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.198G>C	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267311	0.59540	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.51	0.104	0.14531	.	0.173002	0.52532	D	0.000062	T	0.42765	0.1217	L	0.55481	1.735	0.45427	D	0.998403	P;P	0.44006	0.824;0.651	B;B	0.39465	0.3;0.115	T	0.26395	-1.0104	9	0.52906	T	0.07	-13.1807	8.8489	0.35188	0.0:0.4017:0.0:0.5983	.	13;66	B4DST1;Q1RMZ1	.;CG060_HUMAN	D	66;48;13	.	ENSP00000297145:E66D	E	-	3	2	C7orf60	112342701	0.990000	0.36364	0.994000	0.49952	0.993000	0.82548	0.313000	0.19415	-0.208000	0.10171	-0.218000	0.12543	GAG		0.363	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		12	65	0	0	0	1	0	12	65				
PRPF8	10594	broad.mit.edu	37	17	1561562	1561562	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:1561562C>T	ENST00000572621.1	-	33	5755	c.5490G>A	c.(5488-5490)caG>caA	p.Q1830Q	PRPF8_ENST00000304992.6_Silent_p.Q1830Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1830	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAAACGCTTCTGTCCCGCCC	0.493																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5488-5490)caG>caA		pre-mRNA processing factor 8							108.0	98.0	101.0					17																	1561562		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1561562C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5490G>A	17.37:g.1561562C>T						PRPF8_ENST00000304992.6_Silent_p.Q1830Q	p.Q1830Q			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	33	5755	-			1830			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.5490G>A	CCDS11010.1																																																																																				0.493	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			15	65	0	0	0	1	0	15	65				
FANCD2	2177	broad.mit.edu	37	3	10084814	10084814	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:10084814G>A	ENST00000419585.1	+	12	1130	c.969G>A	c.(967-969)ttG>ttA	p.L323L	FANCD2_ENST00000383806.1_Silent_p.L323L|FANCD2_ENST00000287647.3_Silent_p.L323L|FANCD2_ENST00000383807.1_Silent_p.L323L			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	323	Interaction with BRCA2.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAGTAAAGTTGAAAAGTAAAG	0.413			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(967-969)ttG>ttA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							72.0	70.0	71.0					3																	10084814		2203	4300	6503	SO:0001819	synonymous_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10084814G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.969G>A	3.37:g.10084814G>A						FANCD2_ENST00000419585.1_Silent_p.L323L|FANCD2_ENST00000383807.1_Silent_p.L323L|FANCD2_ENST00000383806.1_Silent_p.L323L	p.L323L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	12	1062	+			323			Interaction with BRCA2.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.969G>A	CCDS33696.1																																																																																				0.413	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			17	52	0	0	0	1	0	17	52				
IGKV3D-11	28876	broad.mit.edu	37	2	90212193	90212193	+	RNA	SNP	C	C	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:90212193C>A	ENST00000390277.2	+	0	382									immunoglobulin kappa variable 3D-11																		CTCTCACCATCAGCAGCCTAG	0.527																																						ENST00000390277.2																			0																				75.0	79.0	77.0					2																	90212193		1922	4127	6049			28876							g.chr2:90212193C>A	X17264		2p11.2	2012-02-08			ENSG00000211632	ENSG00000211632		"""Immunoglobulins / IGK locus"""	5823	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151563		2.37:g.90212193C>A														0	382	+									RNA	SNP	ENST00000390277.2	37																																																																																						0.527	IGKV3D-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323138.2	NG_000833		20	119	1	0	3.51602e-12	1	3.67784e-12	20	119				
HNF4A	3172	broad.mit.edu	37	20	43043163	43043163	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:43043163C>G	ENST00000316099.4	+	5	598	c.509C>G	c.(508-510)tCc>tGc	p.S170C	HNF4A_ENST00000415691.2_Missense_Mutation_p.S170C|HNF4A_ENST00000443598.2_Missense_Mutation_p.S170C|HNF4A_ENST00000609795.1_Missense_Mutation_p.S148C|HNF4A_ENST00000316673.4_Missense_Mutation_p.S148C|HNF4A_ENST00000457232.1_Missense_Mutation_p.S148C	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	170					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCGTCTCCGGGATCAAC	0.597																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(508-510)tCc>tGc		hepatocyte nuclear factor 4, alpha							75.0	69.0	71.0					20																	43043163		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43043163C>G	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.509C>G	20.37:g.43043163C>G	ENSP00000312987:p.Ser170Cys					HNF4A_ENST00000457232.1_Missense_Mutation_p.S148C|HNF4A_ENST00000415691.1_Missense_Mutation_p.S170C|HNF4A_ENST00000443598.2_Missense_Mutation_p.S170C	p.S170C	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	598	+		Myeloproliferative disorder(115;0.0122)	170					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.509C>G	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873744	0.51695	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58	5.64	5.64	0.86602	Nuclear hormone receptor, ligand-binding (2);	0.529823	0.21309	N	0.076670	D	0.90096	0.6906	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;P;P	0.46220	0.874;0.65;0.65;0.847;0.795;0.756;0.831	B;B;B;B;B;B;B	0.43754	0.43;0.314;0.314;0.304;0.43;0.304;0.304	D	0.85012	0.0906	10	0.59425	D	0.04	.	10.4729	0.44648	0.0:0.7943:0.1339:0.0718	.	163;170;170;170;148;148;148	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	C	148;148;170;170;200;170	ENSP00000315180:S148C;ENSP00000396216:S148C;ENSP00000312987:S170C;ENSP00000410911:S170C;ENSP00000412111:S170C	ENSP00000312987:S170C	S	+	2	0	HNF4A	42476577	0.994000	0.37717	0.027000	0.17364	0.360000	0.29518	4.025000	0.57225	2.654000	0.90174	0.563000	0.77884	TCC		0.597	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			22	64	0	0	0	1	0	22	64				
RIC8A	60626	broad.mit.edu	37	11	212415	212415	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:212415G>A	ENST00000526104.1	+	6	2313		c.e6-1		RIC8A_ENST00000527696.1_Splice_Site|RIC8A_ENST00000325207.5_Splice_Site			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCTCTACAGACACACAGGC	0.572																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.e6-1		RIC8 guanine nucleotide exchange factor A							52.0	44.0	47.0					11																	212415		2202	4300	6502	SO:0001630	splice_region_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:212415G>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.970-1G>A	11.37:g.212415G>A						RIC8A_ENST00000325207.5_Splice_Site|RIC8A_ENST00000527696.1_Splice_Site				Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	6	2313	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Splice_Site	SNP	ENST00000526104.1	37			.	.	.	.	.	.	.	.	.	.	G	13.95	2.390623	0.42410	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696;ENST00000527728	.	.	.	3.12	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4404	0.67311	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIC8A	202415	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.266000	0.65525	2.057000	0.61298	0.561000	0.74099	.		0.572	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	Intron	4	20	0	0	0	1	0	4	20				
TMEM168	64418	broad.mit.edu	37	7	112407287	112407287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:112407287C>T	ENST00000312814.6	-	5	2619	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	TMEM168_ENST00000454074.1_Missense_Mutation_p.D687N	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	687						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TGTCCTGTGTCCAGCACAGTA	0.378																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(2059-2061)Gac>Aac		transmembrane protein 168							59.0	57.0	57.0					7																	112407287		2203	4299	6502	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112407287C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.2059G>A	7.37:g.112407287C>T	ENSP00000323068:p.Asp687Asn					TMEM168_ENST00000454074.1_Missense_Mutation_p.D687N	p.D687N	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			5	2619	-			687					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.2059G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310028	0.81247	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70498	-0.4855	9	0.33141	T	0.24	-30.0555	19.8711	0.96851	0.0:1.0:0.0:0.0	.	687	Q9H0V1	TM168_HUMAN	N	687;687;303;248	.	ENSP00000323068:D687N	D	-	1	0	TMEM168	112194523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.771000	0.85420	2.689000	0.91719	0.591000	0.81541	GAC		0.378	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		14	47	0	0	0	1	0	14	47				
HIVEP1	3096	broad.mit.edu	37	6	12122457	12122457	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:12122457C>T	ENST00000379388.2	+	4	2761	c.2429C>T	c.(2428-2430)cCg>cTg	p.P810L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	810					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCTGATATACCGAAGTCACCT	0.398																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(2428-2430)cCg>cTg		human immunodeficiency virus type I enhancer binding protein 1							142.0	133.0	136.0					6																	12122457		1896	4109	6005	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122457C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2429C>T	6.37:g.12122457C>T	ENSP00000368698:p.Pro810Leu						p.P810L	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	2761	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	810					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2429C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178657	0.78564	.	.	ENSG00000095951	ENST00000379388	T	0.10099	2.91	6.01	5.14	0.70334	.	0.000000	0.35936	N	0.002893	T	0.26666	0.0652	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06127	-1.0844	9	.	.	.	-22.426	16.7728	0.85543	0.13:0.87:0.0:0.0	.	810	P15822	ZEP1_HUMAN	L	810	ENSP00000368698:P810L	.	P	+	2	0	HIVEP1	12230443	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	1.546000	0.49388	-0.175000	0.13238	CCG		0.398	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		4	138	0	0	0	1	0	4	138				
POSTN	10631	broad.mit.edu	37	13	38160373	38160373	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:38160373G>A	ENST00000379747.4	-	7	915	c.798C>T	c.(796-798)gaC>gaT	p.D266D	POSTN_ENST00000379743.4_Silent_p.D266D|POSTN_ENST00000541179.1_Silent_p.D266D|POSTN_ENST00000541481.1_Silent_p.D266D|POSTN_ENST00000379749.4_Silent_p.D266D|POSTN_ENST00000379742.4_Silent_p.D266D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	266	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGAAGTGACCGTCTCTTCCAA	0.458																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(796-798)gaC>gaT		periostin, osteoblast specific factor							111.0	96.0	101.0					13																	38160373		2203	4300	6503	SO:0001819	synonymous_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160373G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.798C>T	13.37:g.38160373G>A						POSTN_ENST00000379749.4_Silent_p.D266D|POSTN_ENST00000541481.1_Silent_p.D266D|POSTN_ENST00000541179.1_Silent_p.D266D|POSTN_ENST00000379742.4_Silent_p.D266D|POSTN_ENST00000379743.4_Silent_p.D266D	p.D266D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	915	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	266			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	c.798C>T	CCDS9364.1																																																																																				0.458	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		18	64	0	0	0	1	0	18	64				
HIPK3	10114	broad.mit.edu	37	11	33308479	33308479	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:33308479G>A	ENST00000303296.4	+	2	824	c.519G>A	c.(517-519)caG>caA	p.Q173Q	HIPK3_ENST00000456517.1_Silent_p.Q173Q|HIPK3_ENST00000379016.3_Silent_p.Q173Q|HIPK3_ENST00000525975.1_Silent_p.Q173Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	173					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GATCAAAACAGAATTGTACCA	0.418																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(517-519)caG>caA		homeodomain interacting protein kinase 3							90.0	81.0	84.0					11																	33308479		2202	4298	6500	SO:0001819	synonymous_variant	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33308479G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.519G>A	11.37:g.33308479G>A						HIPK3_ENST00000379016.3_Silent_p.Q173Q|HIPK3_ENST00000525975.1_Silent_p.Q173Q|HIPK3_ENST00000456517.1_Silent_p.Q173Q	p.Q173Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			2	824	+			173					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	ENST00000303296.4	37	c.519G>A	CCDS7884.1																																																																																				0.418	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		19	51	0	0	0	1	0	19	51				
LARGE	9215	broad.mit.edu	37	22	33700301	33700301	+	Silent	SNP	G	G	A	rs113253213	byFrequency	TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:33700301G>A	ENST00000354992.2	-	13	2215	c.1644C>T	c.(1642-1644)aaC>aaT	p.N548N	LARGE_ENST00000337431.2_Silent_p.N496N|LARGE_ENST00000437602.2_Silent_p.N548N|LARGE_ENST00000402320.1_Silent_p.N496N|LARGE_ENST00000452586.2_Silent_p.N347N|LARGE_ENST00000397394.2_Silent_p.N548N	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	548					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCATGGCCACGTTGCGCAGCA	0.562													G|||	10	0.00199681	0.0068	0.0014	5008	,	,		23205	0.0		0.0	False		,,,				2504	0.0				Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1642-1644)aaC>aaT		like-glycosyltransferase		G	,	26,4380	33.5+/-64.1	0,26,2177	181.0	141.0	155.0		1644,1644	0.4	1.0	22	dbSNP_132	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LARGE	NM_004737.4,NM_133642.3	,	0,26,6477	AA,AG,GG		0.0,0.5901,0.1999	,	548/757,548/757	33700301	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33700301G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1644C>T	22.37:g.33700301G>A						LARGE_ENST00000437602.2_Silent_p.N548N|LARGE_ENST00000452586.2_Silent_p.N347N|LARGE_ENST00000397394.2_Silent_p.N548N|LARGE_ENST00000337431.2_Silent_p.N496N|LARGE_ENST00000402320.1_Silent_p.N496N	p.N548N	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			13	2215	-		Lung NSC(1;0.219)	548					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.1644C>T	CCDS13912.1																																																																																				0.562	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		27	104	0	0	0	1	0	27	104				
DSN1	79980	broad.mit.edu	37	20	35381201	35381201	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:35381201G>C	ENST00000426836.1	-	11	1433	c.1061C>G	c.(1060-1062)tCt>tGt	p.S354C	DSN1_ENST00000373740.3_Missense_Mutation_p.S282C|DSN1_ENST00000373750.4_Missense_Mutation_p.S354C|DSN1_ENST00000373745.3_Missense_Mutation_p.S354C|DSN1_ENST00000373734.4_Missense_Mutation_p.S247C|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Missense_Mutation_p.S338C	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	354					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TCACTGACAAGATCCAGATCC	0.498																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1060-1062)tCt>tGt		DSN1, MIS12 kinetochore complex component							181.0	154.0	163.0					20																	35381201		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35381201G>C	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.1061C>G	20.37:g.35381201G>C	ENSP00000389810:p.Ser354Cys					DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.1_Missense_Mutation_p.S338C|DSN1_ENST00000373734.4_Missense_Mutation_p.S247C|DSN1_ENST00000373740.3_Missense_Mutation_p.S282C|DSN1_ENST00000373745.3_Missense_Mutation_p.S354C|DSN1_ENST00000373750.4_Missense_Mutation_p.S354C	p.S354C	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			11	1433	-		Myeloproliferative disorder(115;0.00874)	354					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.1061C>G	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282846	0.59867	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734	.	.	.	5.02	4.07	0.47477	.	.	.	.	.	T	0.34308	0.0893	N	0.08118	0	0.09310	N	1	D;D	0.67145	0.993;0.996	P;P	0.62649	0.866;0.905	T	0.12426	-1.0548	8	0.87932	D	0	-23.4995	8.6543	0.34053	0.1004:0.0:0.8996:0.0	.	247;354	Q5JW55;Q9H410	.;DSN1_HUMAN	C	354;354;338;287;354;282;247	.	ENSP00000362838:S287C	S	-	2	0	DSN1	34814615	0.253000	0.23982	0.533000	0.28001	0.061000	0.15899	0.170000	0.16663	2.773000	0.95371	0.650000	0.86243	TCT		0.498	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		21	83	0	0	0	1	0	21	83				
CACNA1A	773	broad.mit.edu	37	19	13346065	13346065	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:13346065C>T	ENST00000360228.5	-	33	5090	c.5091G>A	c.(5089-5091)ctG>ctA	p.L1697L	CACNA1A_ENST00000573710.2_Silent_p.L1698L|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1698					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCATGGCGATCAGCAGACAGA	0.562											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5089-5091)ctG>ctA		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						44.0	51.0	49.0					19																	13346065		2038	4189	6227	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13346065C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5091G>A	19.37:g.13346065C>T			OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CACNA1A_ENST00000573710.2_Silent_p.L1698L|CACNA1A_ENST00000574822.1_5'UTR	p.L1697L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		33	5090	-			1698					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.5091G>A	CCDS45998.1																																																																																				0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	17	0	0	0	1	0	5	17				
SLC4A2	6522	broad.mit.edu	37	7	150773105	150773105	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:150773105G>A	ENST00000485713.1	+	22	4517	c.3477G>A	c.(3475-3477)cgG>cgA	p.R1159R	FASTK_ENST00000489884.1_5'Flank|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Silent_p.R1145R|SLC4A2_ENST00000310317.5_Silent_p.R1077R|SLC4A2_ENST00000413384.2_Silent_p.R1159R|SLC4A2_ENST00000392826.2_Silent_p.R1150R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1159	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCAGGTCCGGACCCTCCGTA	0.652																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(3475-3477)cgG>cgA		solute carrier family 4 (anion exchanger), member 2							54.0	54.0	54.0					7																	150773105		2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150773105G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3477G>A	7.37:g.150773105G>A						SLC4A2_ENST00000461735.1_Silent_p.R1145R|SLC4A2_ENST00000310317.5_Silent_p.R1077R|SLC4A2_ENST00000413384.2_Silent_p.R1159R|SLC4A2_ENST00000392826.2_Silent_p.R1150R|RP11-148K1.12_ENST00000485974.1_RNA	p.R1159R	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	22	4517	+			1159			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.3477G>A	CCDS5917.1																																																																																				0.652	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		16	62	0	0	0	1	0	16	62				
ABL2	27	broad.mit.edu	37	1	179086512	179086512	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:179086512C>G	ENST00000502732.1	-	8	1566	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q	ABL2_ENST00000507173.1_Missense_Mutation_p.E434Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E434Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E440Q|ABL2_ENST00000512653.1_Missense_Mutation_p.E440Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E419Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E419Q|ABL2_ENST00000392043.3_Missense_Mutation_p.E434Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E455Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GCAAGACTCTCTGGTGCTGTC	0.383			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(1363-1365)Gag>Cag		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						151.0	148.0	149.0					1																	179086512		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179086512C>G	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1363G>C	1.37:g.179086512C>G	ENSP00000427562:p.Glu455Gln					ABL2_ENST00000512653.1_Missense_Mutation_p.E440Q|ABL2_ENST00000392043.3_Missense_Mutation_p.E434Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E455Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E434Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E440Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E419Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E434Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E419Q	p.E455Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			8	1566	-			455			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.1363G>C	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973785	0.92919	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	4.92	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000068	D	0.94401	0.8199	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.992;0.992;0.997;0.997;0.99;0.997;0.998;0.998;0.998;0.997	D	0.95789	0.8823	10	0.87932	D	0	.	17.4556	0.87606	0.0:1.0:0.0:0.0	.	434;434;455;419;419;434;419;455;440;419;440	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	Q	455;419;440;440;419;434;434;455;434	ENSP00000427562:E455Q;ENSP00000386152:E419Q;ENSP00000339209:E440Q;ENSP00000423578:E440Q;ENSP00000426831:E419Q;ENSP00000356595:E434Q;ENSP00000423413:E434Q;ENSP00000424697:E455Q;ENSP00000375897:E434Q	ENSP00000339209:E440Q	E	-	1	0	ABL2	177353135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.417000	0.82017	0.655000	0.94253	GAG		0.383	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		21	113	0	0	0	1	0	21	113				
KIF21A	55605	broad.mit.edu	37	12	39756911	39756911	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:39756911G>A	ENST00000361418.5	-	7	1023	c.1008C>T	c.(1006-1008)ctC>ctT	p.L336L	KIF21A_ENST00000361961.3_Silent_p.L336L|KIF21A_ENST00000395670.3_Silent_p.L336L|KIF21A_ENST00000544797.2_Silent_p.L336L|KIF21A_ENST00000541463.2_Silent_p.L336L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	336	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L336L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TATTACCCCCGAGGGAATCCT	0.378																																						ENST00000395670.3																			1	Substitution - coding silent(1)	p.L336L(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1006-1008)ctC>ctT		kinesin family member 21A							151.0	148.0	149.0					12																	39756911		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39756911G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1008C>T	12.37:g.39756911G>A						KIF21A_ENST00000361418.5_Silent_p.L336L|KIF21A_ENST00000544797.2_Silent_p.L336L|KIF21A_ENST00000541463.2_Silent_p.L336L|KIF21A_ENST00000361961.3_Silent_p.L336L	p.L336L			Q7Z4S6	KI21A_HUMAN			7	1427	-		Lung NSC(34;0.179)|all_lung(34;0.213)	336					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1008C>T	CCDS53776.1																																																																																				0.378	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		19	73	0	0	0	1	0	19	73				
PARP8	79668	broad.mit.edu	37	5	50111356	50111356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:50111356C>T	ENST00000281631.5	+	15	1824	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	PARP8_ENST00000514342.2_Nonsense_Mutation_p.Q309*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000505554.1_Nonsense_Mutation_p.Q535*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	556						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AACTGGAGCTCAGGTAGTAAC	0.378																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1666-1668)Cag>Tag		poly (ADP-ribose) polymerase family, member 8							100.0	91.0	94.0					5																	50111356		2203	4300	6503	SO:0001587	stop_gained	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50111356C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1666C>T	5.37:g.50111356C>T	ENSP00000281631:p.Gln556*					PARP8_ENST00000514067.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000514342.2_Nonsense_Mutation_p.Q309*|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000505554.1_Nonsense_Mutation_p.Q535*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Q556*	p.Q556*	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			15	1824	+		Lung NSC(810;0.0305)|Breast(144;0.222)	556					Q3KRB7|Q6DHZ1|Q9H754	Nonsense_Mutation	SNP	ENST00000281631.5	37	c.1666C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	38	7.233938	0.98154	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0978	14.1233	0.65203	0.0:0.9253:0.0:0.0747	.	.	.	.	X	556;556;309;556;556;535;309;309	.	.	Q	+	1	0	PARP8	50147113	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.484000	0.66844	2.437000	0.82529	0.650000	0.86243	CAG		0.378	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		7	29	0	0	0	1	0	7	29				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	157	0	0	0	1	0	4	157				
ZNF521	25925	broad.mit.edu	37	18	22804669	22804669	+	Silent	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr18:22804669G>C	ENST00000361524.3	-	4	3361	c.3213C>G	c.(3211-3213)ctC>ctG	p.L1071L	ZNF521_ENST00000538137.2_Silent_p.L1071L|ZNF521_ENST00000584787.1_Silent_p.L851L|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1071					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.L1071L(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAATTCTTTGAGGCAAGATG	0.522			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - coding silent(1)	p.L1071L(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3211-3213)ctC>ctG		zinc finger protein 521							74.0	65.0	68.0					18																	22804669		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804669G>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3213C>G	18.37:g.22804669G>C						ZNF521_ENST00000584787.1_Silent_p.L851L|ZNF521_ENST00000538137.2_Silent_p.L1071L	p.L1071L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3361	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1071					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.3213C>G	CCDS32806.1																																																																																				0.522	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		21	65	0	0	0	1	0	21	65				
NF1	4763	broad.mit.edu	37	17	29556273	29556273	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:29556273G>A	ENST00000358273.4	+	21	3023	c.2640G>A	c.(2638-2640)gtG>gtA	p.V880V	NF1_ENST00000356175.3_Silent_p.V880V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	880					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGATTTCAGTGATGTCTTCAG	0.483			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2638-2640)gtG>gtA		neurofibromin 1							94.0	89.0	91.0					17																	29556273		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556273G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2640G>A	17.37:g.29556273G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Silent_p.V880V	p.V880V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	3023	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	880					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.2640G>A	CCDS42292.1																																																																																				0.483	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		33	99	0	0	0	1	0	33	99				
ATF4	468	broad.mit.edu	37	22	39918485	39918485	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:39918485G>C	ENST00000337304.2	+	2	1816	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	ATF4_ENST00000396680.1_Missense_Mutation_p.E312Q|ATF4_ENST00000404241.2_Missense_Mutation_p.E312Q	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	312	Interaction with GABBR1. {ECO:0000250}.|Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TGAGTGCAAAGAGCTGGAAAA	0.502																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(934-936)Gag>Cag		activating transcription factor 4							31.0	33.0	32.0					22																	39918485		2203	4300	6503	SO:0001583	missense	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39918485G>C	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.934G>C	22.37:g.39918485G>C	ENSP00000336790:p.Glu312Gln					ATF4_ENST00000404241.2_Missense_Mutation_p.E312Q|ATF4_ENST00000396680.1_Missense_Mutation_p.E312Q	p.E312Q	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			2	1816	+	Melanoma(58;0.04)		312			Interaction with GABBR1 (By similarity).|Leucine-zipper.		Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	c.934G>C	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287176	0.23478	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.56611	0.45;0.45;0.45	5.51	4.43	0.53597	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.308438	0.33938	N	0.004418	T	0.49695	0.1572	L	0.48935	1.535	0.41306	D	0.987075	B	0.32604	0.377	B	0.35510	0.204	T	0.57888	-0.7733	10	0.87932	D	0	-12.1957	15.7899	0.78345	0.0:0.1362:0.8638:0.0	.	312	P18848	ATF4_HUMAN	Q	312	ENSP00000384587:E312Q;ENSP00000336790:E312Q;ENSP00000379912:E312Q	ENSP00000336790:E312Q	E	+	1	0	ATF4	38248431	1.000000	0.71417	0.751000	0.31187	0.073000	0.16967	3.247000	0.51422	2.584000	0.87258	0.561000	0.74099	GAG		0.502	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		9	24	0	0	0	1	0	9	24				
FGFR1OP2	26127	broad.mit.edu	37	12	27116343	27116343	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:27116343C>T	ENST00000229395.3	+	6	921	c.579C>T	c.(577-579)gaC>gaT	p.D193D	FGFR1OP2_ENST00000327214.5_Silent_p.D155D	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	193					wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					TTGAAATTGACGAGCAACAGG	0.388																																						ENST00000229395.3																			0				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(577-579)gaC>gaT		FGFR1 oncogene partner 2							82.0	76.0	78.0					12																	27116343		2203	4300	6503	SO:0001819	synonymous_variant	26127					cytoplasm		g.chr12:27116343C>T	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.579C>T	12.37:g.27116343C>T						FGFR1OP2_ENST00000327214.5_Silent_p.D155D	p.D193D	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN			6	921	+	Colorectal(261;0.0847)		193					Q6R955|Q8N5L7|Q9P034|Q9UFK8	Silent	SNP	ENST00000229395.3	37	c.579C>T	CCDS8709.1																																																																																				0.388	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633		10	40	0	0	0	1	0	10	40				
TUBGCP4	27229	broad.mit.edu	37	15	43668716	43668716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:43668716C>T	ENST00000260383.7	+	3	477	c.223C>T	c.(223-225)Caa>Taa	p.Q75*	TUBGCP4_ENST00000399460.3_5'Flank|TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.Q75*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	75					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CCATCCATCTCAACAGGGCCA	0.473											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(223-225)Caa>Taa		tubulin, gamma complex associated protein 4							154.0	145.0	148.0					15																	43668716		1884	4122	6006	SO:0001587	stop_gained	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43668716C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.223C>T	15.37:g.43668716C>T	ENSP00000260383:p.Gln75*		OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	918	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.Q75*	p.Q75*	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	3	463	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	75					B3KNK6|Q969X3|Q9NVF0	Nonsense_Mutation	SNP	ENST00000260383.7	37	c.223C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.839017	0.97877	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-16.6652	18.7035	0.91629	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000260383:Q75X	Q	+	1	0	TUBGCP4	41456008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.749000	0.94314	0.655000	0.94253	CAA		0.473	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		17	68	0	0	0	1	0	17	68				
NDST4	64579	broad.mit.edu	37	4	115751020	115751020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:115751020G>A	ENST00000264363.2	-	13	3103	c.2425C>T	c.(2425-2427)Caa>Taa	p.Q809*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	809	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCAGTAATTGACACCAAAAA	0.348																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2425-2427)Caa>Taa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							84.0	84.0	84.0					4																	115751020		2203	4300	6503	SO:0001587	stop_gained	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115751020G>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2425C>T	4.37:g.115751020G>A	ENSP00000264363:p.Gln809*						p.Q809*	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	13	3103	-		Ovarian(17;0.156)	809			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Nonsense_Mutation	SNP	ENST00000264363.2	37	c.2425C>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	45	12.044705	0.99630	.	.	ENSG00000138653	ENST00000264363	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	19.951	0.97199	0.0:0.0:1.0:0.0	.	.	.	.	X	809	.	ENSP00000264363:Q809X	Q	-	1	0	NDST4	115970469	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.292000	0.96076	2.782000	0.95742	0.637000	0.83480	CAA		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		14	28	0	0	0	1	0	14	28				
HUWE1	10075	broad.mit.edu	37	X	53560286	53560286	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:53560286C>T	ENST00000342160.3	-	83	13566	c.13109G>A	c.(13108-13110)gGc>gAc	p.G4370D	HUWE1_ENST00000262854.6_Missense_Mutation_p.G4370D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4370	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGCCCAAAGCCTTCAGAGCA	0.488																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(13108-13110)gGc>gAc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							40.0	36.0	37.0					X																	53560286		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560286C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13109G>A	X.37:g.53560286C>T	ENSP00000340648:p.Gly4370Asp					HUWE1_ENST00000262854.6_Missense_Mutation_p.G4370D	p.G4370D			Q7Z6Z7	HUWE1_HUMAN			83	13566	-			4370			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.13109G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872025	0.33069	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.62788	0.0;0.0	5.41	4.55	0.56014	HECT (3);	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	H	0.97315	3.98	0.80722	D	1	B;B	0.17465	0.015;0.022	B;B	0.20577	0.03;0.018	T	0.72243	-0.4350	10	0.24483	T	0.36	.	12.5596	0.56273	0.0:0.9155:0.0:0.0845	.	4370;4354	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	D	4370	ENSP00000340648:G4370D;ENSP00000262854:G4370D	ENSP00000262854:G4370D	G	-	2	0	HUWE1	53577011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.096000	0.76960	1.173000	0.42796	0.513000	0.50165	GGC		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	6	0	0	0	1	0	3	6				
NHP2L1	4809	broad.mit.edu	37	22	42070954	42070954	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:42070954C>T	ENST00000401959.1	-	4	686	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	NHP2L1_ENST00000402458.1_Missense_Mutation_p.E128K|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.E124K|NHP2L1_ENST00000215956.5_Missense_Mutation_p.E124K	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	124					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						AAGAGCCTTTCAATGGACTGC	0.512																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(370-372)Gaa>Aaa		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							77.0	74.0	75.0					22																	42070954		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.chr22:42070954C>T		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.370G>A	22.37:g.42070954C>T	ENSP00000383949:p.Glu124Lys					NHP2L1_ENST00000355257.3_Missense_Mutation_p.E124K|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.E124K|NHP2L1_ENST00000402458.1_Missense_Mutation_p.E128K	p.E124K	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	686	-			124						Missense_Mutation	SNP	ENST00000401959.1	37	c.370G>A	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158174	0.78114	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.57595	0.4;0.4;0.4;0.39	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	H	0.95917	3.74	0.80722	D	1	B	0.24186	0.099	B	0.24701	0.055	T	0.72937	-0.4140	10	0.42905	T	0.14	.	19.3857	0.94555	0.0:1.0:0.0:0.0	.	124	P55769	NH2L1_HUMAN	K	124;124;124;128	ENSP00000347401:E124K;ENSP00000215956:E124K;ENSP00000383949:E124K;ENSP00000383989:E128K	ENSP00000215956:E124K	E	-	1	0	NHP2L1	40400900	1.000000	0.71417	0.967000	0.41034	0.640000	0.38277	7.361000	0.79497	2.662000	0.90505	0.585000	0.79938	GAA		0.512	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		4	88	0	0	0	1	0	4	88				
NIPBL	25836	broad.mit.edu	37	5	37051937	37051937	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:37051937G>A	ENST00000282516.8	+	41	7510	c.7011G>A	c.(7009-7011)aaG>aaA	p.K2337K	NIPBL_ENST00000448238.2_Silent_p.K2337K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2337					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7009-7011)aaG>aaA		Nipped-B homolog (Drosophila)							84.0	89.0	87.0					5																	37051937		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051937G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7011G>A	5.37:g.37051937G>A						NIPBL_ENST00000448238.2_Silent_p.K2337K	p.K2337K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7510	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2337					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.7011G>A	CCDS3920.1																																																																																				0.318	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		11	44	0	0	0	1	0	11	44				
TLR5	7100	broad.mit.edu	37	1	223285720	223285720	+	Silent	SNP	T	T	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:223285720T>C	ENST00000540964.1	-	4	1115	c.654A>G	c.(652-654)aaA>aaG	p.K218K	TLR5_ENST00000342210.6_Silent_p.K218K			O60602	TLR5_HUMAN	toll-like receptor 5	218					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGTTCATACATTTTCCCCAGT	0.458																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(652-654)aaA>aaG		toll-like receptor 5							75.0	71.0	72.0					1																	223285720		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285720T>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.654A>G	1.37:g.223285720T>C						TLR5_ENST00000342210.6_Silent_p.K218K	p.K218K			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1115	-			218					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.654A>G	CCDS31033.1																																																																																				0.458	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		14	87	0	0	0	1	0	14	87				
ZCCHC16	340595	broad.mit.edu	37	X	111698734	111698734	+	Nonsense_Mutation	SNP	C	C	T	rs139116920	byFrequency	TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:111698734C>T	ENST00000340433.2	+	1	1008	c.778C>T	c.(778-780)Cga>Tga	p.R260*		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	260							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R260G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TATACAGCTGCGAGAAGGCCA	0.552													C|||	1	0.000264901	0.0008	0.0	3775	,	,		11554	0.0		0.0	False		,,,				2504	0.0					ENST00000340433.2																			1	Substitution - Missense(1)	p.R260G(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(778-780)Cga>Tga		zinc finger, CCHC domain containing 16		C	stop/ARG	2,3833		0,1,1,1631,570	99.0	100.0	99.0		778	2.3	0.0	X	dbSNP_134	99	1,6727		0,1,0,2427,1872	no	stop-gained	ZCCHC16	NM_001004308.2		0,2,1,4058,2442	TT,TC,T,CC,C		0.0149,0.0522,0.0284		260/311	111698734	3,10560	2203	4300	6503	SO:0001587	stop_gained	340595						nucleic acid binding|zinc ion binding	g.chrX:111698734C>T	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.778C>T	X.37:g.111698734C>T	ENSP00000340590:p.Arg260*						p.R260*	NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN			1	1008	+			260					B2RPG1	Nonsense_Mutation	SNP	ENST00000340433.2	37	c.778C>T	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329797	0.60743	5.22E-4	1.49E-4	ENSG00000187823	ENST00000340433	.	.	.	4.12	2.33	0.28932	.	0.517494	0.14490	N	0.316395	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-4.3893	8.4171	0.32678	0.4257:0.5743:0.0:0.0	.	.	.	.	X	260	.	ENSP00000340590:R260X	R	+	1	2	ZCCHC16	111585390	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.135000	0.15952	0.507000	0.28148	-0.255000	0.11280	CGA		0.552	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		47	114	0	0	0	1	0	47	114				
TMEM215	401498	broad.mit.edu	37	9	32784684	32784684	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:32784684C>T	ENST00000342743.5	+	2	868	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	168						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TACTGCCCCTCGGGCAGTTCC	0.587																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(502-504)tCg>tTg		transmembrane protein 215							52.0	48.0	49.0					9																	32784684		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784684C>T		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.503C>T	9.37:g.32784684C>T	ENSP00000345468:p.Ser168Leu						p.S168L	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	868	+			168					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.503C>T	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920509	0.33908	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.82	5.82	0.92795	.	0.214550	0.32015	N	0.006705	T	0.65481	0.2695	N	0.24115	0.695	0.42046	D	0.991099	D	0.89917	1.0	D	0.81914	0.995	T	0.68006	-0.5523	9	0.59425	D	0.04	-6.4636	17.5939	0.88005	0.0:1.0:0.0:0.0	.	168	Q68D42	TM215_HUMAN	L	168	.	ENSP00000345468:S168L	S	+	2	0	TMEM215	32774684	0.904000	0.30761	0.598000	0.28837	0.284000	0.27059	2.821000	0.48065	2.760000	0.94817	0.655000	0.94253	TCG		0.587	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		11	44	0	0	0	1	0	11	44				
CNTNAP1	8506	broad.mit.edu	37	17	40845455	40845455	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:40845455C>T	ENST00000264638.4	+	18	3110	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	965	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCCCACCCTCGGCTCCCCTG	0.612																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2893-2895)Cgg>Tgg		contactin associated protein 1							88.0	86.0	87.0					17																	40845455		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40845455C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2893C>T	17.37:g.40845455C>T	ENSP00000264638:p.Arg965Trp					CTD-3193K9.3_ENST00000592440.1_RNA	p.R965W	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	18	3110	+		Breast(137;0.000143)	965			EGF-like 2.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2893C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563461	0.45694	.	.	ENSG00000108797	ENST00000264638	T	0.76968	-1.06	5.69	0.687	0.18020	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.226096	0.30320	N	0.009896	T	0.65780	0.2724	N	0.14661	0.345	0.09310	N	1	D	0.57571	0.98	P	0.48738	0.588	T	0.63070	-0.6719	10	0.87932	D	0	.	10.8439	0.46733	0.4418:0.4951:0.0:0.0631	.	965	P78357	CNTP1_HUMAN	W	965	ENSP00000264638:R965W	ENSP00000264638:R965W	R	+	1	2	CNTNAP1	38098981	0.068000	0.21057	0.773000	0.31616	0.330000	0.28571	1.057000	0.30492	0.290000	0.22444	-0.314000	0.08810	CGG		0.612	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		26	108	0	0	0	1	0	26	108				
GRAMD1A	57655	broad.mit.edu	37	19	35501007	35501007	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:35501007G>A	ENST00000317991.5	+	5	529	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.A106T|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.A113T|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.A200T|GRAMD1A_ENST00000504615.2_5'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	113	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTACTCCTGCGCCCTGCAGCG	0.652																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(598-600)Gcc>Acc		GRAM domain containing 1A							85.0	91.0	89.0					19																	35501007		1954	4124	6078	SO:0001583	missense	57655					integral to membrane		g.chr19:35501007G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.337G>A	19.37:g.35501007G>A	ENSP00000441032:p.Ala113Thr					GRAMD1A_ENST00000424536.2_Missense_Mutation_p.A113T|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.A106T|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.A113T|GRAMD1A_ENST00000598073.1_3'UTR	p.A200T			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		6	669	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		113					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.598G>A	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	36	5.630912	0.96682	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.86497	-2.13;-2.13	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.94231	0.8148	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.975;0.999;1.0;0.984	D	0.94737	0.7915	10	0.87932	D	0	.	16.6817	0.85294	0.0:0.0:1.0:0.0	.	113;113;106;200	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	T	200;113;106	ENSP00000441032:A113T;ENSP00000439267:A106T	ENSP00000441032:A113T	A	+	1	0	GRAMD1A	40192847	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.462000	0.97649	2.793000	0.96121	0.655000	0.94253	GCC		0.652	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		5	142	0	0	0	1	0	5	142				
NR1H2	7376	broad.mit.edu	37	19	50881514	50881514	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:50881514T>C	ENST00000253727.5	+	5	525	c.290T>C	c.(289-291)tTc>tCc	p.F97S	NR1H2_ENST00000598168.1_Missense_Mutation_p.F97S|NR1H2_ENST00000593926.1_Missense_Mutation_p.F97S|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Missense_Mutation_p.F97S	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	97					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCTCCGGCTTCCACTACAAC	0.657																																						ENST00000253727.5																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(289-291)tTc>tCc		nuclear receptor subfamily 1, group H, member 2							95.0	111.0	105.0					19																	50881514		2190	4298	6488	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881514T>C	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.290T>C	19.37:g.50881514T>C	ENSP00000253727:p.Phe97Ser					NR1H2_ENST00000598168.1_Missense_Mutation_p.F97S|NR1H2_ENST00000593926.1_Missense_Mutation_p.F97S|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Missense_Mutation_p.F97S|NR1H2_ENST00000542413.1_5'UTR	p.F97S	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	525	+		all_neural(266;0.057)	97					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.290T>C	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361630	0.82353	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.97186	-4.28	4.74	4.74	0.60224	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.64402	D	0.000005	D	0.98239	0.9417	M	0.85373	2.75	0.80722	D	1	P;P	0.46987	0.888;0.782	P;P	0.62382	0.901;0.579	D	0.99184	1.0868	10	0.87932	D	0	.	13.6495	0.62301	0.0:0.0:0.0:1.0	.	97;97	P55055;F1D8P7	NR1H2_HUMAN;.	S	97	ENSP00000253727:F97S	ENSP00000253727:F97S	F	+	2	0	NR1H2	55573326	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	5.651000	0.67951	2.127000	0.65507	0.459000	0.35465	TTC		0.657	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			58	258	0	0	0	1	0	58	258				
RNF144A	9781	broad.mit.edu	37	2	7179775	7179775	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:7179775G>T	ENST00000320892.6	+	9	1205	c.763G>T	c.(763-765)Gca>Tca	p.A255S	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	255					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GGGCATTTTTGCAGGATTTGG	0.507																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(763-765)Gca>Tca		ring finger protein 144A							221.0	204.0	210.0					2																	7179775		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7179775G>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.763G>T	2.37:g.7179775G>T	ENSP00000321330:p.Ala255Ser					RNF144A_ENST00000467276.1_3'UTR	p.A255S	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	9	1205	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	255					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.763G>T	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955924	0.92726	.	.	ENSG00000151692	ENST00000320892	T	0.23147	1.92	5.01	5.01	0.66863	Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	L	0.42245	1.32	0.80722	D	1	P	0.46656	0.882	P	0.45428	0.48	T	0.08973	-1.0696	10	0.72032	D	0.01	.	18.7372	0.91759	0.0:0.0:1.0:0.0	.	255	P50876	R144A_HUMAN	S	255	ENSP00000321330:A255S	ENSP00000321330:A255S	A	+	1	0	RNF144A	7097226	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.198000	0.94994	2.486000	0.83907	0.549000	0.68633	GCA		0.507	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		28	121	1	0	9.65963e-10	1	9.97896e-10	28	121				
PPFIA3	8541	broad.mit.edu	37	19	49643235	49643235	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:49643235C>G	ENST00000334186.4	+	18	2607	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C	PPFIA3_ENST00000602351.1_Missense_Mutation_p.S753C	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	753					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACCCCAGATTCTCTGCACAAA	0.562																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2257-2259)tCt>tGt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							113.0	111.0	112.0					19																	49643235		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49643235C>G	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2258C>G	19.37:g.49643235C>G	ENSP00000335614:p.Ser753Cys					PPFIA3_ENST00000602351.1_Missense_Mutation_p.S753C	p.S753C	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	18	2607	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	753					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2258C>G	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	c	15.34	2.805214	0.50315	.	.	ENSG00000177380	ENST00000334186	T	0.26957	1.7	4.17	4.17	0.49024	.	0.486799	0.16372	U	0.217263	T	0.51719	0.1691	M	0.81497	2.545	0.80722	D	1	D;P	0.57899	0.981;0.82	D;P	0.63381	0.914;0.56	T	0.59306	-0.7479	10	0.87932	D	0	-3.4051	15.6306	0.76906	0.0:1.0:0.0:0.0	.	753;753	O75145-2;O75145	.;LIPA3_HUMAN	C	753	ENSP00000335614:S753C	ENSP00000335614:S753C	S	+	2	0	PPFIA3	54335047	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	7.712000	0.84684	2.041000	0.60428	0.450000	0.29827	TCT		0.562	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		34	99	0	0	0	1	0	34	99				
NIPBL	25836	broad.mit.edu	37	5	37051941	37051941	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:37051941G>A	ENST00000282516.8	+	41	7514	c.7015G>A	c.(7015-7017)Gat>Aat	p.D2339N	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2339N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2339					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACAAGGCTGATCAGCAACT	0.323																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7015-7017)Gat>Aat		Nipped-B homolog (Drosophila)							85.0	90.0	88.0					5																	37051941		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051941G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7015G>A	5.37:g.37051941G>A	ENSP00000282516:p.Asp2339Asn					NIPBL_ENST00000448238.2_Missense_Mutation_p.D2339N	p.D2339N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7514	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2339					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7015G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259498	0.95368	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.64803	-0.12;-0.12	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.992	T	0.77202	-0.2674	10	0.28530	T	0.3	-14.3721	19.8167	0.96571	0.0:0.0:1.0:0.0	.	2339;2339;2339	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	N	2339	ENSP00000282516:D2339N;ENSP00000406266:D2339N	ENSP00000282516:D2339N	D	+	1	0	NIPBL	37087698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.685000	0.91497	0.557000	0.71058	GAT		0.323	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		11	45	0	0	0	1	0	11	45				
CLIC6	54102	broad.mit.edu	37	21	36081714	36081714	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr21:36081714C>G	ENST00000360731.3	+	6	1831	c.1831C>G	c.(1831-1833)Ctg>Gtg	p.L611V	CLIC6_ENST00000349499.2_Missense_Mutation_p.L593V			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	611	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AAATAGCCCTCTGCCTGATGA	0.468																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1831-1833)Ctg>Gtg		chloride intracellular channel 6							129.0	120.0	123.0					21																	36081714		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36081714C>G	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1831C>G	21.37:g.36081714C>G	ENSP00000353959:p.Leu611Val					CLIC6_ENST00000349499.2_Missense_Mutation_p.L593V	p.L611V			Q96NY7	CLIC6_HUMAN			6	1831	+			611			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.1831C>G		.	.	.	.	.	.	.	.	.	.	C	15.01	2.706010	0.48412	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	6.17	5.29	0.74685	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.96439	0.8838	M	0.86097	2.795	0.51482	D	0.999929	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	D	0.96493	0.9365	10	0.72032	D	0.01	3.5542	9.9313	0.41523	0.0:0.81:0.0:0.19	.	611;593	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	V	611;593	ENSP00000353959:L611V;ENSP00000290332:L593V	ENSP00000290332:L593V	L	+	1	2	CLIC6	35003584	0.002000	0.14202	0.993000	0.49108	0.414000	0.31173	0.061000	0.14366	1.627000	0.50400	0.655000	0.94253	CTG		0.468	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			5	64	0	0	0	1	0	5	64				
LIMS1	3987	broad.mit.edu	37	2	109276203	109276203	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:109276203G>A	ENST00000393310.1	+	2	306	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	LIMS1_ENST00000410093.1_Missense_Mutation_p.E51K|LIMS1_ENST00000332345.6_Missense_Mutation_p.E47K|LIMS1_ENST00000544547.1_Missense_Mutation_p.E59K|LIMS1_ENST00000542845.1_Missense_Mutation_p.E109K|LIMS1_ENST00000338045.3_Missense_Mutation_p.E47K|LIMS1_ENST00000393314.2_Missense_Mutation_p.E109K|LIMS1_ENST00000409441.1_Missense_Mutation_p.E84K|LIMS1_ENST00000462817.1_3'UTR	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	47	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GCAGTTCCCAGAAGGACTCTT	0.577																																						ENST00000393310.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						c.(139-141)Gaa>Aaa		LIM and senescent cell antigen-like domains 1							53.0	43.0	46.0					2																	109276203		2202	4292	6494	SO:0001583	missense	3987				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr2:109276203G>A		CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.139G>A	2.37:g.109276203G>A	ENSP00000376987:p.Glu47Lys					LIMS1_ENST00000409441.1_Missense_Mutation_p.E84K|LIMS1_ENST00000544547.1_Missense_Mutation_p.E59K|LIMS1_ENST00000332345.6_Missense_Mutation_p.E47K|LIMS1_ENST00000338045.3_Missense_Mutation_p.E47K|LIMS1_ENST00000542845.1_Missense_Mutation_p.E109K|LIMS1_ENST00000393314.2_Missense_Mutation_p.E109K|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000410093.1_Missense_Mutation_p.E51K	p.E47K	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN			2	306	+			47			LIM zinc-binding 1.		B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	c.139G>A	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549026	0.86127	.	.	ENSG00000169756	ENST00000544547;ENST00000428064;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845;ENST00000393314	D;D;D;D;D;D;D;D;D	0.87412	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.25	4.49	4.49	0.54785	Zinc finger, LIM-type (4);	0.333888	0.23805	N	0.044394	D	0.85173	0.5636	L	0.28694	0.88	0.80722	D	1	P;P;B;B	0.41848	0.763;0.589;0.436;0.436	P;B;B;B	0.46208	0.507;0.405;0.41;0.315	D	0.87535	0.2455	10	0.72032	D	0.01	.	17.3677	0.87367	0.0:0.0:1.0:0.0	.	109;84;47;59	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	K	59;59;47;47;51;84;47;109;109	ENSP00000437912:E59K;ENSP00000390862:E59K;ENSP00000331775:E47K;ENSP00000376987:E47K;ENSP00000386926:E51K;ENSP00000387264:E84K;ENSP00000337598:E47K;ENSP00000446121:E109K;ENSP00000376990:E109K	ENSP00000331775:E47K	E	+	1	0	LIMS1	108642635	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.259000	0.95561	2.323000	0.78572	0.462000	0.41574	GAA		0.577	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987		13	50	0	0	0	1	0	13	50				
CAPN3	825	broad.mit.edu	37	15	42694331	42694331	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:42694331G>C	ENST00000397163.3	+	12	1753	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	CAPN3_ENST00000561817.1_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.E425Q|CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000318023.7_Intron|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000349748.3_Missense_Mutation_p.E464Q|CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000357568.3_Missense_Mutation_p.E512Q|CAPN3_ENST00000397204.4_5'Flank|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	512	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GGTTCCCAAAGAGGTATAGCA	0.572																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1534-1536)Gag>Cag		calpain 3, (p94)							106.0	105.0	105.0					15																	42694331		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42694331G>C	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1534G>C	15.37:g.42694331G>C	ENSP00000380349:p.Glu512Gln					CAPN3_ENST00000357568.3_Missense_Mutation_p.E512Q|CAPN3_ENST00000356316.3_Missense_Mutation_p.E425Q|CAPN3_ENST00000349748.3_Missense_Mutation_p.E464Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Intron	p.E512Q	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	12	1753	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	512			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1534G>C	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402584	0.42613	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.26	4.26	0.50523	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.174846	0.36778	U	0.002414	D	0.86079	0.5847	L	0.45698	1.435	0.80722	D	1	B;B;B;B;B;B	0.15141	0.001;0.005;0.0;0.001;0.012;0.01	B;B;B;B;B;B	0.27380	0.019;0.072;0.004;0.026;0.079;0.053	T	0.83194	-0.0082	10	0.42905	T	0.14	.	14.3287	0.66537	0.0:0.0:1.0:0.0	.	377;425;464;512;512;425	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	Q	425;512;512;464	ENSP00000348667:E425Q;ENSP00000380349:E512Q;ENSP00000350181:E512Q;ENSP00000183936:E464Q	ENSP00000183936:E464Q	E	+	1	0	CAPN3	40481623	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.983000	0.70540	2.369000	0.80426	0.563000	0.77884	GAG		0.572	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			4	162	0	0	0	1	0	4	162				
HPS4	89781	broad.mit.edu	37	22	26860540	26860540	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:26860540G>A	ENST00000398145.2	-	11	1672	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	HPS4_ENST00000336873.5_Silent_p.L352L|HPS4_ENST00000398141.1_Silent_p.L365L|HPS4_ENST00000402105.3_Silent_p.L347L|HPS4_ENST00000493455.2_5'Flank	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	352					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGGAGGAGCTGAGGCCAAGAA	0.552									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1054-1056)ctC>ctT		Hermansky-Pudlak syndrome 4							72.0	70.0	71.0					22																	26860540		2203	4300	6503	SO:0001819	synonymous_variant	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860540G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1056C>T	22.37:g.26860540G>A						HPS4_ENST00000402105.3_Silent_p.L347L|HPS4_ENST00000336873.5_Silent_p.L352L|HPS4_ENST00000398141.1_Silent_p.L365L	p.L352L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	1672	-			352					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	c.1056C>T	CCDS13835.1																																																																																				0.552	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		20	88	0	0	0	1	0	20	88				
GLOD4	51031	broad.mit.edu	37	17	686360	686360	+	5'Flank	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:686360G>A	ENST00000301328.5	-	0	0				GLOD4_ENST00000536578.1_5'Flank|RNMTL1_ENST00000304478.4_Missense_Mutation_p.E118K|GLOD4_ENST00000301329.6_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCCATTTCGGGAAAAACAAGG	0.423																																						ENST00000304478.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(352-354)Gaa>Aaa		RNA methyltransferase like 1							81.0	76.0	78.0					17																	686360		2203	4300	6503	SO:0001631	upstream_gene_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:686360G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.686360G>A	Exception_encountered						p.E118K	NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	2	458	+			118					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.352G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.592789|5.592789	0.96602|0.96602	.|.	.|.	ENSG00000171861|ENSG00000167699	ENST00000304478|ENST00000397393	T|.	0.41400|.	1.0|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.201658|.	0.50627|.	D|.	0.000106|.	T|T	0.63651|0.63651	0.2529|0.2529	L|L	0.38175|0.38175	1.15|1.15	0.54753|0.54753	D|D	0.999988|0.999988	P|.	0.34757|.	0.467|.	B|.	0.35550|.	0.205|.	T|T	0.66444|0.66444	-0.5922|-0.5922	10|6	0.45353|0.87932	T|D	0.12|0	-13.5696|-13.5696	18.1755|18.1755	0.89760|0.89760	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	118|.	Q9HC36|.	RMTL1_HUMAN|.	K|F	118|49	ENSP00000306080:E118K|.	ENSP00000306080:E118K|ENSP00000380548:S49F	E|S	+|-	1|2	0|0	RNMTL1|GLOD4	633110|633110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.545000|9.545000	0.98095|0.98095	2.542000|2.542000	0.85734|0.85734	0.650000|0.650000	0.86243|0.86243	GAA|TCC		0.423	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		16	71	0	0	0	1	0	16	71				
SAMD14	201191	broad.mit.edu	37	17	48195580	48195580	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:48195580C>T	ENST00000330175.4	-	3	472	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	SAMD14_ENST00000503131.1_Missense_Mutation_p.R52Q|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	52										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGCACTGTCCCGAAGCCTGGA	0.642																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(154-156)cGg>cAg		sterile alpha motif domain containing 14							48.0	51.0	50.0					17																	48195580		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48195580C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.155G>A	17.37:g.48195580C>T	ENSP00000329144:p.Arg52Gln					SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R52Q	p.R52Q	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			3	472	-			52					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.155G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389396	0.82902	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000021	T	0.74543	0.3730	L	0.56769	1.78	0.41066	D	0.985416	D;D	0.76494	0.999;0.999	P;D	0.77557	0.884;0.99	T	0.71227	-0.4655	9	0.26408	T	0.33	-18.9393	15.8415	0.78848	0.0:1.0:0.0:0.0	.	52;52	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	Q	52;64;52	.	ENSP00000285206:R64Q	R	-	2	0	SAMD14	45550579	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	4.866000	0.63005	2.461000	0.83175	0.557000	0.71058	CGG		0.642	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		26	87	0	0	0	1	0	26	87				
STXBP5L	9515	broad.mit.edu	37	3	121126200	121126200	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:121126200G>A	ENST00000273666.6	+	24	3041	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	STXBP5L_ENST00000471454.1_Missense_Mutation_p.E900K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E924K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E898K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E900K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	924					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAACATAGATGAAAATGAAAA	0.393																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2770-2772)Gaa>Aaa		syntaxin binding protein 5-like							87.0	83.0	85.0					3																	121126200		1834	4085	5919	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126200G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2770G>A	3.37:g.121126200G>A	ENSP00000273666:p.Glu924Lys					STXBP5L_ENST00000472879.1_Missense_Mutation_p.E900K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E924K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E900K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E898K	p.E924K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	3041	+			924					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2770G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583714	0.65992	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.69	4.69	0.59074	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.070792	0.52532	D	0.000066	T	0.21962	0.0529	L	0.49126	1.545	0.54753	D	0.999986	P;P	0.42010	0.768;0.768	B;B	0.40134	0.223;0.32	T	0.03887	-1.0995	10	0.12766	T	0.61	-21.8644	18.1729	0.89752	0.0:0.0:1.0:0.0	.	900;924	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	K	924;900;900;898;924;867	ENSP00000273666:E924K;ENSP00000420019:E900K;ENSP00000419627:E900K;ENSP00000420287:E898K;ENSP00000420666:E924K;ENSP00000420167:E867K	ENSP00000273666:E924K	E	+	1	0	STXBP5L	122608890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.208000	0.95075	2.602000	0.87976	0.650000	0.86243	GAA		0.393	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			6	50	0	0	0	1	0	6	50				
SSSCA1	10534	broad.mit.edu	37	11	65338432	65338432	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:65338432G>A	ENST00000309328.3	+	3	309	c.247G>A	c.(247-249)Gat>Aat	p.D83N	FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000526877.1_Silent_p.K77K|SSSCA1_ENST00000531405.1_Missense_Mutation_p.D46N|FAM89B_ENST00000449319.2_5'Flank|SSSCA1_ENST00000527920.1_Missense_Mutation_p.D46N|FAM89B_ENST00000316409.2_5'Flank|SSSCA1-AS1_ENST00000567594.1_RNA	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	83	Asp/Glu-rich (acidic).				mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CGTGGATAAAGATAATCCCGG	0.522																																						ENST00000531405.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(136-138)Gat>Aat		Sjogren syndrome/scleroderma autoantigen 1							50.0	55.0	54.0					11																	65338432		2201	4296	6497	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65338432G>A	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.247G>A	11.37:g.65338432G>A	ENSP00000312318:p.Asp83Asn					SSSCA1_ENST00000527920.1_Missense_Mutation_p.D46N|SSSCA1_ENST00000309328.3_Missense_Mutation_p.D83N|SSSCA1_ENST00000526877.1_Silent_p.K77K	p.D46N			O60232	SSA27_HUMAN			2	372	+			83						Missense_Mutation	SNP	ENST00000309328.3	37	c.136G>A	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	G	33	5.257308	0.95368	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000527920;ENST00000533115	T;T	0.49139	0.79;0.79	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67590	0.2909	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70414	-0.4878	10	0.87932	D	0	-12.9368	16.7003	0.85348	0.0:0.0:1.0:0.0	.	83	O60232	SSA27_HUMAN	N	83;46;46;77	ENSP00000312318:D83N;ENSP00000435432:D77N	ENSP00000312318:D83N	D	+	1	0	SSSCA1	65095008	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.120000	0.89581	2.543000	0.85770	0.561000	0.74099	GAT		0.522	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		11	29	0	0	0	1	0	11	29				
SCN9A	6335	broad.mit.edu	37	2	167055739	167055739	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:167055739C>T	ENST00000409435.1	-	26	5409	c.5410G>A	c.(5410-5412)Gat>Aat	p.D1804N	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1805N|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1793N|SCN9A_ENST00000375387.4_Missense_Mutation_p.D1805N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1804					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGCAAAATCAGAGAGTTTA	0.473																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5413-5415)Gat>Aat		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						105.0	111.0	109.0					2																	167055739		2203	4298	6501	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055739C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5410G>A	2.37:g.167055739C>T	ENSP00000386330:p.Asp1804Asn					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1793N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D1804N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1805N	p.D1805N			Q15858	SCN9A_HUMAN			27	5753	-			1804					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5413G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781585	0.49891	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000008	T	0.17619	0.0423	L	0.49778	1.585	0.80722	D	1	B	0.26363	0.147	B	0.33960	0.173	T	0.02009	-1.1230	10	0.56958	D	0.05	.	19.9601	0.97247	0.0:1.0:0.0:0.0	.	1793	E7EUN6	.	N	1793;1805;1805;1804	ENSP00000386306:D1793N;ENSP00000364536:D1805N;ENSP00000304748:D1805N;ENSP00000386330:D1804N	ENSP00000304748:D1805N	D	-	1	0	SCN9A	166763985	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.689000	0.84165	2.720000	0.93068	0.655000	0.94253	GAT		0.473	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		35	114	0	0	0	1	0	35	114				
DOPEY2	9980	broad.mit.edu	37	21	37603425	37603425	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr21:37603425G>A	ENST00000399151.3	+	14	2428	c.2343G>A	c.(2341-2343)caG>caA	p.Q781Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	781					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGCTCTTCCAGCTGCCAGGTG	0.587																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2341-2343)caG>caA		dopey family member 2							38.0	35.0	36.0					21																	37603425		2159	4255	6414	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37603425G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2343G>A	21.37:g.37603425G>A							p.Q781Q	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			14	2428	+			781					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.2343G>A	CCDS13643.1																																																																																				0.587	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		22	70	0	0	0	1	0	22	70				
CACNB3	784	broad.mit.edu	37	12	49219232	49219232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:49219232C>T	ENST00000301050.2	+	8	788	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	CACNB3_ENST00000547230.1_Nonsense_Mutation_p.Q156*|CACNB3_ENST00000547392.1_Nonsense_Mutation_p.Q170*|CACNB3_ENST00000540990.1_Nonsense_Mutation_p.Q184*|CACNB3_ENST00000536187.2_Nonsense_Mutation_p.Q196*	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	197					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGACATGATGCAGAAGGCTCT	0.567																																						ENST00000301050.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(589-591)Cag>Tag		calcium channel, voltage-dependent, beta 3 subunit	Verapamil(DB00661)						106.0	97.0	100.0					12																	49219232		2203	4300	6503	SO:0001587	stop_gained	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49219232C>T		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.589C>T	12.37:g.49219232C>T	ENSP00000301050:p.Gln197*					CACNB3_ENST00000540990.1_Nonsense_Mutation_p.Q184*|CACNB3_ENST00000547392.1_Nonsense_Mutation_p.Q170*|CACNB3_ENST00000547230.1_Nonsense_Mutation_p.Q156*|CACNB3_ENST00000536187.2_Nonsense_Mutation_p.Q196*	p.Q197*	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN			8	788	+			197					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Nonsense_Mutation	SNP	ENST00000301050.2	37	c.589C>T	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.106119	0.98657	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000550064;ENST00000547818;ENST00000547392;ENST00000301050;ENST00000547230	.	.	.	5.86	5.86	0.93980	.	0.051668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.2052	18.9438	0.92613	0.0:1.0:0.0:0.0	.	.	.	.	X	184;196;21;21;170;197;156	.	ENSP00000301050:Q197X	Q	+	1	0	CACNB3	47505499	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.733000	0.84916	2.768000	0.95171	0.655000	0.94253	CAG		0.567	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			4	119	0	0	0	1	0	4	119				
PLPPR5	163404	broad.mit.edu	37	1	99418842	99418842	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:99418842G>C	ENST00000263177.4	-	3	626	c.405C>G	c.(403-405)atC>atG	p.I135M	LPPR5_ENST00000370188.3_Missense_Mutation_p.I135M	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		135						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CATTTACAAAGATATCTGTAG	0.408																																						ENST00000370188.3																			0											c.(403-405)atC>atG									69.0	69.0	69.0					1																	99418842		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99418842G>C																												ENST00000263177.4:c.405C>G	1.37:g.99418842G>C	ENSP00000263177:p.Ile135Met					LPPR5_ENST00000263177.4_Missense_Mutation_p.I135M	p.I135M	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			3	765	-			135					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.405C>G	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035317	0.54896	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.42513	0.97;0.97	4.9	3.96	0.45880	.	0.114484	0.64402	D	0.000006	T	0.55210	0.1906	M	0.80508	2.5	0.43267	D	0.995211	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	T	0.62854	-0.6766	10	0.72032	D	0.01	.	11.6131	0.51072	0.0:0.0:0.6497:0.3503	.	135;135	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	135	ENSP00000359207:I135M;ENSP00000263177:I135M	ENSP00000263177:I135M	I	-	3	3	AL161744.1	99191430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.366000	0.34193	1.103000	0.41568	0.655000	0.94253	ATC		0.408	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			11	62	0	0	0	1	0	11	62				
CENPF	1063	broad.mit.edu	37	1	214815174	214815174	+	Missense_Mutation	SNP	G	G	C	rs368660042		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:214815174G>C	ENST00000366955.3	+	12	3661	c.3493G>C	c.(3493-3495)Gaa>Caa	p.E1165Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACTAAACATGAATGTCAAAA	0.318																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(3493-3495)Gaa>Caa		centromere protein F, 350/400kDa							54.0	57.0	56.0					1																	214815174		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815174G>C	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3493G>C	1.37:g.214815174G>C	ENSP00000355922:p.Glu1165Gln						p.E1165Q	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	3661	+			1237					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.3493G>C	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768886	0.49680	.	.	ENSG00000117724	ENST00000366955	T	0.03496	3.91	5.01	3.09	0.35607	.	0.408275	0.18007	N	0.154707	T	0.10981	0.0268	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.08889	-1.0700	9	0.39692	T	0.17	.	8.9843	0.35983	0.079:0.148:0.773:0.0	.	1165	P49454	CENPF_HUMAN	Q	1165	ENSP00000355922:E1165Q	ENSP00000355922:E1165Q	E	+	1	0	CENPF	212881797	0.010000	0.17322	0.001000	0.08648	0.085000	0.17905	1.396000	0.34531	0.600000	0.29862	-0.192000	0.12808	GAA		0.318	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		17	54	0	0	0	1	0	17	54				
SLC35E3	55508	broad.mit.edu	37	12	69140553	69140553	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:69140553C>T	ENST00000398004.2	+	1	668	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	132						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GAATCCAGCTCACGCTGGTGA	0.582																																						ENST00000398004.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(394-396)ctC>ctT		solute carrier family 35, member E3							80.0	85.0	83.0					12																	69140553		1936	4133	6069	SO:0001819	synonymous_variant	55508					integral to membrane		g.chr12:69140553C>T	AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.396C>T	12.37:g.69140553C>T							p.L132L	NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)		1	668	+	Breast(13;2.31e-06)|Renal(347;0.0684)		132					A8K0T0|Q0P5Y5|Q9P0V1	Silent	SNP	ENST00000398004.2	37	c.396C>T	CCDS41808.1																																																																																				0.582	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403241.1	NM_018656		31	126	0	0	0	1	0	31	126				
MROH5	389690	broad.mit.edu	37	8	142446099	142446099	+	RNA	SNP	C	C	G	rs372257824		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:142446099C>G	ENST00000606664.1	+	0	1455				MROH5_ENST00000430863.1_RNA																							CCGCTCAGCTCCCTGTCTGCC	0.687																																						ENST00000606664.1																			0																GLN/GLU	1,4293		0,1,2146	32.0	41.0	38.0		3469	-4.1	0.0	8		38	0,8454		0,0,4227	no	missense	FLJ43860	NM_207414.2	29	0,1,6373	GG,GC,CC		0.0,0.0233,0.0078	possibly-damaging	1157/1319	142446099	1,12747	2147	4227	6374			389690							g.chr8:142446099C>G																													8.37:g.142446099C>G						MROH5_ENST00000430863.1_RNA								0	1455	+									RNA	SNP	ENST00000606664.1	37																																																																																						0.687	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	antisense	OTTHUMT00000470872.1			6	58	0	0	0	1	0	6	58				
ABCG4	64137	broad.mit.edu	37	11	119031274	119031274	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:119031274C>T	ENST00000449422.2	+	14	1811	c.1623C>T	c.(1621-1623)acC>acT	p.T541T	ABCG4_ENST00000531739.1_Silent_p.T541T|ABCG4_ENST00000307417.3_Silent_p.T541T	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	541	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCCCAGTTACCGCCATCCCTG	0.567																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1621-1623)acC>acT		ATP-binding cassette, sub-family G (WHITE), member 4							232.0	218.0	223.0					11																	119031274		2200	4295	6495	SO:0001819	synonymous_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031274C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1623C>T	11.37:g.119031274C>T						ABCG4_ENST00000449422.2_Silent_p.T541T|ABCG4_ENST00000531739.1_Silent_p.T541T	p.T541T	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	14	1987	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	541			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	ENST00000449422.2	37	c.1623C>T	CCDS8415.1																																																																																				0.567	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		6	338	0	0	0	1	0	6	338				
ARHGAP15	55843	broad.mit.edu	37	2	143959724	143959724	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:143959724C>T	ENST00000295095.6	+	3	354	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.H63Y	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	63					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGAAGGAATCATTCACAGCA	0.299																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(187-189)Cat>Tat		Rho GTPase activating protein 15							120.0	119.0	119.0					2																	143959724		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143959724C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.187C>T	2.37:g.143959724C>T	ENSP00000295095:p.His63Tyr					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H63Y	p.H63Y			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	4	364	+			63					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.187C>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925094	0.34002	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.07567	3.18	5.61	5.61	0.85477	.	0.263520	0.38778	N	0.001580	T	0.06690	0.0171	L	0.27053	0.805	0.39009	D	0.959509	B;B	0.27068	0.167;0.0	B;B	0.25614	0.062;0.002	T	0.08953	-1.0697	10	0.02654	T	1	.	17.8083	0.88608	0.0:1.0:0.0:0.0	.	63;63	B4E0R3;Q53QZ3	.;RHG15_HUMAN	Y	63	ENSP00000295095:H63Y	ENSP00000295095:H63Y	H	+	1	0	ARHGAP15	143676194	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.000000	0.63940	2.646000	0.89796	0.585000	0.79938	CAT		0.299	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		15	54	0	0	0	1	0	15	54				
FRY	10129	broad.mit.edu	37	13	32752454	32752454	+	Silent	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:32752454C>G	ENST00000380250.3	+	21	3058	c.2562C>G	c.(2560-2562)ctC>ctG	p.L854L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	854						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTGGGTCCTCTGCCTCTTCA	0.547																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2560-2562)ctC>ctG		furry homolog (Drosophila)							105.0	115.0	112.0					13																	32752454		2199	4299	6498	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32752454C>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2562C>G	13.37:g.32752454C>G							p.L854L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	21	3058	+		Lung SC(185;0.0271)	854					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.2562C>G	CCDS41875.1																																																																																				0.547	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		5	148	0	0	0	1	0	5	148				
RARG	5916	broad.mit.edu	37	12	53621202	53621202	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:53621202C>A	ENST00000425354.2	-	3	615	c.128G>T	c.(127-129)aGc>aTc	p.S43I	RARG_ENST00000394426.1_Missense_Mutation_p.S43I|RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	43	Modulating.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAAGCTAGGGCTCAGCATCTC	0.632																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(127-129)aGc>aTc		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						48.0	52.0	51.0					12																	53621202		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53621202C>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.128G>T	12.37:g.53621202C>A	ENSP00000388510:p.Ser43Ile					RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.S43I	p.S43I	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			3	615	-			43			Modulating.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.128G>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611797	0.46631	.	.	ENSG00000172819	ENST00000425354;ENST00000394426	D;D	0.91945	-2.94;-2.94	4.85	4.85	0.62838	.	0.211541	0.37393	N	0.002118	D	0.85877	0.5799	L	0.27053	0.805	0.80722	D	1	B	0.29432	0.244	B	0.24541	0.054	D	0.84199	0.0449	10	0.48119	T	0.1	.	13.68	0.62479	0.0:1.0:0.0:0.0	.	43	P13631	RARG_HUMAN	I	43	ENSP00000388510:S43I;ENSP00000377947:S43I	ENSP00000377947:S43I	S	-	2	0	RARG	51907469	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.458000	0.45014	2.700000	0.92200	0.462000	0.41574	AGC		0.632	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		14	55	1	0	6.72482e-11	1	6.97596e-11	14	55				
HPD	3242	broad.mit.edu	37	12	122277703	122277703	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:122277703G>C	ENST00000289004.4	-	14	1148	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	HPD_ENST00000543163.1_Missense_Mutation_p.F332L	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	371					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCTCCTCCTCGAAAGCCTTGA	0.602																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(994-996)ttC>ttG		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						82.0	81.0	82.0					12																	122277703		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122277703G>C	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.1113C>G	12.37:g.122277703G>C	ENSP00000289004:p.Phe371Leu					HPD_ENST00000289004.4_Missense_Mutation_p.F371L	p.F332L	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	15	1441	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		371					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.996C>G	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127187	0.37533	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.66460	0.12;-0.21	5.47	1.02	0.19986	.	0.049441	0.85682	D	0.000000	T	0.36552	0.0971	N	0.04245	-0.25	0.37479	D	0.915935	B	0.02656	0.0	B	0.06405	0.002	T	0.10064	-1.0646	10	0.52906	T	0.07	-21.6096	3.5891	0.07982	0.36:0.0:0.3635:0.2765	.	371	P32754	HPPD_HUMAN	L	371;368;332	ENSP00000289004:F371L;ENSP00000441677:F332L	ENSP00000289004:F371L	F	-	3	2	HPD	120762086	0.964000	0.33143	0.965000	0.40720	0.476000	0.33039	0.103000	0.15292	0.278000	0.22164	-0.448000	0.05591	TTC		0.602	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		21	94	0	0	0	1	0	21	94				
CHFR	55743	broad.mit.edu	37	12	133435802	133435802	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:133435802C>G	ENST00000432561.2	-	8	872	c.799G>C	c.(799-801)Gac>Cac	p.D267H	CHFR_ENST00000315585.7_Missense_Mutation_p.D226H|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.D175H|CHFR_ENST00000450056.2_Missense_Mutation_p.D255H|CHFR_ENST00000266880.7_Missense_Mutation_p.D267H			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	267					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D226N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCGTTCAGGTCAAGGTCCCCA	0.552																																						ENST00000266880.7																			1	Substitution - Missense(1)	p.D226N(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(799-801)Gac>Cac		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase							172.0	124.0	141.0					12																	133435802		2203	4300	6503	SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133435802C>G	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.799G>C	12.37:g.133435802C>G	ENSP00000392395:p.Asp267His					CHFR_ENST00000443047.2_Missense_Mutation_p.D175H|CHFR_ENST00000315585.7_Missense_Mutation_p.D226H|CHFR_ENST00000450056.2_Missense_Mutation_p.D255H|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.D267H	p.D267H			Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	8	862	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	267					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.799G>C	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277819	0.23307	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.18960	2.44;2.18;2.46;2.19;2.45	4.16	-3.67	0.04476	.	1.127760	0.06465	N	0.730052	T	0.11537	0.0281	N	0.21448	0.665	0.09310	N	1	B;B;B;B;B	0.12630	0.005;0.005;0.003;0.005;0.006	B;B;B;B;B	0.20767	0.009;0.015;0.006;0.015;0.031	T	0.36768	-0.9734	10	0.46703	T	0.11	-5.6093	2.0727	0.03617	0.2145:0.1335:0.113:0.5391	.	175;267;267;255;226	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	H	226;175;255;267;67;267	ENSP00000320557:D226H;ENSP00000416431:D175H;ENSP00000398735:D255H;ENSP00000266880:D267H;ENSP00000392395:D267H	ENSP00000266880:D267H	D	-	1	0	CHFR	131945875	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.390000	0.07332	-0.437000	0.07243	0.549000	0.68633	GAC		0.552	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			25	115	0	0	0	1	0	25	115				
FAM209A	200232	broad.mit.edu	37	20	55100096	55100096	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:55100096G>C	ENST00000371328.3	+	1	555	c.232G>C	c.(232-234)Gac>Cac	p.D78H	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	78						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GTGTCAAAGAGACAGTGAGAA	0.453																																						ENST00000371328.3																			0											c.(232-234)Gac>Cac		family with sequence similarity 209, member A							134.0	127.0	129.0					20																	55100096		2203	4300	6503	SO:0001583	missense	200232							g.chr20:55100096G>C	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.232G>C	20.37:g.55100096G>C	ENSP00000360379:p.Asp78His					GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	p.D78H	NM_001012971.3	NP_001012989.2					1	555	+								Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	c.232G>C	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828824	0.16749	.	.	ENSG00000124103	ENST00000371328	T	0.15256	2.44	5.51	3.51	0.40186	.	0.527164	0.17218	N	0.182454	T	0.16854	0.0405	L	0.61218	1.895	0.09310	N	1	B	0.32031	0.352	B	0.29176	0.099	T	0.18967	-1.0320	10	0.72032	D	0.01	-13.119	6.7013	0.23227	0.0944:0.1818:0.7238:0.0	.	78	Q5JX71	CT106_HUMAN	H	78	ENSP00000360379:D78H	ENSP00000360379:D78H	D	+	1	0	C20orf106	54533503	0.889000	0.30405	0.034000	0.17996	0.013000	0.08279	1.857000	0.39399	1.276000	0.44395	0.467000	0.42956	GAC		0.453	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			25	109	0	0	0	1	0	25	109				
SEC16B	89866	broad.mit.edu	37	1	177915616	177915616	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:177915616C>T	ENST00000308284.6	-	14	1803	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.V573M	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	572					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCAAAGGGCACGTGAGCCATG	0.562											OREG0014008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(1714-1716)Gtg>Atg		SEC16 homolog B (S. cerevisiae)							25.0	28.0	27.0					1																	177915616		2058	4220	6278	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177915616C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1714G>A	1.37:g.177915616C>T	ENSP00000308339:p.Val572Met		OREG0014008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1942	SEC16B_ENST00000464631.1_Missense_Mutation_p.V573M|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	p.V572M	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			14	1803	-			572					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.1714G>A	CCDS44281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.84|12.84	2.060000|2.060000	0.36373|0.36373	.|.	.|.	ENSG00000120341|ENSG00000120341	ENST00000527976|ENST00000308284;ENST00000414025;ENST00000239472;ENST00000464631	.|T;T	.|0.54071	.|2.18;0.59	5.55|5.55	0.146|0.146	0.14833|0.14833	.|.	.|0.598895	.|0.16292	.|N	.|0.220861	T|T	0.54565|0.54565	0.1866|0.1866	L|L	0.50919|0.50919	1.6|1.6	0.27177|0.27177	N|N	0.960777|0.960777	.|D;D;D;D;D	.|0.64830	.|0.991;0.988;0.994;0.991;0.994	.|P;P;P;P;P	.|0.56042	.|0.782;0.69;0.79;0.701;0.79	T|T	0.49011|0.49011	-0.8983|-0.8983	5|10	.|0.59425	.|D	.|0.04	-2.8616|-2.8616	7.4965|7.4965	0.27492|0.27492	0.0:0.4672:0.3845:0.1482|0.0:0.4672:0.3845:0.1482	.|.	.|127;573;573;572;269	.|B1AM07;E9PK14;B1AM08;Q96JE7;Q96PW0	.|.;.;.;SC16B_HUMAN;.	H|M	155|572;256;287;573	.|ENSP00000308339:V572M;ENSP00000431727:V573M	.|ENSP00000239472:V287M	R|V	-|-	2|1	0|0	AL359075.1|AL359075.1	176182239|176182239	0.772000|0.772000	0.28567|0.28567	0.698000|0.698000	0.30274|0.30274	0.005000|0.005000	0.04900|0.04900	1.379000|1.379000	0.34340|0.34340	0.014000|0.014000	0.14944|0.14944	-0.502000|-0.502000	0.04539|0.04539	CGT|GTG		0.562	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		3	9	0	0	0	1	0	3	9				
SAMD14	201191	broad.mit.edu	37	17	48195607	48195607	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:48195607C>T	ENST00000330175.4	-	3	445	c.128G>A	c.(127-129)aGa>aAa	p.R43K	SAMD14_ENST00000503131.1_Missense_Mutation_p.R43K|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	43										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGGCCGGTGTCTCCGGCCCTT	0.657																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(127-129)aGa>aAa		sterile alpha motif domain containing 14							42.0	45.0	44.0					17																	48195607		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48195607C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.128G>A	17.37:g.48195607C>T	ENSP00000329144:p.Arg43Lys					SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R43K	p.R43K	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			3	445	-			43					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.128G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449431	0.96205	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000008	T	0.76601	0.4010	M	0.63843	1.955	0.45607	D	0.998541	B;D	0.61697	0.384;0.99	B;D	0.72982	0.112;0.979	T	0.78919	-0.2014	9	0.87932	D	0	-11.2916	15.8415	0.78848	0.0:1.0:0.0:0.0	.	43;43	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	K	43;55;43	.	ENSP00000285206:R55K	R	-	2	0	SAMD14	45550606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.737000	0.62066	2.461000	0.83175	0.557000	0.71058	AGA		0.657	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		24	76	0	0	0	1	0	24	76				
ARHGAP21	57584	broad.mit.edu	37	10	24874616	24874616	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr10:24874616C>T	ENST00000396432.2	-	26	5088	c.4602G>A	c.(4600-4602)caG>caA	p.Q1534Q		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1533					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGAGGACTTCTGTGCCAGAA	0.522																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4600-4602)caG>caA		Rho GTPase activating protein 21							133.0	129.0	130.0					10																	24874616		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874616C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4602G>A	10.37:g.24874616C>T							p.Q1534Q	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	5088	-			1533					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.4602G>A	CCDS7144.2																																																																																				0.522	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		6	194	0	0	0	1	0	6	194				
UGT3A1	133688	broad.mit.edu	37	5	35968190	35968190	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:35968190G>A	ENST00000274278.3	-	3	599	c.242C>T	c.(241-243)tCa>tTa	p.S81L	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S47L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S81L|UGT3A1_ENST00000333811.4_Missense_Mutation_p.S27L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	81						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTTCAGGTGAAAACCACCT	0.318																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(241-243)tCa>tTa		UDP glycosyltransferase 3 family, polypeptide A1							95.0	95.0	95.0					5																	35968190		2203	4299	6502	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35968190G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.242C>T	5.37:g.35968190G>A	ENSP00000274278:p.Ser81Leu					UGT3A1_ENST00000503189.1_Missense_Mutation_p.S81L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S47L|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.S27L	p.S81L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	599	-	all_lung(31;0.000197)		81					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.242C>T	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.029705	0.00410	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.62232	0.18;0.18;0.04;0.04	2.7	-2.16	0.07080	.	2.637790	0.02619	N	0.102974	T	0.49423	0.1556	L	0.35487	1.065	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.26326	-1.0106	10	0.15952	T	0.53	.	9.3043	0.37865	0.3291:0.0:0.6709:0.0	.	47;81;27;81	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	L	81;81;47;27	ENSP00000274278:S81L;ENSP00000427079:S81L;ENSP00000426100:S47L;ENSP00000328033:S27L	ENSP00000274278:S81L	S	-	2	0	UGT3A1	36003947	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.221000	0.02968	-1.379000	0.02118	-1.632000	0.00781	TCA		0.318	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		6	27	0	0	0	1	0	6	27				
PNMA5	114824	broad.mit.edu	37	X	152159374	152159374	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:152159374C>G	ENST00000439251.1	-	2	1207	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	PNMA5_ENST00000452693.1_Missense_Mutation_p.E257Q|PNMA5_ENST00000361887.5_Missense_Mutation_p.E257Q|PNMA5_ENST00000535214.1_Missense_Mutation_p.E257Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	257					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAGACTTTCTCTCCAATCTTC	0.522																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(769-771)Gag>Cag		paraneoplastic Ma antigen family member 5							67.0	65.0	66.0					X																	152159374		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159374C>G	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.769G>C	X.37:g.152159374C>G	ENSP00000388850:p.Glu257Gln					PNMA5_ENST00000361887.5_Missense_Mutation_p.E257Q|PNMA5_ENST00000452693.1_Missense_Mutation_p.E257Q|PNMA5_ENST00000535214.1_Missense_Mutation_p.E257Q	p.E257Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1207	-	Acute lymphoblastic leukemia(192;6.56e-05)		257					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.769G>C	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.65	3.181001	0.57800	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	2.82	2.82	0.32997	.	.	.	.	.	T	0.52581	0.1743	M	0.77103	2.36	0.09310	N	0.999999	D	0.89917	1.0	D	0.81914	0.995	T	0.29822	-0.9999	9	0.87932	D	0	.	8.432	0.32764	0.0:1.0:0.0:0.0	.	257	Q96PV4	PNMA5_HUMAN	Q	257	ENSP00000354834:E257Q;ENSP00000445775:E257Q;ENSP00000388850:E257Q;ENSP00000392342:E257Q	ENSP00000354834:E257Q	E	-	1	0	PNMA5	151910030	0.908000	0.30866	0.043000	0.18650	0.309000	0.27889	2.059000	0.41384	1.713000	0.51359	0.287000	0.19450	GAG		0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		32	67	0	0	0	1	0	32	67				
DNASE1	1773	broad.mit.edu	37	16	3707065	3707065	+	Missense_Mutation	SNP	G	G	A	rs371345873		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:3707065G>A	ENST00000246949.5	+	6	3711	c.502G>A	c.(502-504)Gct>Act	p.A168T	DNASE1_ENST00000407479.1_Missense_Mutation_p.A168T|DNASE1_ENST00000414110.2_Intron	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	168					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CGAGATCGACGCTCTCTATGA	0.642																																						ENST00000246949.5																			0				lung(1)	1						c.(502-504)Gct>Act		deoxyribonuclease I	Dornase Alfa(DB00003)	G	THR/ALA	2,4390	4.2+/-10.8	0,2,2194	68.0	59.0	62.0		502	3.0	0.1	16		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNASE1	NM_005223.3	58	0,3,6493	AA,AG,GG		0.0116,0.0455,0.0231	probably-damaging	168/283	3707065	3,12989	2196	4300	6496	SO:0001583	missense	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3707065G>A		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.502G>A	16.37:g.3707065G>A	ENSP00000246949:p.Ala168Thr					DNASE1_ENST00000414110.2_Intron|DNASE1_ENST00000407479.1_Missense_Mutation_p.A168T	p.A168T	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	6	3711	+		Ovarian(90;0.0261)	168					B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	c.502G>A	CCDS10507.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667399	0.47677	4.55E-4	1.16E-4	ENSG00000213918	ENST00000407479;ENST00000246949	T;T	0.33216	1.42;1.42	5.04	2.97	0.34412	Endonuclease/exonuclease/phosphatase (2);	0.119302	0.56097	D	0.000029	T	0.36799	0.0980	M	0.90425	3.115	0.80722	D	1	P	0.43431	0.807	B	0.35182	0.197	T	0.42172	-0.9467	10	0.59425	D	0.04	-12.9692	10.1967	0.43058	0.084:0.0:0.746:0.17	.	168	P24855	DNAS1_HUMAN	T	168	ENSP00000385905:A168T;ENSP00000246949:A168T	ENSP00000246949:A168T	A	+	1	0	DNASE1	3647066	0.087000	0.21565	0.061000	0.19648	0.172000	0.22775	1.807000	0.38902	0.408000	0.25621	0.561000	0.74099	GCT		0.642	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			11	46	0	0	0	1	0	11	46				
SRP54	6729	broad.mit.edu	37	14	35477865	35477865	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:35477865G>C	ENST00000556994.1	+	7	790	c.393G>C	c.(391-393)aaG>aaC	p.K131N	SRP54_ENST00000216774.6_Missense_Mutation_p.K131N|SRP54_ENST00000546080.1_Missense_Mutation_p.K82N|SRP54_ENST00000555557.1_Missense_Mutation_p.K67N			P61011	SRP54_HUMAN	signal recognition particle 54kDa	131	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AAGGTTGGAAGACCTGTTTAA	0.269																																						ENST00000556994.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(391-393)aaG>aaC		signal recognition particle 54kDa							36.0	37.0	36.0					14																	35477865		2201	4295	6496	SO:0001583	missense	6729				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	g.chr14:35477865G>C	X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.393G>C	14.37:g.35477865G>C	ENSP00000451818:p.Lys131Asn					SRP54_ENST00000555557.1_Missense_Mutation_p.K67N|SRP54_ENST00000546080.1_Missense_Mutation_p.K82N|SRP54_ENST00000216774.6_Missense_Mutation_p.K131N	p.K131N			P61011	SRP54_HUMAN	LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)	7	790	+	Breast(36;0.0545)|Hepatocellular(127;0.158)		131			G-domain.		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	ENST00000556994.1	37	c.393G>C	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198566	0.58126	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.03	4.14	0.48551	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76252	-0.3027	9	0.51188	T	0.08	-14.5377	10.0048	0.41951	0.1558:0.0:0.8442:0.0	.	82;131	B4DUW6;P61011	.;SRP54_HUMAN	N	131;131;82;67	.	ENSP00000216774:K131N	K	+	3	2	SRP54	34547616	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.681000	0.61663	1.230000	0.43646	-0.237000	0.12165	AAG		0.269	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136		8	40	0	0	0	1	0	8	40				
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000433626.2_Missense_Mutation_p.E170K|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				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)				CTCTTAGGTTCACAGGTGAAG	0.453																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(787-789)Gaa>Aaa		pregnancy specific beta-1-glycoprotein 4							210.0	229.0	223.0					19																	43699348		2202	4295	6497	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43699348C>T		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.787G>A	19.37:g.43699348C>T	ENSP00000384770:p.Glu263Lys					PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K	p.E263K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			4	1024	-		Prostate(69;0.00682)	263			Ig-like C2-type 2.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.787G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	13.13	2.145179	0.37825	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.12255	2.7;2.7	1.49	-1.76	0.08006	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23766	0.0575	M	0.67625	2.065	0.09310	N	1	P;D	0.54207	0.899;0.965	D;P	0.63283	0.913;0.854	T	0.15838	-1.0423	9	0.52906	T	0.07	.	1.7428	0.02955	0.3266:0.4252:0.0:0.2482	.	170;263	E7EX79;Q00888	.;PSG4_HUMAN	K	263;170	ENSP00000384770:E263K;ENSP00000387864:E170K	ENSP00000384770:E263K	E	-	1	0	PSG4	48391188	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-0.798000	0.04565	-0.030000	0.13804	0.524000	0.50904	GAA		0.453	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		63	255	0	0	0	1	0	63	255				
SUOX	6821	broad.mit.edu	37	12	56397864	56397864	+	Missense_Mutation	SNP	C	C	T	rs368523434		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:56397864C>T	ENST00000394109.3	+	3	1415	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000356124.4_Missense_Mutation_p.R231C|SUOX_ENST00000394115.2_Missense_Mutation_p.R231C|SUOX_ENST00000266971.3_Missense_Mutation_p.R231C|SUOX_ENST00000548274.1_Missense_Mutation_p.R231C			P51687	SUOX_HUMAN	sulfite oxidase	231	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGACACCTATCGCTTACACGT	0.532																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(691-693)Cgc>Tgc		sulfite oxidase		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	104.0	107.0		691,691,691	5.1	1.0	12		107	0,8600		0,0,4300	no	missense,missense,missense	SUOX	NM_000456.2,NM_001032386.1,NM_001032387.1	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	231/546,231/546,231/546	56397864	1,13005	2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397864C>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.691C>T	12.37:g.56397864C>T	ENSP00000377668:p.Arg231Cys					SUOX_ENST00000394115.2_Missense_Mutation_p.R231C|SUOX_ENST00000356124.4_Missense_Mutation_p.R231C|SUOX_ENST00000266971.3_Missense_Mutation_p.R231C|SUOX_ENST00000548274.1_Missense_Mutation_p.R231C|SUOX_ENST00000551841.2_Intron	p.R231C			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	1415	+			231			Molybdenum-pterin domain (By similarity).			Missense_Mutation	SNP	ENST00000394109.3	37	c.691C>T	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260685	0.39995	2.27E-4	0.0	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.12	5.12	0.69794	Oxidoreductase, molybdopterin-binding domain (3);	0.213578	0.40064	N	0.001185	D	0.94443	0.8212	M	0.89601	3.045	0.58432	D	0.999999	B	0.28584	0.216	B	0.20577	0.03	D	0.93015	0.6435	10	0.56958	D	0.05	-7.3347	12.888	0.58055	0.1629:0.8371:0.0:0.0	.	231	P51687	SUOX_HUMAN	C	231	ENSP00000348440:R231C;ENSP00000266971:R231C;ENSP00000377674:R231C;ENSP00000450245:R231C;ENSP00000377668:R231C	ENSP00000266971:R231C	R	+	1	0	SUOX	54684131	0.998000	0.40836	1.000000	0.80357	0.837000	0.47467	2.445000	0.44899	2.837000	0.97791	0.591000	0.81541	CGC		0.532	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		6	71	0	0	0	1	0	6	71				
SLC25A36	55186	broad.mit.edu	37	3	140695131	140695131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:140695131G>T	ENST00000324194.6	+	7	940	c.772G>T	c.(772-774)Gga>Tga	p.G258*	SLC25A36_ENST00000446041.2_Nonsense_Mutation_p.G257*|SLC25A36_ENST00000453248.2_Nonsense_Mutation_p.G232*			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	258					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						ACGTGAAGAGGGAACAAAATA	0.343																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(769-771)Gga>Tga		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							111.0	107.0	109.0					3																	140695131		2203	4300	6503	SO:0001587	stop_gained	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140695131G>T	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.772G>T	3.37:g.140695131G>T	ENSP00000320688:p.Gly258*					SLC25A36_ENST00000453248.2_Nonsense_Mutation_p.G232*|SLC25A36_ENST00000324194.6_Nonsense_Mutation_p.G258*	p.G257*	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			7	994	+			258					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Nonsense_Mutation	SNP	ENST00000324194.6	37	c.769G>T	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591566	0.86953	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	.	.	.	6.03	5.17	0.71159	.	0.045937	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-15.1302	13.1001	0.59216	0.0769:0.0:0.9231:0.0	.	.	.	.	X	257;258;232	.	ENSP00000320688:G258X	G	+	1	0	SLC25A36	142177821	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.828000	0.99408	1.574000	0.49760	-0.262000	0.10625	GGA		0.343	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		8	32	1	0	1.12685e-05	1	1.14517e-05	8	32				
CCNK	8812	broad.mit.edu	37	14	99961945	99961945	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:99961945C>T	ENST00000389879.5	+	4	513	c.390C>T	c.(388-390)ggC>ggT	p.G130G	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Silent_p.G130G	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	130					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				TACAATTTGGCCAGTTTGGAG	0.383																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(388-390)ggC>ggT		cyclin K							153.0	152.0	152.0					14																	99961945		1871	4110	5981	SO:0001819	synonymous_variant	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99961945C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.390C>T	14.37:g.99961945C>T						CCNK_ENST00000555049.1_Silent_p.G130G|CCNK_ENST00000557165.1_3'UTR	p.G130G	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN			4	513	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	130					Q59FT6|Q86U16|Q96B63|Q9NNY9	Silent	SNP	ENST00000389879.5	37	c.390C>T	CCDS45160.1																																																																																				0.383	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			4	112	0	0	0	1	0	4	112				
TP73-AS1	57212	broad.mit.edu	37	1	3662748	3662748	+	RNA	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:3662748G>A	ENST00000452079.1	-	0	1138				TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000544565.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											CGAGGCGGCTGAGCTGGACAA	0.577																																						ENST00000452079.1																			0																				33.0	38.0	36.0					1																	3662748		2185	4277	6462			57212							g.chr1:3662748G>A			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662748G>A						TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA		NR_033711.1						0	1138	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.577	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		4	48	0	0	0	1	0	4	48				
TAOK2	9344	broad.mit.edu	37	16	29997849	29997849	+	Silent	SNP	G	G	A	rs367652603		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:29997849G>A	ENST00000308893.4	+	16	3299	c.2256G>A	c.(2254-2256)ccG>ccA	p.P752P	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000416441.2_Silent_p.P579P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	752					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGCGCCCCCCGGGCCTTCCAC	0.652																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2254-2256)ccG>ccA		TAO kinase 2							49.0	58.0	55.0					16																	29997849		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997849G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2256G>A	16.37:g.29997849G>A						TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.P579P	p.P752P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3299	+			752					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.2256G>A	CCDS10663.1																																																																																				0.652	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		4	167	0	0	0	1	0	4	167				
TNFRSF9	3604	broad.mit.edu	37	1	7995117	7995117	+	Missense_Mutation	SNP	G	G	A	rs145966863	byFrequency	TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:7995117G>A	ENST00000377507.3	-	6	666	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	167					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.P167L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGCTCCCGGAGAGAGGTC	0.542																																						ENST00000377507.3																			1	Substitution - Missense(1)	p.P167L(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(499-501)cCg>cTg		tumor necrosis factor receptor superfamily, member 9		G	LEU/PRO	0,4406		0,0,2203	88.0	75.0	79.0		500	3.5	0.1	1	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TNFRSF9	NM_001561.5	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	167/256	7995117	2,13004	2203	4300	6503	SO:0001583	missense	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7995117G>A	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.500C>T	1.37:g.7995117G>A	ENSP00000366729:p.Pro167Leu						p.P167L	NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	6	666	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	167						Missense_Mutation	SNP	ENST00000377507.3	37	c.500C>T	CCDS92.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935547	0.34189	0.0	2.33E-4	ENSG00000049249	ENST00000377507	T	0.06687	3.27	5.44	3.55	0.40652	.	0.334095	0.27654	N	0.018415	T	0.09774	0.0240	M	0.70903	2.155	0.20307	N	0.999913	P	0.35107	0.484	B	0.29077	0.098	T	0.16958	-1.0385	10	0.46703	T	0.11	-8.4461	8.8211	0.35027	0.1798:0.0:0.8202:0.0	.	167	Q07011	TNR9_HUMAN	L	167	ENSP00000366729:P167L	ENSP00000366729:P167L	P	-	2	0	TNFRSF9	7917704	0.857000	0.29778	0.065000	0.19835	0.026000	0.11368	2.560000	0.45896	1.298000	0.44778	0.557000	0.71058	CCG		0.542	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			14	32	0	0	0	1	0	14	32				
ATP2A1	487	broad.mit.edu	37	16	28900216	28900216	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:28900216C>G	ENST00000357084.3	+	9	1304	c.1037C>G	c.(1036-1038)tCt>tGt	p.S346C	ATP2A1_ENST00000395503.4_Missense_Mutation_p.S346C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.S221C	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	346					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGCTGCACCTCTGTCATCTGT	0.592																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1036-1038)tCt>tGt		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							206.0	177.0	187.0					16																	28900216		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900216C>G		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1037C>G	16.37:g.28900216C>G	ENSP00000349595:p.Ser346Cys					ATP2A1_ENST00000357084.3_Missense_Mutation_p.S346C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.S221C	p.S346C	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1221	+			346					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1037C>G	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784841	0.90282	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.96168	-3.93;-3.93;-3.93	5.45	5.45	0.79879	ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.989	D	0.99624	1.0984	10	0.87932	D	0	.	18.0477	0.89337	0.0:1.0:0.0:0.0	.	221;346;346	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	C	346;346;383;221	ENSP00000349595:S346C;ENSP00000378879:S346C;ENSP00000443101:S221C	ENSP00000349595:S346C	S	+	2	0	ATP2A1	28807717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.555000	0.86185	0.563000	0.77884	TCT		0.592	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		58	215	0	0	0	1	0	58	215				
NOV	4856	broad.mit.edu	37	8	120429126	120429126	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:120429126C>G	ENST00000259526.3	+	2	454	c.227C>G	c.(226-228)tCa>tGa	p.S76*		NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GAGAGCTGCTCAGATCTGGAG	0.682											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(226-228)tCa>tGa		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						39.0	38.0	38.0					8																	120429126		2203	4300	6503	SO:0001587	stop_gained	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120429126C>G	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.227C>G	8.37:g.120429126C>G	ENSP00000259526:p.Ser76*		OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1503		p.S76*	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		2	454	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		76			IGFBP N-terminal.			Nonsense_Mutation	SNP	ENST00000259526.3	37	c.227C>G	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	C	38	7.103112	0.98066	.	.	ENSG00000136999	ENST00000259526	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.8711	18.6922	0.91588	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000259526:S76X	S	+	2	0	NOV	120498307	1.000000	0.71417	0.951000	0.38953	0.925000	0.55904	5.772000	0.68889	2.715000	0.92844	0.561000	0.74099	TCA		0.682	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		11	33	0	0	0	1	0	11	33				
COL22A1	169044	broad.mit.edu	37	8	139845345	139845345	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:139845345C>G	ENST00000303045.6	-	5	1228	c.782G>C	c.(781-783)aGa>aCa	p.R261T	COL22A1_ENST00000435777.1_Missense_Mutation_p.R261T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	261	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCATTCTCTCTCTTCCCCAA	0.483										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(781-783)aGa>aCa		collagen, type XXII, alpha 1							143.0	117.0	125.0					8																	139845345		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139845345C>G	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.782G>C	8.37:g.139845345C>G	ENSP00000303153:p.Arg261Thr	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.R261T	p.R261T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		5	1228	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		261			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.782G>C	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082989	0.36758	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.21932	1.98;1.98	5.05	3.92	0.45320	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.115189	0.37437	N	0.002100	T	0.10937	0.0267	N	0.17474	0.49	0.37168	D	0.902918	D	0.53151	0.958	B	0.42692	0.395	T	0.04796	-1.0926	9	.	.	.	.	4.4789	0.11757	0.0:0.7041:0.0:0.2959	.	261	Q8NFW1	COMA1_HUMAN	T	261	ENSP00000303153:R261T;ENSP00000387655:R261T	.	R	-	2	0	COL22A1	139914527	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	2.431000	0.44775	2.523000	0.85059	0.650000	0.86243	AGA		0.483	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		21	86	0	0	0	1	0	21	86				
ZFHX3	463	broad.mit.edu	37	16	72831514	72831514	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:72831514C>T	ENST00000268489.5	-	9	5739	c.5067G>A	c.(5065-5067)ggG>ggA	p.G1689G	ZFHX3_ENST00000397992.5_Silent_p.G775G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1689					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGTGGCATCCCTACACTCT	0.527																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5065-5067)ggG>ggA		zinc finger homeobox 3							118.0	98.0	105.0					16																	72831514		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831514C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5067G>A	16.37:g.72831514C>T						ZFHX3_ENST00000397992.5_Silent_p.G775G	p.G1689G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5739	-		Ovarian(137;0.13)	1689					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.5067G>A	CCDS10908.1																																																																																				0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		17	104	0	0	0	1	0	17	104				
PHF3	23469	broad.mit.edu	37	6	64416676	64416676	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:64416676C>T	ENST00000262043.3	+	13	3961	c.3621C>T	c.(3619-3621)ttC>ttT	p.F1207F	PHF3_ENST00000393387.1_Silent_p.F1207F			Q92576	PHF3_HUMAN	PHD finger protein 3	1207					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GATTGAACTTCATCTGGAAAG	0.413																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3619-3621)ttC>ttT		PHD finger protein 3							153.0	142.0	146.0					6																	64416676		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64416676C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3621C>T	6.37:g.64416676C>T						PHF3_ENST00000393387.1_Silent_p.F1207F	p.F1207F			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		13	3961	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1207					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.3621C>T	CCDS4966.1																																																																																				0.413	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			14	57	0	0	0	1	0	14	57				
KMT2C	58508	broad.mit.edu	37	7	151845932	151845932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:151845932C>T	ENST00000262189.6	-	52	13298	c.13080G>A	c.(13078-13080)tgG>tgA	p.W4360*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.W4417*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4360					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W4360*(1)|p.W4417*(1)									TATGAATGCTCCACTTCTTCC	0.423																																						ENST00000355193.2																			2	Substitution - Nonsense(2)	p.W4360*(1)|p.W4417*(1)	biliary_tract(2)								c.(13249-13251)tgG>tgA		lysine (K)-specific methyltransferase 2C							83.0	78.0	80.0					7																	151845932		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151845932C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13080G>A	7.37:g.151845932C>T	ENSP00000262189:p.Trp4360*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.W4360*	p.W4417*							53	13469	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.13251G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	55|55	24.367596|24.367596	0.99960|0.99960	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.42548	.|U	.|0.000693	T|.	0.47911|.	0.1471|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37596|.	-0.9699|.	4|.	.|0.02654	.|T	.|1	.|.	19.7589|19.7589	0.96306|0.96306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	1921|4360;4417;977	.|.	.|ENSP00000262189:W4360X	E|W	-|-	1|3	0|0	MLL3|MLL3	151476865|151476865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.726000|7.726000	0.84824|0.84824	2.670000|2.670000	0.90874|0.90874	0.650000|0.650000	0.86243|0.86243	GAG|TGG		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			11	41	0	0	0	1	0	11	41				
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																						ENST00000215832.6																			1	Substitution - Missense(1)	p.E322K(1)	cervix(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(964-966)Gag>Aag		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22127164C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys					MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	7	1152	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	322					A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.964G>A	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			14	61	0	0	0	1	0	14	61				
NXPH1	30010	broad.mit.edu	37	7	8791145	8791145	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:8791145G>A	ENST00000405863.1	+	3	1473	c.562G>A	c.(562-564)Gat>Aat	p.D188N	NXPH1_ENST00000602349.1_Missense_Mutation_p.D71N|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	188	V (Cys-rich).					extracellular region (GO:0005576)		p.D188Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGATGCCAAAGATTCCAAGTC	0.413																																						ENST00000405863.1																			1	Substitution - Missense(1)	p.D188Y(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(562-564)Gat>Aat		neurexophilin 1							61.0	59.0	59.0					7																	8791145		1864	4105	5969	SO:0001583	missense	30010					extracellular region		g.chr7:8791145G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.562G>A	7.37:g.8791145G>A	ENSP00000384551:p.Asp188Asn					NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D71N	p.D188N	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1473	+		Ovarian(82;0.0628)	188			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.562G>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580613	0.86645	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	L	0.47716	1.5	0.80722	D	1	D	0.57571	0.98	P	0.62740	0.906	T	0.66118	-0.6003	9	0.28530	T	0.3	-15.0406	20.6208	0.99490	0.0:0.0:1.0:0.0	.	188	P58417	NXPH1_HUMAN	N	188;71	.	ENSP00000384551:D188N	D	+	1	0	NXPH1	8757670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GAT		0.413	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		6	32	0	0	0	1	0	6	32				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	73	0	0	0	1	0	5	73				
LOC148709	148709	broad.mit.edu	37	1	202842517	202842517	+	lincRNA	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:202842517C>T	ENST00000456105.2	+	0	469					NR_002929.2																						ATGTTCCCCTCCATCACTGGG	0.552																																						ENST00000456105.2																			0																																																			148709							g.chr1:202842517C>T																													1.37:g.202842517C>T								NR_002929.2						0	469	+									RNA	SNP	ENST00000456105.2	37																																																																																						0.552	RP11-480I12.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099158.2			4	12	0	0	0	1	0	4	12				
PRRG1	5638	broad.mit.edu	37	X	37285149	37285149	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrX:37285149G>C	ENST00000542554.1	+	4	339	c.67G>C	c.(67-69)Ggg>Cgg	p.G23R	TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23R|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23R|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23R|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23R|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23R	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	23	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AAGAGCTAATGGGTTTTTTGA	0.338																																						ENST00000542554.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(67-69)Ggg>Cgg		proline rich Gla (G-carboxyglutamic acid) 1							55.0	53.0	54.0					X																	37285149		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37285149G>C	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.67G>C	X.37:g.37285149G>C	ENSP00000444278:p.Gly23Arg					PRRG1_ENST00000543642.1_Missense_Mutation_p.G23R|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23R|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23R|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23R|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23R	p.G23R	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			4	339	+			23			Gla.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.67G>C	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752739	0.49362	.	.	ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000130962;ENSG00000250349	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000484460;ENST00000449135;ENST00000463135;ENST00000465127	D;D;D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	5.18	1.3	0.21679	Gamma-carboxyglutamic acid-rich (GLA) domain (3);Coagulation factor, subgroup, Gla domain (1);	0.786408	0.12290	N	0.482135	D	0.98701	0.9564	L	0.57536	1.79	0.22541	N	0.999008	B	0.02656	0.0	B	0.04013	0.001	D	0.99951	1.1542	10	0.34782	T	0.22	-1.5605	3.3088	0.07010	0.387:0.0:0.4325:0.1805	.	23	O14668	TMG1_HUMAN	R	23	ENSP00000367894:G23R;ENSP00000418384:G23R;ENSP00000444278:G23R;ENSP00000443271:G23R;ENSP00000420353:G23R;ENSP00000390332:G23R;ENSP00000419999:G23R;ENSP00000417050:G23R	ENSP00000367894:G23R	G	+	1	0	RP5-972B16.2;PRRG1	37170070	0.007000	0.16637	0.149000	0.22428	0.844000	0.47949	0.053000	0.14184	0.058000	0.16222	0.600000	0.82982	GGG		0.338	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		14	13	0	0	0	1	0	14	13				
STXBP5L	9515	broad.mit.edu	37	3	120760566	120760566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:120760566G>A	ENST00000273666.6	+	4	578	c.307G>A	c.(307-309)Gat>Aat	p.D103N	STXBP5L_ENST00000471454.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D103N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	103					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACCTGGTGTTGATTGCTATTG	0.348																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(307-309)Gat>Aat		syntaxin binding protein 5-like							136.0	125.0	128.0					3																	120760566		1842	4091	5933	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120760566G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.307G>A	3.37:g.120760566G>A	ENSP00000273666:p.Asp103Asn					STXBP5L_ENST00000472879.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D103N	p.D103N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	4	578	+			103					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.307G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582516	0.65992	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	D;D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.68317	2.08	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	D	0.97662	1.0161	10	0.59425	D	0.04	-21.5895	17.7423	0.88410	0.0:0.0:1.0:0.0	.	103;103	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	103	ENSP00000273666:D103N;ENSP00000420019:D103N;ENSP00000419627:D103N;ENSP00000420287:D103N;ENSP00000420666:D103N;ENSP00000419404:D103N;ENSP00000420167:D103N	ENSP00000273666:D103N	D	+	1	0	STXBP5L	122243256	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.287000	0.89918	2.423000	0.82170	0.557000	0.71058	GAT		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			9	54	0	0	0	1	0	9	54				
WDFY3	23001	broad.mit.edu	37	4	85717800	85717800	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:85717800C>T	ENST00000295888.4	-	19	3448	c.3041G>A	c.(3040-3042)gGa>gAa	p.G1014E	WDFY3_ENST00000322366.6_Missense_Mutation_p.G1014E	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1014					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACAGTACTTCCTTCCGCAGA	0.448																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3040-3042)gGa>gAa		WD repeat and FYVE domain containing 3							143.0	130.0	134.0					4																	85717800		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85717800C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3041G>A	4.37:g.85717800C>T	ENSP00000295888:p.Gly1014Glu					WDFY3_ENST00000295888.4_Missense_Mutation_p.G1014E	p.G1014E			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	19	3448	-		Hepatocellular(203;0.114)	1014					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3041G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.520691	0.96416	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.53423	0.62;0.62	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	M	0.64404	1.975	0.80722	D	1	D	0.58268	0.982	P	0.60473	0.875	T	0.61598	-0.7030	10	0.44086	T	0.13	.	20.3398	0.98759	0.0:1.0:0.0:0.0	.	1014	Q8IZQ1	WDFY3_HUMAN	E	1014	ENSP00000318466:G1014E;ENSP00000295888:G1014E	ENSP00000295888:G1014E	G	-	2	0	WDFY3	85936824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.656000	0.61483	2.811000	0.96726	0.557000	0.71058	GGA		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		18	82	0	0	0	1	0	18	82				
PDIA3	2923	broad.mit.edu	37	15	44036355	44036355	+	5'Flank	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:44036355C>T	ENST00000300289.5	+	0	0				CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000538521.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TCACGTATTTCAACCATCAGT	0.473																																						ENST00000381680.2																			0																																																	SO:0001631	upstream_gene_variant	440278							g.chr15:44036355C>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444		15.37:g.44036355C>T	Exception_encountered							NR_002318.2						0	578	-								Q13453|Q14255|Q8IYF8|Q9UMU7	RNA	SNP	ENST00000300289.5	37		CCDS10101.1																																																																																				0.473	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		3	20	0	0	0	1	0	3	20				
AMFR	267	broad.mit.edu	37	16	56401439	56401439	+	Splice_Site	SNP	G	G	A	rs202074356		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:56401439G>A	ENST00000290649.5	-	12	1726	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	506					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CTATCTGACCGCTGGAAGAGA	0.493																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.e12-1		autocrine motility factor receptor, E3 ubiquitin protein ligase							232.0	220.0	224.0					16																	56401439		2198	4300	6498	SO:0001630	splice_region_variant	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56401439G>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1516-1C>T	16.37:g.56401439G>A							p.R506_splice	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			12	1726	-			506					P26442|Q8IZ70	Splice_Site	SNP	ENST00000290649.5	37	c.1515_splice	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727337	0.69074	.	.	ENSG00000159461	ENST00000290649	T	0.14893	2.47	5.8	5.8	0.92144	.	0.234971	0.44483	D	0.000455	T	0.35248	0.0925	M	0.63428	1.95	0.52501	D	0.999959	D;D	0.76494	0.998;0.999	P;P	0.55785	0.776;0.784	T	0.02345	-1.1173	10	0.72032	D	0.01	-24.0104	18.2436	0.89977	0.0:0.0:1.0:0.0	.	506;155	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	W	506	ENSP00000290649:R506W	ENSP00000290649:R506W	R	-	1	2	AMFR	54958940	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	3.633000	0.54295	2.735000	0.93741	0.655000	0.94253	CGG		0.493	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2		Missense_Mutation	5	307	0	0	0	1	0	5	307				
MYO9A	4649	broad.mit.edu	37	15	72338247	72338247	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:72338247C>A	ENST00000356056.5	-	2	1130	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	MYO9A_ENST00000424560.1_Missense_Mutation_p.D220Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.D220Y|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.D220Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	220	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TAAGCTACATCAGCCACAGCA	0.403																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(658-660)Gat>Tat		myosin IXA							94.0	85.0	88.0					15																	72338247		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72338247C>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.658G>T	15.37:g.72338247C>A	ENSP00000348349:p.Asp220Tyr					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.D220Y|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.D220Y|MYO9A_ENST00000424560.1_Missense_Mutation_p.D220Y	p.D220Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			2	1130	-			220			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.658G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605041	0.87157	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.89123	-2.47;-2.47;-2.47	5.92	5.92	0.95590	Myosin head, motor domain (2);	.	.	.	.	D	0.96842	0.8969	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97414	1.0004	9	0.87932	D	0	.	20.3735	0.98896	0.0:1.0:0.0:0.0	.	220;220;220	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Y	220	ENSP00000348349:D220Y;ENSP00000399162:D220Y;ENSP00000398250:D220Y	ENSP00000261864:D220Y	D	-	1	0	MYO9A	70125301	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.745000	0.85046	2.820000	0.97059	0.650000	0.86243	GAT		0.403	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		22	59	1	0	7.41877e-09	1	7.6012e-09	22	59				
COL6A6	131873	broad.mit.edu	37	3	130300675	130300675	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:130300675C>A	ENST00000358511.6	+	8	3849	c.3818C>A	c.(3817-3819)cCa>cAa	p.P1273Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1273Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1273	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTTAAAGGACCATCTCTTCTC	0.368																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3817-3819)cCa>cAa		collagen, type VI, alpha 6							174.0	168.0	170.0					3																	130300675		1889	4103	5992	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130300675C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3818C>A	3.37:g.130300675C>A	ENSP00000351310:p.Pro1273Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.P1273Q	p.P1273Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			8	3849	+			1273			Nonhelical region.|VWFA 7.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3818C>A	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.10|15.10	2.733658|2.733658	0.48939|0.48939	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|T;T	.|0.37235	.|1.21;1.21	6.06|6.06	6.06|6.06	0.98353|0.98353	.|von Willebrand factor, type A (2);	.|.	.|.	.|.	.|.	T|T	0.60196|0.60196	0.2250|0.2250	M|M	0.69358|0.69358	2.11|2.11	0.41162|0.41162	D|D	0.9861|0.9861	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.51100|0.51100	-0.8748|-0.8748	5|9	.|0.30854	.|T	.|0.27	.|.	19.3923|19.3923	0.94587|0.94587	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1273	.|A6NMZ7	.|CO6A6_HUMAN	N|Q	31|1273	.|ENSP00000351310:P1273Q;ENSP00000399236:P1273Q	.|ENSP00000351310:P1273Q	H|P	+|+	1|2	0|0	COL6A6|COL6A6	131783365|131783365	0.449000|0.449000	0.25689|0.25689	0.897000|0.897000	0.35233|0.35233	0.024000|0.024000	0.10985|0.10985	5.155000|5.155000	0.64900|0.64900	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.368	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		48	193	1	0	1.63038e-21	1	1.71258e-21	48	193				
PCDHA9	9752	broad.mit.edu	37	5	140242608	140242608	+	Intron	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:140242608G>A	ENST00000532602.1	+	1	3427				PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|AC005609.1_ENST00000502505.1_Missense_Mutation_p.A123V|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGTTGTCGCAACAGCTGC	0.637																																					Melanoma(55;1800 1972 14909)	ENST00000502505.1																			0											c.(367-369)gCg>gTg																																						SO:0001627	intron_variant	0							g.chr5:140242608G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12134G>A	5.37:g.140242608G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.A123V							1	616	-								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.368C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	g	1.716	-0.497824	0.04291	.	.	ENSG00000249034	ENST00000502505	.	.	.	4.21	-8.42	0.00957	.	.	.	.	.	T	0.36635	0.0974	.	.	.	0.44908	D	0.997927	B	0.06786	0.001	B	0.04013	0.001	T	0.08452	-1.0721	7	0.51188	T	0.08	.	2.9728	0.05928	0.1192:0.297:0.2575:0.3263	.	123	Q8NB83	.	V	123	.	ENSP00000424817:A123V	A	-	2	0	AC005609.17	140222792	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-6.105000	0.00080	-2.856000	0.00329	-3.254000	0.00050	GCG		0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		9	36	0	0	0	1	0	9	36				
HOXA13	3209	broad.mit.edu	37	7	27237897	27237897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:27237897C>T	ENST00000222753.4	-	2	1115	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000521028.2_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	363					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						ACCTGCCGCTCAGAGAGATTC	0.413			T	NUP98	AML																																	ENST00000222753.4				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(1087-1089)Gag>Aag		homeobox A13							196.0	206.0	203.0					7																	27237897		2203	4300	6503	SO:0001583	missense	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237897C>T		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1087G>A	7.37:g.27237897C>T	ENSP00000222753:p.Glu363Lys						p.E363K	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN			2	1115	-			363					A4D188|O43371	Missense_Mutation	SNP	ENST00000222753.4	37	c.1087G>A	CCDS5412.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917166	0.92249	.	.	ENSG00000106031	ENST00000222753	D	0.96802	-4.13	5.57	5.57	0.84162	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99517	1.0957	10	0.87932	D	0	.	19.1476	0.93475	0.0:1.0:0.0:0.0	.	363	P31271	HXA13_HUMAN	K	363	ENSP00000222753:E363K	ENSP00000222753:E363K	E	-	1	0	HOXA13	27204422	1.000000	0.71417	0.981000	0.43875	0.986000	0.74619	7.818000	0.86416	2.609000	0.88269	0.563000	0.77884	GAG		0.413	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			62	211	0	0	0	1	0	62	211				
STEAP2	261729	broad.mit.edu	37	7	89856755	89856755	+	Silent	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:89856755C>G	ENST00000287908.3	+	3	1356	c.963C>G	c.(961-963)ctC>ctG	p.L321L	STEAP2_ENST00000394621.2_Silent_p.L321L|STEAP2_ENST00000394622.2_Silent_p.L321L|STEAP2_ENST00000394632.1_Silent_p.L321L|STEAP2_ENST00000394626.1_Silent_p.L321L|STEAP2_ENST00000402625.2_Silent_p.L321L|STEAP2_ENST00000394629.2_Silent_p.L321L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	321	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CCTACAGCCTCTGCTTACCGA	0.398																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(961-963)ctC>ctG		STEAP family member 2, metalloreductase							69.0	70.0	69.0					7																	89856755		2202	4298	6500	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856755C>G	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.963C>G	7.37:g.89856755C>G						STEAP2_ENST00000394622.2_Silent_p.L321L|STEAP2_ENST00000394621.2_Silent_p.L321L|STEAP2_ENST00000394629.2_Silent_p.L321L|STEAP2_ENST00000402625.2_Silent_p.L321L|STEAP2_ENST00000394632.1_Silent_p.L321L|STEAP2_ENST00000394626.1_Silent_p.L321L	p.L321L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1356	+	all_hematologic(106;0.112)		321			Ferric oxidoreductase.		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.963C>G	CCDS5615.1																																																																																				0.398	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		14	38	0	0	0	1	0	14	38				
EPHB4	2050	broad.mit.edu	37	7	100421502	100421502	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:100421502C>T	ENST00000358173.3	-	3	643	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.E59K|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	59	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCACACACTTCGTAGGTGCGC	0.682																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(175-177)Gaa>Aaa		EPH receptor B4							33.0	28.0	29.0					7																	100421502		2200	4298	6498	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421502C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.175G>A	7.37:g.100421502C>T	ENSP00000350896:p.Glu59Lys					EPHB4_ENST00000360620.3_Missense_Mutation_p.E59K|EPHB4_ENST00000477446.1_5'UTR	p.E59K	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	643	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		59					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.175G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	c	26.6	4.751416	0.89753	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.03635	3.86;3.86	4.93	4.93	0.64822	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000043	T	0.12561	0.0305	L	0.49778	1.585	0.49687	D	0.999813	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.992;0.973	D;D;D;P;P	0.79108	0.992;0.978;0.992;0.637;0.588	T	0.00211	-1.1915	10	0.87932	D	0	.	11.8315	0.52299	0.0:0.8227:0.1773:0.0	.	59;59;59;59;59	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	K	59	ENSP00000353833:E59K;ENSP00000350896:E59K	ENSP00000350896:E59K	E	-	1	0	EPHB4	100259438	0.999000	0.42202	0.989000	0.46669	0.786000	0.44442	2.462000	0.45049	2.452000	0.82932	0.556000	0.70494	GAA		0.682	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		8	23	0	0	0	1	0	8	23				
GPR111	222611	broad.mit.edu	37	6	47649593	47649593	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:47649593C>T	ENST00000296862.1	+	6	1298	c.1298C>T	c.(1297-1299)tCa>tTa	p.S433L	GPR111_ENST00000398742.2_Missense_Mutation_p.S365L|GPR111_ENST00000507065.1_Missense_Mutation_p.S365L			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	433	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				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(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACCTCTTTCTCAATTCTTATG	0.438																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1093-1095)tCa>tTa		G protein-coupled receptor 111							157.0	146.0	150.0					6																	47649593		1919	4124	6043	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649593C>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1298C>T	6.37:g.47649593C>T	ENSP00000296862:p.Ser433Leu					GPR111_ENST00000507065.1_Missense_Mutation_p.S365L|GPR111_ENST00000296862.1_Missense_Mutation_p.S433L	p.S365L			Q8IZF7	GP111_HUMAN			5	1143	+			433					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1094C>T		.	.	.	.	.	.	.	.	.	.	C	26.8	4.776083	0.90195	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.71698	-0.59;-0.59;-0.59	5.53	5.53	0.82687	GPS domain (2);	0.000000	0.56097	D	0.000033	D	0.84388	0.5461	M	0.86178	2.8	0.47094	D	0.999313	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86473	0.1786	10	0.87932	D	0	.	18.4477	0.90691	0.0:1.0:0.0:0.0	.	365;433	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	L	365;433;365	ENSP00000422934:S365L;ENSP00000296862:S433L;ENSP00000381727:S365L	ENSP00000296862:S433L	S	+	2	0	GPR111	47757552	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.791000	0.85805	2.603000	0.88011	0.591000	0.81541	TCA		0.438	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		14	101	0	0	0	1	0	14	101				
OR10J1	26476	broad.mit.edu	37	1	159410358	159410358	+	Silent	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:159410358C>G	ENST00000423932.3	+	1	847	c.810C>G	c.(808-810)ctC>ctG	p.L270L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	270					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TTGCCTACCTCAAGCCCAAGT	0.527																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(808-810)ctC>ctG		olfactory receptor, family 10, subfamily J, member 1							161.0	132.0	141.0					1																	159410358		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410358C>G	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.810C>G	1.37:g.159410358C>G						RP11-550P17.5_ENST00000431862.1_RNA	p.L270L	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	847	+	all_hematologic(112;0.0429)		270					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.810C>G	CCDS1185.1																																																																																				0.527	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		8	120	0	0	0	1	0	8	120				
RERGL	79785	broad.mit.edu	37	12	18234143	18234143	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:18234143C>G	ENST00000229002.2	-	6	806	c.600G>C	c.(598-600)aaG>aaC	p.K200N	RERGL_ENST00000538724.1_Missense_Mutation_p.K199N|RERGL_ENST00000541632.1_5'Flank	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	200	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTTCCTTCTCTTTCCAAATA	0.338																																						ENST00000229002.2																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(598-600)aaG>aaC		RERG/RAS-like							97.0	92.0	93.0					12																	18234143		2203	4300	6503	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18234143C>G	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.600G>C	12.37:g.18234143C>G	ENSP00000229002:p.Lys200Asn					RERGL_ENST00000538724.1_Missense_Mutation_p.K199N	p.K200N	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN			6	806	-			200			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.600G>C	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397234	0.83120	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.77358	-1.02;-1.09	5.01	5.01	0.66863	.	0.119416	0.53938	D	0.000047	D	0.82719	0.5098	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.988;0.994	D	0.84953	0.0872	10	0.87932	D	0	.	16.8446	0.85977	0.0:1.0:0.0:0.0	.	199;200	F5H686;Q9H628	.;RERGL_HUMAN	N	200;199	ENSP00000229002:K200N;ENSP00000437814:K199N	ENSP00000229002:K200N	K	-	3	2	RERGL	18125410	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.455000	0.52993	2.462000	0.83206	0.563000	0.77884	AAG		0.338	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		13	21	0	0	0	1	0	13	21				
NAPG	8774	broad.mit.edu	37	18	10539865	10539865	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr18:10539865G>A	ENST00000322897.6	+	6	434	c.365G>A	c.(364-366)gGa>gAa	p.G122E	NAPG_ENST00000542979.1_Missense_Mutation_p.G40E	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	122					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						GAGCGAGCTGGAAAGTGAGTG	0.443																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(364-366)gGa>gAa		N-ethylmaleimide-sensitive factor attachment protein, gamma							75.0	74.0	75.0					18																	10539865		1950	4143	6093	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10539865G>A	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.365G>A	18.37:g.10539865G>A	ENSP00000324628:p.Gly122Glu					NAPG_ENST00000542979.1_Missense_Mutation_p.G40E	p.G122E	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			6	434	+			122					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.365G>A	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907879	0.92107	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	D;D	0.83591	-1.74;-1.74	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.68952	2.095	0.80722	D	1	D	0.65815	0.995	P	0.55615	0.78	D	0.89247	0.3588	10	0.87932	D	0	-13.0378	19.1118	0.93319	0.0:0.0:1.0:0.0	.	122	Q99747	SNAG_HUMAN	E	122;40	ENSP00000324628:G122E;ENSP00000442849:G40E	ENSP00000324628:G122E	G	+	2	0	NAPG	10529865	1.000000	0.71417	0.990000	0.47175	0.686000	0.39977	9.203000	0.95033	2.759000	0.94783	0.561000	0.74099	GGA		0.443	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		12	49	0	0	0	1	0	12	49				
NKD2	85409	broad.mit.edu	37	5	1037993	1037993	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:1037993G>C	ENST00000296849.5	+	10	1090	c.861G>C	c.(859-861)caG>caC	p.Q287H	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	287					exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CCCGCTCCCAGGAGCCAGATA	0.687																																						ENST00000296849.5																			0				breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(859-861)caG>caC		naked cuticle homolog 2 (Drosophila)							19.0	20.0	19.0					5																	1037993		2198	4287	6485	SO:0001583	missense	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1037993G>C	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.861G>C	5.37:g.1037993G>C	ENSP00000296849:p.Gln287His					NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	p.Q287H	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		10	1090	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		287					Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	c.861G>C	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.205496	0.01568	.	.	ENSG00000145506	ENST00000296849	T	0.44083	0.93	3.67	1.77	0.24775	.	0.261365	0.32093	N	0.006591	T	0.41994	0.1183	L	0.33339	1.005	0.80722	D	1	D	0.64830	0.994	P	0.62740	0.906	T	0.26360	-1.0105	10	0.09590	T	0.72	-8.6933	9.205	0.37285	0.2163:0.0:0.7837:0.0	.	287	Q969F2	NKD2_HUMAN	H	287	ENSP00000296849:Q287H	ENSP00000296849:Q287H	Q	+	3	2	NKD2	1090993	1.000000	0.71417	0.131000	0.22000	0.024000	0.10985	0.531000	0.23052	-0.222000	0.09958	-1.842000	0.00583	CAG		0.687	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		5	22	0	0	0	1	0	5	22				
GPR17	2840	broad.mit.edu	37	2	128408991	128408991	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:128408991C>T	ENST00000272644.3	+	3	840	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000544369.1_Missense_Mutation_p.R256C|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.R256C|LIMS2_ENST00000324938.5_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	256					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TGTGGAGAAGCGCCTCAAGAC	0.622																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(766-768)Cgc>Tgc		G protein-coupled receptor 17							136.0	114.0	122.0					2																	128408991		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408991C>T		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.766C>T	2.37:g.128408991C>T	ENSP00000272644:p.Arg256Cys					LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.R256C|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.R256C|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron	p.R256C	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1377	+	Colorectal(110;0.1)	Ovarian(717;0.15)	256					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.766C>T	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	.	16.48	3.134123	0.56828	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.46451	0.87;0.87;0.87	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.403033	0.28630	N	0.014667	T	0.44244	0.1284	L	0.45228	1.405	0.37047	D	0.897395	D	0.56287	0.975	P	0.48901	0.594	T	0.52403	-0.8580	10	0.54805	T	0.06	.	13.943	0.64066	0.1519:0.8481:0.0:0.0	.	256	Q13304	GPR17_HUMAN	C	256	ENSP00000442982:R256C;ENSP00000272644:R256C;ENSP00000376741:R256C	ENSP00000272644:R256C	R	+	1	0	GPR17	128125461	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.362000	0.44169	2.504000	0.84457	0.561000	0.74099	CGC		0.622	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			4	102	0	0	0	1	0	4	102				
HHAT	55733	broad.mit.edu	37	1	210796934	210796934	+	Missense_Mutation	SNP	C	C	T	rs113371678		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:210796934C>T	ENST00000367010.1	+	11	1537	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	HHAT_ENST00000413764.2_Missense_Mutation_p.S437L|HHAT_ENST00000308852.6_Missense_Mutation_p.S392L|HHAT_ENST00000545154.1_Missense_Mutation_p.S438L|HHAT_ENST00000545781.1_Missense_Mutation_p.S374L|HHAT_ENST00000391905.3_Missense_Mutation_p.S437L|HHAT_ENST00000261458.3_Missense_Mutation_p.S437L|HHAT_ENST00000367009.1_Missense_Mutation_p.S127L|HHAT_ENST00000541565.1_Missense_Mutation_p.S300L|HHAT_ENST00000537898.1_Missense_Mutation_p.S372L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	437					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGTTCCACCTCGATGCTGATC	0.498																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1309-1311)tCg>tTg		hedgehog acyltransferase							301.0	277.0	285.0					1																	210796934		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796934C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1310C>T	1.37:g.210796934C>T	ENSP00000355977:p.Ser437Leu					HHAT_ENST00000391905.3_Missense_Mutation_p.S437L|HHAT_ENST00000541565.1_Missense_Mutation_p.S300L|HHAT_ENST00000261458.3_Missense_Mutation_p.S437L|HHAT_ENST00000537898.1_Missense_Mutation_p.S372L|HHAT_ENST00000308852.6_Missense_Mutation_p.S392L|HHAT_ENST00000545781.1_Missense_Mutation_p.S374L|HHAT_ENST00000545154.1_Missense_Mutation_p.S438L|HHAT_ENST00000367009.1_Missense_Mutation_p.S127L|HHAT_ENST00000413764.2_Missense_Mutation_p.S437L	p.S437L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1537	+			437					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1310C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390299	0.82902	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.87	4.94	0.65067	.	0.140219	0.47455	D	0.000237	T	0.72011	0.3408	L	0.57536	1.79	0.38291	D	0.942711	D;D;D;D;D	0.60575	0.988;0.985;0.982;0.963;0.988	P;P;P;B;P	0.51945	0.664;0.534;0.539;0.352;0.685	T	0.71262	-0.4645	10	0.09590	T	0.72	-24.0443	14.1604	0.65443	0.0:0.8499:0.15:0.0	.	392;438;300;372;437	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	L	437;300;438;372;437;374;437;392;437;127	ENSP00000416845:S437L;ENSP00000444995:S300L;ENSP00000438468:S438L;ENSP00000442625:S372L;ENSP00000375773:S437L;ENSP00000439229:S374L;ENSP00000261458:S437L;ENSP00000308628:S392L;ENSP00000355977:S437L;ENSP00000355976:S127L	ENSP00000261458:S437L	S	+	2	0	HHAT	208863557	0.986000	0.35501	0.693000	0.30195	0.874000	0.50279	5.543000	0.67225	1.438000	0.47492	0.650000	0.86243	TCG		0.498	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		71	293	0	0	0	1	0	71	293				
SPINT2	10653	broad.mit.edu	37	19	38782595	38782595	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:38782595G>T	ENST00000301244.7	+	7	1143	c.708G>T	c.(706-708)tgG>tgT	p.W236C	SPINT2_ENST00000454580.3_Missense_Mutation_p.W179C|SPINT2_ENST00000587090.1_Missense_Mutation_p.W186C|Y_RNA_ENST00000363339.1_RNA|CTB-102L5.4_ENST00000591889.1_Intron	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	236					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCACCGTCTGGAGCTCCGGAG	0.602																																						ENST00000301244.7																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(706-708)tgG>tgT		serine peptidase inhibitor, Kunitz type, 2							61.0	48.0	53.0					19																	38782595		2203	4300	6503	SO:0001583	missense	10653				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity	g.chr19:38782595G>T	U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"""placental bikunin"""	605124	"""serine protease inhibitor, Kunitz type, 2"""			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.708G>T	19.37:g.38782595G>T	ENSP00000301244:p.Trp236Cys					SPINT2_ENST00000454580.3_Missense_Mutation_p.W179C|CTB-102L5.4_ENST00000591889.1_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.W186C	p.W236C	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		7	1143	+	all_cancers(60;6.83e-07)		236					A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	ENST00000301244.7	37	c.708G>T	CCDS12510.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428529	0.62844	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.62788	0.39;0.0	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000019	T	0.78438	0.4283	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.78947	-0.2003	10	0.62326	D	0.03	.	15.854	0.78960	0.0:0.0:1.0:0.0	.	179;236	B4DLU1;O43291	.;SPIT2_HUMAN	C	236;179	ENSP00000301244:W236C;ENSP00000389788:W179C	ENSP00000301244:W236C	W	+	3	0	SPINT2	43474435	1.000000	0.71417	0.999000	0.59377	0.440000	0.31957	5.012000	0.64017	2.826000	0.97356	0.655000	0.94253	TGG		0.602	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458151.2			10	27	1	0	3.07112e-06	1	3.13379e-06	10	27				
NBPF1	55672	broad.mit.edu	37	1	16902903	16902903	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:16902903C>G	ENST00000430580.2	-	19	2865	c.1978G>C	c.(1978-1980)Gat>Cat	p.D660H	NBPF1_ENST00000432949.1_Missense_Mutation_p.D118H|NBPF1_ENST00000287968.8_Missense_Mutation_p.D25H|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	660						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGGAGGCATCTCTCCCTTCC	0.532																																						ENST00000430580.2																			0											c.(1978-1980)Gat>Cat		neuroblastoma breakpoint family, member 1							85.0	132.0	115.0					1																	16902903		1465	2684	4149	SO:0001583	missense	55672					cytoplasm		g.chr1:16902903C>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1978G>C	1.37:g.16902903C>G	ENSP00000474456:p.Asp660His					NBPF1_ENST00000432949.1_Missense_Mutation_p.D118H|NBPF1_ENST00000287968.8_Missense_Mutation_p.D25H	p.D660H	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2865	-			660					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1978G>C																																																																																					0.532	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		11	398	0	0	0	1	0	11	398				
PCDHA1	56147	broad.mit.edu	37	5	140167659	140167659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:140167659G>A	ENST00000504120.2	+	1	1784	c.1784G>A	c.(1783-1785)cGc>cAc	p.R595H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R595H|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	595	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.692																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1783-1785)cGc>cAc									103.0	97.0	99.0					5																	140167659		2203	4299	6502	SO:0001583	missense	56147							g.chr5:140167659G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1784G>A	5.37:g.140167659G>A	ENSP00000420840:p.Arg595His					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R595H	p.R595H	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1784	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1784G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	6.997	0.554189	0.13374	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52526	0.66;0.66	3.36	3.36	0.38483	Cadherin (4);Cadherin-like (1);	0.000000	0.35525	U	0.003144	T	0.34861	0.0912	L	0.58583	1.82	0.09310	N	1	B;B	0.33549	0.417;0.171	B;B	0.26202	0.052;0.067	T	0.24119	-1.0169	10	0.37606	T	0.19	.	4.2706	0.10785	0.2177:0.2215:0.5608:0.0	.	595;595	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	H	595	ENSP00000420840:R595H;ENSP00000367373:R595H	ENSP00000367373:R595H	R	+	2	0	PCDHA1	140147843	0.000000	0.05858	1.000000	0.80357	0.370000	0.29829	-0.305000	0.08188	1.572000	0.49736	0.484000	0.47621	CGC		0.692	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		33	140	0	0	0	1	0	33	140				
HTR3C	170572	broad.mit.edu	37	3	183778026	183778026	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:183778026G>A	ENST00000318351.1	+	9	1264	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	410					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAAAGACCCAGCTAATGGAGC	0.597																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(1228-1230)caG>caA		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							154.0	136.0	142.0					3																	183778026		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183778026G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.1230G>A	3.37:g.183778026G>A							p.Q410Q	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1264	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		410					A2RRR5	Silent	SNP	ENST00000318351.1	37	c.1230G>A	CCDS3250.1																																																																																				0.597	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		39	121	0	0	0	1	0	39	121				
TUBGCP6	85378	broad.mit.edu	37	22	50662572	50662572	+	Silent	SNP	C	C	T	rs368982253		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr22:50662572C>T	ENST00000248846.5	-	13	2372	c.2268G>A	c.(2266-2268)gcG>gcA	p.A756A	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Silent_p.A756A			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	756					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCCCTACCTCGCCTTCCTCT	0.577																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(2266-2268)gcG>gcA		tubulin, gamma complex associated protein 6		C		1,4405	2.1+/-5.4	0,1,2202	34.0	38.0	37.0		2268	-6.8	1.0	22		37	0,8600		0,0,4300	no	coding-synonymous	TUBGCP6	NM_020461.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		756/1820	50662572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50662572C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2268G>A	22.37:g.50662572C>T						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.A756A	p.A756A	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	13	2760	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	756					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.2268G>A	CCDS14087.1																																																																																				0.577	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		9	44	0	0	0	1	0	9	44				
TRIM36	55521	broad.mit.edu	37	5	114499269	114499269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:114499269G>A	ENST00000282369.3	-	2	365	c.244C>T	c.(244-246)Cga>Tga	p.R82*	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Nonsense_Mutation_p.R70*	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(208-210)Cga>Tga		tripartite motif containing 36							139.0	131.0	134.0					5																	114499269		2202	4300	6502	SO:0001587	stop_gained	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499269G>A	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.244C>T	5.37:g.114499269G>A	ENSP00000282369:p.Arg82*					TRIM36_ENST00000282369.3_Nonsense_Mutation_p.R82*|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron	p.R70*			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	534	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	82					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Nonsense_Mutation	SNP	ENST00000282369.3	37	c.208C>T	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	39	7.404857	0.98262	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	.	.	.	5.31	4.41	0.53225	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.9924	0.71399	0.0:0.0:0.8562:0.1438	.	.	.	.	X	82;70;70	.	ENSP00000282369:R82X	R	-	1	2	TRIM36	114527168	1.000000	0.71417	0.978000	0.43139	0.999000	0.98932	4.088000	0.57678	1.163000	0.42636	0.655000	0.94253	CGA		0.453	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		17	72	0	0	0	1	0	17	72				
DUSP19	142679	broad.mit.edu	37	2	183960311	183960311	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:183960311C>T	ENST00000354221.4	+	4	754	c.579C>T	c.(577-579)ttC>ttT	p.F193F	AC064871.3_ENST00000413954.1_RNA|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Silent_p.F142F|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	193	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						ATTCTGGCTTCATGGAGCAGC	0.393																																						ENST00000354221.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						c.(577-579)ttC>ttT		dual specificity phosphatase 19							123.0	120.0	121.0					2																	183960311		2203	4300	6503	SO:0001819	synonymous_variant	142679				JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	g.chr2:183960311C>T	AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.579C>T	2.37:g.183960311C>T						DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000342619.6_Silent_p.F142F	p.F193F	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN			4	754	+			193			Tyrosine-protein phosphatase.		B2RA79|Q547H4|Q8WYN4	Silent	SNP	ENST00000354221.4	37	c.579C>T	CCDS2289.1																																																																																				0.393	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			18	85	0	0	0	1	0	18	85				
LRRN1	57633	broad.mit.edu	37	3	3886722	3886722	+	Missense_Mutation	SNP	G	G	A	rs377314657		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:3886722G>A	ENST00000319331.3	+	2	1158	c.397G>A	c.(397-399)Gag>Aag	p.E133K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	133						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCAGATTACCGAGATGACTGA	0.428																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(397-399)Gag>Aag		leucine rich repeat neuronal 1		G	LYS/GLU	1,4405		0,1,2202	71.0	73.0	72.0		397	5.8	0.9	3		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRRN1	NM_020873.5	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	133/717	3886722	2,13004	2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886722G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.397G>A	3.37:g.3886722G>A	ENSP00000314901:p.Glu133Lys					SUMF1_ENST00000534863.1_Intron	p.E133K	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1158	+			133					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.397G>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827638	0.71143	2.27E-4	1.16E-4	ENSG00000175928	ENST00000319331	T	0.57436	0.4	5.76	5.76	0.90799	.	0.048895	0.85682	D	0.000000	T	0.35711	0.0941	N	0.17594	0.5	0.80722	D	1	P	0.38504	0.634	B	0.29942	0.109	T	0.16217	-1.0410	10	0.18276	T	0.48	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	133	Q6UXK5	LRRN1_HUMAN	K	133	ENSP00000314901:E133K	ENSP00000314901:E133K	E	+	1	0	LRRN1	3861722	1.000000	0.71417	0.883000	0.34634	0.807000	0.45602	9.787000	0.99055	2.713000	0.92767	0.655000	0.94253	GAG		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		8	65	0	0	0	1	0	8	65				
ZNF43	7594	broad.mit.edu	37	19	21991719	21991719	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:21991719C>T	ENST00000354959.4	-	4	1289	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	ZNF43_ENST00000598381.1_Missense_Mutation_p.E368K|ZNF43_ENST00000594012.1_Missense_Mutation_p.E368K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E368K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	374					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCACCACATTCTGTACATTTA	0.368																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1102-1104)Gaa>Aaa		zinc finger protein 43							64.0	64.0	64.0					19																	21991719		2203	4300	6503	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991719C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1120G>A	19.37:g.21991719C>T	ENSP00000347045:p.Glu374Lys					ZNF43_ENST00000598381.1_Missense_Mutation_p.E368K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E368K|ZNF43_ENST00000354959.4_Missense_Mutation_p.E374K	p.E368K	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	1616	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	374					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1102G>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120793	0.37436	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.07327	3.2	1.86	-3.72	0.04411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16428	0.0395	L	0.49256	1.55	0.09310	N	1	D	0.71674	0.998	D	0.75484	0.986	T	0.13602	-1.0503	9	0.52906	T	0.07	.	6.0944	0.20013	0.0:0.5193:0.3484:0.1323	.	374	P17038	ZNF43_HUMAN	K	373;374	ENSP00000347045:E374K	ENSP00000347045:E374K	E	-	1	0	ZNF43	21783559	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.029000	0.03585	-0.318000	0.08665	-0.450000	0.05554	GAA		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		13	67	0	0	0	1	0	13	67				
NADK	65220	broad.mit.edu	37	1	1686840	1686840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:1686840G>A	ENST00000341426.5	-	7	882	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	NADK_ENST00000344463.4_Nonsense_Mutation_p.Q366*|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000341991.3_Nonsense_Mutation_p.Q221*|NADK_ENST00000342348.5_Nonsense_Mutation_p.Q189*|NADK_ENST00000378625.1_Nonsense_Mutation_p.Q366*	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	221					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ACTTGGGACTGAAAGTTCTCA	0.592																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1096-1098)Cag>Tag		NAD kinase							166.0	167.0	167.0					1																	1686840		2203	4300	6503	SO:0001587	stop_gained	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1686840G>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.661C>T	1.37:g.1686840G>A	ENSP00000341679:p.Gln221*					NADK_ENST00000341991.3_Nonsense_Mutation_p.Q221*|NADK_ENST00000378625.1_Nonsense_Mutation_p.Q366*|NADK_ENST00000341426.5_Nonsense_Mutation_p.Q221*|NADK_ENST00000342348.5_Nonsense_Mutation_p.Q189*	p.Q366*			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	9	1317	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	221					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Nonsense_Mutation	SNP	ENST00000341426.5	37	c.1096C>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	G	38	6.792250	0.97841	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	.	.	.	5.04	4.12	0.48240	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-26.1909	14.6244	0.68611	0.0:0.1466:0.8534:0.0	.	.	.	.	X	221;221;366;366;189;189	.	ENSP00000341679:Q221X	Q	-	1	0	NADK	1676700	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.133000	0.71682	1.232000	0.43678	0.462000	0.41574	CAG		0.592	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		60	197	0	0	0	1	0	60	197				
FERD3L	222894	broad.mit.edu	37	7	19184632	19184632	+	Silent	SNP	G	G	A	rs368972267		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:19184632G>A	ENST00000275461.3	-	1	412	c.354C>T	c.(352-354)aaC>aaT	p.N118N	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	118	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CAAAGGCCTCGTTGAGGTTGA	0.592																																						ENST00000275461.3																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(352-354)aaC>aaT		Fer3-like bHLH transcription factor							107.0	85.0	92.0					7																	19184632		2203	4300	6503	SO:0001819	synonymous_variant	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184632G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.354C>T	7.37:g.19184632G>A						AC003986.5_ENST00000452700.1_RNA	p.N118N	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN			1	412	-			118			Helix-loop-helix motif.		Q495K0	Silent	SNP	ENST00000275461.3	37	c.354C>T	CCDS5368.1																																																																																				0.592	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			14	34	0	0	0	1	0	14	34				
CDH4	1002	broad.mit.edu	37	20	60503417	60503417	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:60503417C>T	ENST00000360469.5	+	12	2029	c.1941C>T	c.(1939-1941)taC>taT	p.Y647Y	CDH4_ENST00000543233.1_Silent_p.Y573Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	647	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y647Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCGGCCCCTACGTCTTCGAGC	0.652																																						ENST00000360469.5																			1	Substitution - coding silent(1)	p.Y647Y(1)	large_intestine(1)	NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1939-1941)taC>taT		cadherin 4, type 1, R-cadherin (retinal)							80.0	81.0	81.0					20																	60503417		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60503417C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1941C>T	20.37:g.60503417C>T						CDH4_ENST00000543233.1_Silent_p.Y573Y	p.Y647Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		12	2029	+			647			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.1941C>T	CCDS13488.1																																																																																				0.652	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		29	148	0	0	0	1	0	29	148				
PLEKHB2	55041	broad.mit.edu	37	2	131904248	131904248	+	Nonsense_Mutation	SNP	C	C	T	rs376927744		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:131904248C>T	ENST00000403716.1	+	8	1131	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLEKHB2_ENST00000409612.1_Nonsense_Mutation_p.R191*|PLEKHB2_ENST00000439822.2_Silent_p.F146F|PLEKHB2_ENST00000234115.6_Nonsense_Mutation_p.R190*|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000409158.1_Nonsense_Mutation_p.R199*|PLEKHB2_ENST00000409279.1_Nonsense_Mutation_p.R191*|PLEKHB2_ENST00000438882.2_Silent_p.F154F|PLEKHB2_ENST00000538982.1_Nonsense_Mutation_p.R143*	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	191						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		AGTCATCATTCGAGAGCGCTA	0.507																																						ENST00000403716.1																			0				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(571-573)Cga>Tga		pleckstrin homology domain containing, family B (evectins) member 2		C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	176.0	183.0	181.0		571,568	3.6	1.0	2		181	0,8600		0,0,4300	no	stop-gained,stop-gained	PLEKHB2	NM_001100623.1,NM_017958.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	191/223,190/222	131904248	1,13005	2203	4300	6503	SO:0001587	stop_gained	55041					membrane	protein binding	g.chr2:131904248C>T		CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.571C>T	2.37:g.131904248C>T	ENSP00000385892:p.Arg191*					PLEKHB2_ENST00000538982.1_Nonsense_Mutation_p.R143*|PLEKHB2_ENST00000409158.1_Nonsense_Mutation_p.R199*|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000234115.6_Nonsense_Mutation_p.R190*|PLEKHB2_ENST00000438882.2_Silent_p.F154F|PLEKHB2_ENST00000439822.2_Silent_p.F146F|PLEKHB2_ENST00000409612.1_Nonsense_Mutation_p.R191*|PLEKHB2_ENST00000409279.1_Nonsense_Mutation_p.R191*|PLEKHB2_ENST00000404460.1_Intron	p.R191*	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0828)	8	1131	+			191					B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Nonsense_Mutation	SNP	ENST00000403716.1	37	c.571C>T	CCDS46413.1	.	.	.	.	.	.	.	.	.	.	C	40	8.172862	0.98688	2.27E-4	0.0	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279	.	.	.	5.59	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9984	0.58662	0.2368:0.7632:0.0:0.0	.	.	.	.	X	199;191;190;143;191;191	.	ENSP00000234115:R190X	R	+	1	2	PLEKHB2	131620718	0.991000	0.36638	0.957000	0.39632	0.824000	0.46624	1.396000	0.34531	2.654000	0.90174	0.644000	0.83932	CGA		0.507	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331304.2	NM_017958		61	210	0	0	0	1	0	61	210				
ARID1A	8289	broad.mit.edu	37	1	27058005	27058005	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:27058005G>A	ENST00000324856.7	+	3	2084	c.1713G>A	c.(1711-1713)tcG>tcA	p.S571S	ARID1A_ENST00000457599.2_Silent_p.S571S|ARID1A_ENST00000374152.2_Silent_p.S188S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	571					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCACCCTCGACGCTCTCCC	0.622			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1711-1713)tcG>tcA		AT rich interactive domain 1A (SWI-like)							153.0	153.0	153.0					1																	27058005		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27058005G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1713G>A	1.37:g.27058005G>A						ARID1A_ENST00000457599.2_Silent_p.S571S|ARID1A_ENST00000374152.2_Silent_p.S188S	p.S571S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2084	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	571					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.1713G>A	CCDS285.1																																																																																				0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		5	377	0	0	0	1	0	5	377				
KIAA0586	9786	broad.mit.edu	37	14	58932576	58932576	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:58932576A>C	ENST00000556134.1	+	16	2312	c.2038A>C	c.(2038-2040)Aca>Cca	p.T680P	KIAA0586_ENST00000423743.3_Missense_Mutation_p.T651P|KIAA0586_ENST00000261244.5_Missense_Mutation_p.T619P|KIAA0586_ENST00000354386.6_Missense_Mutation_p.T748P|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	680					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCAATAAGAACACAGACTGA	0.333																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1951-1953)Aca>Cca		KIAA0586							108.0	98.0	101.0					14																	58932576		1852	4096	5948	SO:0001583	missense	9786							g.chr14:58932576A>C	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2038A>C	14.37:g.58932576A>C	ENSP00000452351:p.Thr680Pro					KIAA0586_ENST00000556134.1_Missense_Mutation_p.T680P|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.T748P|KIAA0586_ENST00000261244.5_Missense_Mutation_p.T619P	p.T651P	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			16	2209	+			619					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.1951A>C	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874436	0.72180	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000004	T	0.64057	0.2564	L	0.34521	1.04	0.39600	D	0.969714	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.988;0.988;0.999;0.996;0.992;0.992	T	0.68569	-0.5374	10	0.87932	D	0	.	9.6027	0.39615	0.9218:0.0:0.0782:0.0	.	555;555;748;619;680;651	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	P	748;680;651;619;555	ENSP00000346359:T748P;ENSP00000452351:T680P;ENSP00000399427:T651P;ENSP00000261244:T619P	ENSP00000261244:T619P	T	+	1	0	KIAA0586	58002329	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.300000	0.65721	1.963000	0.57068	0.533000	0.62120	ACA		0.333	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		14	52	0	0	0	1	0	14	52				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	89	0	0	0	1	0	5	89				
CSNK2A1	1457	broad.mit.edu	37	20	470429	470429	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:470429C>T	ENST00000217244.3	-	10	1093	c.718G>A	c.(718-720)Gat>Aat	p.D240N	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D240N|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D240N|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.D104N	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATTACCTGATCATAATTGTCA	0.398																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(718-720)Gat>Aat		casein kinase 2, alpha 1 polypeptide							81.0	70.0	74.0					20																	470429		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470429C>T	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.718G>A	20.37:g.470429C>T	ENSP00000217244:p.Asp240Asn					CSNK2A1_ENST00000400217.1_Missense_Mutation_p.D104N|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D240N|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D240N|CSNK2A1_ENST00000460062.1_5'UTR	p.D240N	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1093	-		Breast(17;0.231)	240			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.718G>A	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402065	0.96030	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041485	0.85682	D	0.000000	T	0.79656	0.4483	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80525	-0.1344	10	0.62326	D	0.03	-9.9057	17.7447	0.88416	0.0:1.0:0.0:0.0	.	240	P68400	CSK21_HUMAN	N	240;240;240;240;104	ENSP00000383086:D240N;ENSP00000339247:D240N;ENSP00000217244:D240N;ENSP00000383076:D104N	ENSP00000217244:D240N	D	-	1	0	CSNK2A1	418429	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.563000	0.82314	2.741000	0.93983	0.585000	0.79938	GAT		0.398	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		5	38	0	0	0	1	0	5	38				
FANCD2	2177	broad.mit.edu	37	3	10085540	10085540	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:10085540G>A	ENST00000419585.1	+	14	1287	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	FANCD2_ENST00000383806.1_Missense_Mutation_p.E376K|FANCD2_ENST00000287647.3_Missense_Mutation_p.E376K|FANCD2_ENST00000383807.1_Missense_Mutation_p.E376K			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	376					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTCAGTATCTGAACACAAGGT	0.398			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(1126-1128)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							73.0	68.0	70.0					3																	10085540		2202	4298	6500	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10085540G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1126G>A	3.37:g.10085540G>A	ENSP00000398754:p.Glu376Lys					FANCD2_ENST00000419585.1_Missense_Mutation_p.E376K|FANCD2_ENST00000383807.1_Missense_Mutation_p.E376K|FANCD2_ENST00000383806.1_Missense_Mutation_p.E376K	p.E376K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	14	1219	+			376					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1126G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398902	0.25291	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	4.82	3.95	0.45737	.	0.438288	0.26673	N	0.023081	T	0.45276	0.1334	M	0.65975	2.015	0.37217	D	0.90507	B;B	0.11235	0.004;0.004	B;B	0.11329	0.004;0.006	T	0.47787	-0.9090	10	0.40728	T	0.16	.	10.8887	0.46984	0.0931:0.0:0.9069:0.0	.	376;376	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	K	376	ENSP00000287647:E376K;ENSP00000373318:E376K;ENSP00000373317:E376K;ENSP00000398754:E376K	ENSP00000287647:E376K	E	+	1	0	FANCD2	10060540	1.000000	0.71417	0.630000	0.29268	0.123000	0.20343	5.228000	0.65310	1.038000	0.40049	0.298000	0.19748	GAA		0.398	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			7	19	0	0	0	1	0	7	19				
SERPINA6	866	broad.mit.edu	37	14	94776138	94776138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:94776138C>T	ENST00000341584.3	-	3	965	c.819G>A	c.(817-819)atG>atA	p.M273I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	273					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGACTGTGTTCATCTTCCCCT	0.542																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(817-819)atG>atA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						169.0	122.0	138.0					14																	94776138		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94776138C>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.819G>A	14.37:g.94776138C>T	ENSP00000342850:p.Met273Ile						p.M273I	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	965	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	273					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.819G>A	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806774	0.31961	.	.	ENSG00000170099	ENST00000341584	D	0.83335	-1.71	5.03	0.0607	0.14337	Serpin domain (3);	0.508572	0.20340	N	0.094255	T	0.81312	0.4796	L	0.52364	1.645	0.39167	D	0.962527	P	0.46656	0.882	P	0.51974	0.686	T	0.78033	-0.2362	10	0.72032	D	0.01	.	6.3209	0.21217	0.0:0.6028:0.1221:0.2751	.	273	P08185	CBG_HUMAN	I	273	ENSP00000342850:M273I	ENSP00000342850:M273I	M	-	3	0	SERPINA6	93845891	1.000000	0.71417	0.929000	0.37066	0.059000	0.15707	2.158000	0.42329	-0.083000	0.12618	0.655000	0.94253	ATG		0.542	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		27	87	0	0	0	1	0	27	87				
NUDT16	131870	broad.mit.edu	37	3	131100765	131100765	+	Silent	SNP	C	C	T	rs369569819		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:131100765C>T	ENST00000521288.1	+	1	148	c.117C>T	c.(115-117)atC>atT	p.I39I	NUDT16_ENST00000537561.1_Intron|NUDT16_ENST00000359850.3_Silent_p.I6I|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000502852.1_Silent_p.I39I			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	39	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						TCGGCCGCATCCCGCTGCGCT	0.721																																						ENST00000359850.3																			0				large_intestine(1)|lung(6)	7						c.(16-18)atC>atT		nudix (nucleoside diphosphate linked moiety X)-type motif 16							22.0	30.0	27.0					3																	131100765		2200	4298	6498	SO:0001819	synonymous_variant	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131100765C>T	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.117C>T	3.37:g.131100765C>T						NUDT16_ENST00000521288.1_Silent_p.I39I|NUDT16_ENST00000537561.1_Intron|NUDT16_ENST00000502852.1_Silent_p.I39I	p.I6I	NM_152395.2	NP_689608.2	Q96DE0	NUD16_HUMAN			1	157	+			39					B4E3B4|E9PED4|F5GYJ1|Q96N82	Silent	SNP	ENST00000521288.1	37	c.18C>T	CCDS3070.2																																																																																				0.721	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395		6	38	0	0	0	1	0	6	38				
TBC1D24	57465	broad.mit.edu	37	16	2550908	2550908	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:2550908C>T	ENST00000293970.5	+	8	1762	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	TBC1D24_ENST00000567020.1_Silent_p.F537F|TBC1D24_ENST00000434757.2_Silent_p.F543F|RP11-20I23.1_ENST00000564543.1_Intron	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	543	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCGAGAACTTCCTCATTGCTG	0.672											OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(1609-1611)ttC>ttT		TBC1 domain family, member 24							57.0	71.0	66.0					16																	2550908		2135	4251	6386	SO:0001819	synonymous_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2550908C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1629C>T	16.37:g.2550908C>T			OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	604	TBC1D24_ENST00000293970.5_Silent_p.F543F|TBC1D24_ENST00000434757.2_Silent_p.F543F|RP11-20I23.1_ENST00000564543.1_Intron	p.F537F	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			7	1751	+			543			TLD.		A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	ENST00000293970.5	37	c.1611C>T	CCDS55980.1																																																																																				0.672	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		5	44	0	0	0	1	0	5	44				
FANCD2	2177	broad.mit.edu	37	3	10085242	10085242	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:10085242G>A	ENST00000419585.1	+	13	1225	c.1064G>A	c.(1063-1065)aGa>aAa	p.R355K	FANCD2_ENST00000383806.1_Missense_Mutation_p.R355K|FANCD2_ENST00000287647.3_Missense_Mutation_p.R355K|FANCD2_ENST00000383807.1_Missense_Mutation_p.R355K			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	355	Interaction with BRCA2.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCAGCTATTAGATATGAGAAA	0.368			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(1063-1065)aGa>aAa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							64.0	68.0	67.0					3																	10085242		2202	4300	6502	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10085242G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1064G>A	3.37:g.10085242G>A	ENSP00000398754:p.Arg355Lys					FANCD2_ENST00000419585.1_Missense_Mutation_p.R355K|FANCD2_ENST00000383807.1_Missense_Mutation_p.R355K|FANCD2_ENST00000383806.1_Missense_Mutation_p.R355K	p.R355K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	13	1157	+			355			Interaction with BRCA2.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1064G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978737	0.53720	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.99	4.12	0.48240	.	0.144599	0.64402	N	0.000020	T	0.51907	0.1702	M	0.64260	1.97	0.42596	D	0.993266	P;P	0.47302	0.893;0.725	B;B	0.40602	0.212;0.334	T	0.51787	-0.8661	10	0.31617	T	0.26	.	10.8885	0.46981	0.0922:0.0:0.9078:0.0	.	355;355	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	K	355	ENSP00000287647:R355K;ENSP00000373318:R355K;ENSP00000373317:R355K;ENSP00000398754:R355K	ENSP00000287647:R355K	R	+	2	0	FANCD2	10060242	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.636000	0.67848	1.109000	0.41680	0.454000	0.30748	AGA		0.368	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			10	50	0	0	0	1	0	10	50				
PCSK5	5125	broad.mit.edu	37	9	78936474	78936474	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:78936474G>A	ENST00000545128.1	+	30	4478	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1314	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAACTGCCCCGAGAGGCACGT	0.547																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(3940-3942)Gag>Aag		proprotein convertase subtilisin/kexin type 5							134.0	108.0	116.0					9																	78936474		876	1991	2867	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78936474G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3940G>A	9.37:g.78936474G>A	ENSP00000446280:p.Glu1314Lys						p.E1314K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			30	4478	+			726					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.3940G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890115	0.33348	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.30448	1.55;1.53	5.68	1.57	0.23409	.	0.584399	0.18150	N	0.150118	T	0.20292	0.0488	L	0.37897	1.145	0.23838	N	0.996708	.	.	.	.	.	.	T	0.25916	-1.0118	8	0.10636	T	0.68	-4.7658	6.8114	0.23807	0.1525:0.2681:0.5795:0.0	.	.	.	.	K	1314;1044;1014	ENSP00000446280:E1314K;ENSP00000411654:E1014K	ENSP00000365945:E1044K	E	+	1	0	PCSK5	78126294	0.132000	0.22450	0.038000	0.18304	0.671000	0.39405	0.243000	0.18106	0.279000	0.22186	0.655000	0.94253	GAG		0.547	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	75	0	0	0	1	0	8	75				
FAM187A	100528020	broad.mit.edu	37	17	42979942	42979942	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs562183648		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:42979942G>A	ENST00000331733.4	+	0	581				CCDC103_ENST00000417826.2_Silent_p.A162A|AC015936.3_ENST00000441312.1_RNA|EFTUD2_ENST00000426333.2_5'Flank|CCDC103_ENST00000410006.2_Silent_p.A162A|FAM187A_ENST00000412523.2_Intron	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	A6NFU0	F187A_HUMAN	family with sequence similarity 187, member A							integral component of membrane (GO:0016021)											ACCGGGCAGCGGTGCTGGGGA	0.632																																						ENST00000331733.4																			0													family with sequence similarity 187, member A							52.0	59.0	56.0					17																	42979942		2203	4300	6503			100528020							g.chr17:42979942G>A			17q21.31	2013-01-11			ENSG00000214447	ENSG00000214447		"""Immunoglobulin superfamily / V-set domain containing"""	35153	protein-coding gene	gene with protein product							Standard			Approved		uc002ihp.1	A6NFU0	OTTHUMG00000154266	ENST00000331733.4:c.-1256G>A	17.37:g.42979942G>A						CCDC103_ENST00000410006.2_Silent_p.A162A|FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000417826.2_Silent_p.A162A		NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1					0	581	+									Translation_Start_Site	SNP	ENST00000331733.4	37																																																																																						0.632	FAM187A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334584.1			7	114	0	0	0	1	0	7	114				
KCNC3	3748	broad.mit.edu	37	19	50831719	50831719	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:50831719G>A	ENST00000477616.1	-	1	915	c.621C>T	c.(619-621)ccC>ccT	p.P207P	KCNC3_ENST00000391818.2_Intron|NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000376959.2_Silent_p.P207P|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	207					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.A208fs*116(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CGGCGCCCGCGGGGTCGGGCG	0.776																																					Melanoma(91;1496 2324 50908)	ENST00000376959.2																			1	Deletion - Frameshift(1)	p.A208fs*116(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(619-621)ccC>ccT		potassium voltage-gated channel, Shaw-related subfamily, member 3							6.0	8.0	7.0					19																	50831719		2056	4117	6173	SO:0001819	synonymous_variant	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50831719G>A	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.621C>T	19.37:g.50831719G>A						KCNC3_ENST00000477616.1_Silent_p.P207P|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron	p.P207P			Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	1	784	-		all_neural(266;0.057)|Ovarian(192;0.208)	207						Silent	SNP	ENST00000477616.1	37	c.621C>T	CCDS12793.1																																																																																				0.776	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		3	25	0	0	0	1	0	3	25				
ORAI2	80228	broad.mit.edu	37	7	102087373	102087373	+	Silent	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:102087373C>G	ENST00000356387.2	+	4	874	c.639C>G	c.(637-639)gtC>gtG	p.V213V	ORAI2_ENST00000478730.2_Silent_p.V213V|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.V213V|ORAI2_ENST00000473939.1_Silent_p.V213V	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	213						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						TCTTCGTGGTCTTCACCATCC	0.662																																						ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(637-639)gtC>gtG		ORAI calcium release-activated calcium modulator 2							39.0	32.0	34.0					7																	102087373		2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087373C>G	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.639C>G	7.37:g.102087373C>G						ORAI2_ENST00000403646.3_Silent_p.V213V|ORAI2_ENST00000478730.1_Silent_p.V213V|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.V213V	p.V213V	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	874	+			213					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.639C>G	CCDS5722.1																																																																																				0.662	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		4	38	0	0	0	1	0	4	38				
RHOA	387	broad.mit.edu	37	3	49395178	49395178	+	IGR	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:49395178C>G	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_Missense_Mutation_p.E85D|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCTTGGCGTTCTCCTACAGGA	0.517																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.(253-255)gaG>gaC		glutathione peroxidase 1	Glutathione(DB00143)						44.0	46.0	45.0					3																	49395178		1942	4103	6045	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395178C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395178C>G						GPX1_ENST00000419349.1_3'UTR|GPX1_ENST00000496791.1_5'UTR	p.E85D	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	576	-			85					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.255G>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205262	0.79127	.	.	ENSG00000233276	ENST00000419783	T	0.16597	2.33	5.42	-0.663	0.11410	Thioredoxin-like fold (2);	0.054288	0.64402	D	0.000001	T	0.34861	0.0912	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.06499	-1.0823	10	0.87932	D	0	.	10.3025	0.43661	0.0:0.4847:0.0:0.5153	.	85	P07203	GPX1_HUMAN	D	85	ENSP00000407375:E85D	ENSP00000407375:E85D	E	-	3	2	GPX1	49370182	0.949000	0.32298	0.817000	0.32601	0.933000	0.57130	0.169000	0.16641	-0.213000	0.10094	-0.258000	0.10820	GAG		0.517	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		20	80	0	0	0	1	0	20	80				
TBL1Y	90665	broad.mit.edu	37	Y	6939823	6939823	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chrY:6939823G>A	ENST00000383032.1	+	12	1493	c.846G>A	c.(844-846)ctG>ctA	p.L282L	TBL1Y_ENST00000355162.2_Silent_p.L282L|TBL1Y_ENST00000346432.3_Silent_p.L282L	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTTCGCTCTGAAATGGAACA	0.388																																						ENST00000383032.1																			0				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(844-846)ctG>ctA		transducin (beta)-like 1, Y-linked							54.0	56.0	56.0					Y																	6939823		590	1912	2502	SO:0001819	synonymous_variant	90665				transcription, DNA-dependent			g.chrY:6939823G>A	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.846G>A	Y.37:g.6939823G>A						TBL1Y_ENST00000346432.3_Silent_p.L282L|TBL1Y_ENST00000355162.2_Silent_p.L282L	p.L282L	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN			12	1493	+			282					A1L4B3	Silent	SNP	ENST00000383032.1	37	c.846G>A	CCDS14779.1																																																																																				0.388	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		7	16	0	0	0	1	0	7	16				
C14orf182	283551	broad.mit.edu	37	14	50472359	50472359	+	Silent	SNP	G	G	A	rs200836841		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:50472359G>A	ENST00000399206.1	-	1	1879	c.159C>T	c.(157-159)ttC>ttT	p.F53F	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	53										large_intestine(2)|urinary_tract(1)	3						GCAAGAAGACGAAATGTCTGT	0.532																																						ENST00000399206.1																			0				large_intestine(2)|urinary_tract(1)	3						c.(157-159)ttC>ttT		chromosome 14 open reading frame 182							199.0	219.0	213.0					14																	50472359		2057	4193	6250	SO:0001819	synonymous_variant	283551							g.chr14:50472359G>A	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.159C>T	14.37:g.50472359G>A						C14orf182_ENST00000529902.1_5'UTR	p.F53F	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN			1	1879	-			53					A8MYX4	Silent	SNP	ENST00000399206.1	37	c.159C>T	CCDS41949.1																																																																																				0.532	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1	NM_001012706		37	174	0	0	0	1	0	37	174				
NDEL1	81565	broad.mit.edu	37	17	8354194	8354194	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:8354194C>G	ENST00000334527.7	+	6	820	c.623C>G	c.(622-624)tCc>tGc	p.S208C	NDEL1_ENST00000299734.7_Missense_Mutation_p.S208C|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Missense_Mutation_p.S208C|NDEL1_ENST00000402554.3_Missense_Mutation_p.S208C	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	208	Interaction with CENPF.|Interaction with KATNA1. {ECO:0000250}.|Interaction with NEFL. {ECO:0000250}.|Interaction with YWHAE. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						AAGATGGACTCCGCCGTCCAA	0.453																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(622-624)tCc>tGc		nudE neurodevelopment protein 1-like 1							77.0	67.0	70.0					17																	8354194		2203	4300	6503	SO:0001583	missense	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8354194C>G	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.623C>G	17.37:g.8354194C>G	ENSP00000333982:p.Ser208Cys					NDEL1_ENST00000402554.3_Missense_Mutation_p.S208C|NDEL1_ENST00000380025.4_Missense_Mutation_p.S208C|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.S208C	p.S208C	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			6	820	+			208			Interaction with CENPF.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	c.623C>G	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454534	0.84209	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	4.98	4.98	0.66077	NUDE protein, C-terminal (1);	0.051939	0.85682	D	0.000000	T	0.76765	0.4033	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.973	P;P	0.61275	0.886;0.886	T	0.77789	-0.2456	9	0.52906	T	0.07	-4.0223	18.8054	0.92035	0.0:1.0:0.0:0.0	.	208;208	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	C	208;208;263;208	.	ENSP00000299734:S208C	S	+	2	0	NDEL1	8294919	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.138000	0.77305	2.744000	0.94065	0.655000	0.94253	TCC		0.453	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		10	32	0	0	0	1	0	10	32				
TRIB1	10221	broad.mit.edu	37	8	126445713	126445713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:126445713G>A	ENST00000520847.1	+	2	271	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000311922.3_Missense_Mutation_p.R172Q|TRIB1_ENST00000519576.1_5'Flank					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCCTATGTGCGAAGCCGGAAG	0.577																																						ENST00000311922.3																			0				NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(514-516)cGa>cAa		tribbles pseudokinase 1							110.0	112.0	111.0					8																	126445713		2203	4300	6503	SO:0001583	missense	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126445713G>A	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000520847.1:c.17G>A	8.37:g.126445713G>A	ENSP00000429063:p.Arg6Gln					TRIB1_ENST00000520847.1_Missense_Mutation_p.R6Q|TRIB1_ENST00000521778.1_3'UTR	p.R172Q	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		2	1097	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		172			Protein kinase.			Missense_Mutation	SNP	ENST00000520847.1	37	c.515G>A		.	.	.	.	.	.	.	.	.	.	G	27.8	4.864995	0.91511	.	.	ENSG00000173334	ENST00000311922;ENST00000520847	T;T	0.64618	-0.11;-0.11	4.91	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.28688	U	0.014469	T	0.73737	0.3625	L	0.43757	1.38	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.75950	-0.3137	10	0.62326	D	0.03	-6.1311	18.4698	0.90769	0.0:0.0:1.0:0.0	.	172	Q96RU8	TRIB1_HUMAN	Q	172;6	ENSP00000312150:R172Q;ENSP00000429063:R6Q	ENSP00000312150:R172Q	R	+	2	0	TRIB1	126514895	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	4.232000	0.58645	2.449000	0.82847	0.511000	0.50034	CGA		0.577	TRIB1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381431.1	NM_025195		5	191	0	0	0	1	0	5	191				
CMYA5	202333	broad.mit.edu	37	5	79026961	79026961	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:79026961C>G	ENST00000446378.2	+	2	2404	c.2373C>G	c.(2371-2373)ttC>ttG	p.F791L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	791					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTGAACGTTTCACACCGGATT	0.453																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2371-2373)ttC>ttG		cardiomyopathy associated 5							80.0	77.0	78.0					5																	79026961		1984	4185	6169	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026961C>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2373C>G	5.37:g.79026961C>G	ENSP00000394770:p.Phe791Leu						p.F791L	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2404	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	791					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2373C>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866950	0.32977	.	.	ENSG00000164309	ENST00000446378	T	0.42900	0.96	5.41	1.52	0.23074	.	0.888230	0.09598	N	0.780518	T	0.29355	0.0731	L	0.45581	1.43	0.09310	N	1	B	0.18013	0.025	B	0.15052	0.012	T	0.28522	-1.0041	10	0.20046	T	0.44	.	1.8524	0.03172	0.1682:0.493:0.1627:0.1761	.	791	Q8N3K9	CMYA5_HUMAN	L	791	ENSP00000394770:F791L	ENSP00000394770:F791L	F	+	3	2	CMYA5	79062717	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.206000	0.09398	0.331000	0.23511	0.650000	0.86243	TTC		0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		24	85	0	0	0	1	0	24	85				
SPAG5	10615	broad.mit.edu	37	17	26912913	26912913	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:26912913C>T	ENST00000321765.5	-	7	2041	c.1709G>A	c.(1708-1710)aGa>aAa	p.R570K		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	570	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CATTTCCTCTCTGTGCCTTGC	0.502																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1708-1710)aGa>aAa		sperm associated antigen 5							229.0	199.0	209.0					17																	26912913		2203	4300	6503	SO:0001583	missense	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26912913C>T	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1709G>A	17.37:g.26912913C>T	ENSP00000323300:p.Arg570Lys						p.R570K	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			7	2041	-	Lung NSC(42;0.00431)		570					O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	c.1709G>A	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067417	0.36470	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	5.93	3.87	0.44632	.	0.502250	0.19924	N	0.103024	T	0.22975	0.0555	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.19063	-1.0317	9	0.19590	T	0.45	0.0272	7.8419	0.29403	0.0:0.7964:0.0:0.2036	.	570	Q96R06	SPAG5_HUMAN	K	570;67	.	ENSP00000323300:R570K	R	-	2	0	SPAG5	23937040	0.943000	0.32029	0.454000	0.27019	0.997000	0.91878	1.765000	0.38481	0.763000	0.33175	0.655000	0.94253	AGA		0.502	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		50	215	0	0	0	1	0	50	215				
CADPS	8618	broad.mit.edu	37	3	62860622	62860622	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:62860622G>A	ENST00000383710.4	-	1	432	c.83C>T	c.(82-84)cCg>cTg	p.P28L	CADPS_ENST00000490353.2_Missense_Mutation_p.P28L|CADPS_ENST00000357948.3_Missense_Mutation_p.P28L|CADPS_ENST00000283269.9_Missense_Mutation_p.P28L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	28					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGCGCCGGACGGGGCCGAGCC	0.746																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(82-84)cCg>cTg		Ca++-dependent secretion activator							4.0	5.0	5.0					3																	62860622		1649	3776	5425	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62860622G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.83C>T	3.37:g.62860622G>A	ENSP00000373215:p.Pro28Leu					CADPS_ENST00000357948.3_Missense_Mutation_p.P28L|CADPS_ENST00000283269.9_Missense_Mutation_p.P28L|CADPS_ENST00000490353.2_Missense_Mutation_p.P28L	p.P28L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	1	432	-		Lung SC(41;0.0452)	28					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.83C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848368	0.32699	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.51	3.68	0.42216	.	0.544492	0.16420	N	0.215181	T	0.75606	0.3872	N	0.08118	0	0.38322	D	0.943562	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.09377	0.004;0.004;0.002	T	0.66472	-0.5915	10	0.25751	T	0.34	.	8.8316	0.35087	0.0796:0.1496:0.7707:0.0	.	28;28;28	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	L	28	ENSP00000373215:P28L;ENSP00000350632:P28L;ENSP00000283269:P28L;ENSP00000418736:P28L	ENSP00000283269:P28L	P	-	2	0	CADPS	62835662	0.998000	0.40836	1.000000	0.80357	0.788000	0.44548	1.692000	0.37731	0.685000	0.31468	-0.145000	0.13849	CCG		0.746	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		3	13	0	0	0	1	0	3	13				
ZSCAN5B	342933	broad.mit.edu	37	19	56704176	56704176	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:56704176C>T	ENST00000586855.2	-	2	559	c.246G>A	c.(244-246)caG>caA	p.Q82Q	ZSCAN5B_ENST00000358992.3_Silent_p.Q82Q			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTCCAGGATCTGCTCTTTGG	0.577																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(244-246)caG>caA		zinc finger and SCAN domain containing 5B							25.0	25.0	25.0					19																	56704176		2195	4273	6468	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704176C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.246G>A	19.37:g.56704176C>T						ZSCAN5B_ENST00000358992.3_Silent_p.Q82Q	p.Q82Q			A6NJL1	ZSA5B_HUMAN			2	559	-			82			SCAN box.			Silent	SNP	ENST00000586855.2	37	c.246G>A	CCDS46203.1																																																																																				0.577	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		7	26	0	0	0	1	0	7	26				
GPR55	9290	broad.mit.edu	37	2	231774925	231774925	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:231774925C>T	ENST00000392040.1	-	2	945	c.753G>A	c.(751-753)ctG>ctA	p.L251L	GPR55_ENST00000392039.2_Silent_p.L251L|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	251					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		TGTTTCTCACCAGGAACTGCA	0.542																																						ENST00000392040.1																			0				endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(751-753)ctG>ctA		G protein-coupled receptor 55							111.0	107.0	108.0					2																	231774925		2203	4300	6503	SO:0001819	synonymous_variant	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231774925C>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.753G>A	2.37:g.231774925C>T						GPR55_ENST00000392039.2_Silent_p.L251L	p.L251L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	945	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	251					Q8N580	Silent	SNP	ENST00000392040.1	37	c.753G>A	CCDS2480.1																																																																																				0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		20	97	0	0	0	1	0	20	97				
TLE1	7088	broad.mit.edu	37	9	84226773	84226773	+	Missense_Mutation	SNP	C	C	T	rs556195256		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:84226773C>T	ENST00000376499.3	-	13	2229	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	TLE1_ENST00000376484.1_Missense_Mutation_p.A64T|TLE1_ENST00000376472.1_Missense_Mutation_p.A64T|TLE1_ENST00000464999.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	389	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCGTAGGCAGCGCCTGGGCTG	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15025	0.0		0.0	False		,,,				2504	0.0				NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1165-1167)Gct>Act		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							44.0	48.0	46.0					9																	84226773		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84226773C>T		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1165G>A	9.37:g.84226773C>T	ENSP00000365682:p.Ala389Thr					TLE1_ENST00000376484.1_Missense_Mutation_p.A64T|TLE1_ENST00000376472.1_Missense_Mutation_p.A64T|TLE1_ENST00000464999.1_5'UTR	p.A389T	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			13	2229	-			389			Pro/Ser-rich.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1165G>A	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234406	0.95207	.	.	ENSG00000196781	ENST00000376499;ENST00000376484;ENST00000376472	T;T;T	0.54479	0.87;0.57;0.57	5.84	5.84	0.93424	.	0.051257	0.85682	D	0.000000	T	0.62600	0.2441	L	0.53249	1.67	0.80722	D	1	D;P;P;P	0.58970	0.984;0.835;0.948;0.915	P;B;P;P	0.51355	0.461;0.18;0.667;0.448	T	0.64300	-0.6440	10	0.72032	D	0.01	-19.2104	20.1511	0.98086	0.0:1.0:0.0:0.0	.	315;374;415;389	B4E345;B4DEF9;Q59EF7;Q04724	.;.;.;TLE1_HUMAN	T	389;64;64	ENSP00000365682:A389T;ENSP00000365667:A64T;ENSP00000365655:A64T	ENSP00000365655:A64T	A	-	1	0	TLE1	83416593	0.999000	0.42202	0.559000	0.28332	0.398000	0.30690	4.269000	0.58890	2.778000	0.95560	0.655000	0.94253	GCT		0.687	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		15	64	0	0	0	1	0	15	64				
IPO5	3843	broad.mit.edu	37	13	98655279	98655279	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:98655279G>A	ENST00000490680.1	+	13	1550	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	IPO5_ENST00000261574.5_Silent_p.L513L|IPO5_ENST00000539640.1_Silent_p.L370L|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5	495					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTATGGTACTGAAGCTTCAAG	0.398																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1537-1539)ctG>ctA		importin 5							148.0	149.0	149.0					13																	98655279		2203	4300	6503	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98655279G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1485G>A	13.37:g.98655279G>A						IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Silent_p.L370L|IPO5_ENST00000490680.1_Silent_p.L495L	p.L513L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			16	1719	+			495					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.1539G>A																																																																																					0.398	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		21	180	0	0	0	1	0	21	180				
PCSK6	5046	broad.mit.edu	37	15	101872144	101872144	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:101872144C>G	ENST00000348070.1	-	15	1947	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q	RP11-299G20.3_ENST00000558696.1_RNA|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.E650Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	651					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGAGAGCTCCAGCATCCGC	0.572																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1948-1950)Gag>Cag		proprotein convertase subtilisin/kexin type 6							54.0	57.0	56.0					15																	101872144		2019	4179	6198	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101872144C>G		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1948G>C	15.37:g.101872144C>G	ENSP00000305056:p.Glu650Gln					PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.E650Q	p.E650Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		15	1947	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		651					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1948G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.053092	0.75960	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.65178	-0.14;-0.13	5.82	5.82	0.92795	.	0.259887	0.39759	N	0.001270	T	0.70605	0.3243	L	0.36672	1.1	0.80722	D	1	P;P;D;P;B	0.71674	0.911;0.791;0.998;0.93;0.193	P;B;D;P;B	0.80764	0.5;0.272;0.994;0.649;0.065	T	0.64045	-0.6499	10	0.21540	T	0.41	-45.8483	17.5867	0.87983	0.0:1.0:0.0:0.0	.	651;482;651;651;650	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	Q	650;650;481	ENSP00000305056:E650Q;ENSP00000351193:E650Q	ENSP00000305056:E650Q	E	-	1	0	PCSK6	99689667	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.139000	0.58024	2.744000	0.94065	0.650000	0.86243	GAG		0.572	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		6	31	0	0	0	1	0	6	31				
REEP6	92840	broad.mit.edu	37	19	1489887	1489887	+	5'Flank	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:1489887C>T	ENST00000233596.3	+	0	0				PCSK4_ENST00000587784.1_Intron|PCSK4_ENST00000300954.5_Missense_Mutation_p.D67N	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6						regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTGCCCGTCAGGGAAGATC	0.667																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(199-201)Gac>Aac		proprotein convertase subtilisin/kexin type 4							14.0	16.0	15.0					19																	1489887		2199	4295	6494	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1489887C>T	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072		19.37:g.1489887C>T	Exception_encountered					PCSK4_ENST00000587784.1_Intron	p.D67N	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	260	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	67					B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	ENST00000233596.3	37	c.199G>A	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	C	8.777	0.927274	0.18056	.	.	ENSG00000115257	ENST00000300954	T	0.29142	1.58	3.13	3.13	0.36017	Proteinase inhibitor, propeptide (1);	0.132031	0.32204	N	0.006424	T	0.19167	0.0460	L	0.39633	1.23	0.28741	N	0.901967	P	0.48764	0.915	B	0.40165	0.321	T	0.13683	-1.0500	10	0.02654	T	1	.	11.0809	0.48059	0.0:1.0:0.0:0.0	.	67	Q6UW60	PCSK4_HUMAN	N	67	ENSP00000300954:D67N	ENSP00000300954:D67N	D	-	1	0	PCSK4	1440887	.	.	0.923000	0.36655	0.800000	0.45204	.	.	1.606000	0.50161	0.561000	0.74099	GAC		0.667	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		3	12	0	0	0	1	0	3	12				
NIPBL	25836	broad.mit.edu	37	5	37051956	37051956	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:37051956G>A	ENST00000282516.8	+	41	7529	c.7030G>A	c.(7030-7032)Gaa>Aaa	p.E2344K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2344K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2344					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCAACTTGTGGAAATAGACAA	0.313																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7030-7032)Gaa>Aaa		Nipped-B homolog (Drosophila)							84.0	88.0	86.0					5																	37051956		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37051956G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7030G>A	5.37:g.37051956G>A	ENSP00000282516:p.Glu2344Lys					NIPBL_ENST00000448238.2_Missense_Mutation_p.E2344K	p.E2344K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		41	7529	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2344					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7030G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263801	0.95399	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95949	-3.86;-3.86	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	M	0.74647	2.275	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.79784	0.993;0.986;0.987	D	0.96136	0.9096	10	0.27082	T	0.32	-17.4588	19.8167	0.96571	0.0:0.0:1.0:0.0	.	2344;2344;2344	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	K	2344	ENSP00000282516:E2344K;ENSP00000406266:E2344K	ENSP00000282516:E2344K	E	+	1	0	NIPBL	37087713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.685000	0.91497	0.557000	0.71058	GAA		0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		10	45	0	0	0	1	0	10	45				
DEFB136	613210	broad.mit.edu	37	8	11832092	11832092	+	Missense_Mutation	SNP	G	G	C	rs369002204		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:11832092G>C	ENST00000382209.2	-	1	16	c.17C>G	c.(16-18)tCt>tGt	p.S6C		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	6					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GAGTAATGCAGAAAGACAGAG	0.507																																						ENST00000382209.2																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(16-18)tCt>tGt		defensin, beta 136							124.0	127.0	126.0					8																	11832092		1962	4159	6121	SO:0001583	missense	613210				defense response to bacterium	extracellular region		g.chr8:11832092G>C	DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"""Defensins, beta"""	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.17C>G	8.37:g.11832092G>C	ENSP00000371644:p.Ser6Cys						p.S6C	NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)	1	16	-			6					Q4QY36	Missense_Mutation	SNP	ENST00000382209.2	37	c.17C>G	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	G	9.629	1.136020	0.21123	.	.	ENSG00000205884	ENST00000382209	.	.	.	3.97	2.11	0.27256	.	0.633204	0.14157	N	0.337659	T	0.54159	0.1841	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.39121	-0.9629	8	0.87932	D	0	0.0086	5.4269	0.16431	0.112:0.205:0.683:0.0	.	6	Q30KP8	DB136_HUMAN	C	6	.	ENSP00000371644:S6C	S	-	2	0	DEFB136	11869501	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.977000	0.29475	0.602000	0.29896	0.555000	0.69702	TCT		0.507	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	NM_001033018		31	134	0	0	0	1	0	31	134				
RNF216	54476	broad.mit.edu	37	7	5781327	5781327	+	Intron	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:5781327C>G	ENST00000425013.2	-	4	426				RNF216_ENST00000389902.3_Missense_Mutation_p.K107N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216						apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AATAGCTGCTCTTATCTGATT	0.458																																						ENST00000389902.3																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(319-321)aaG>aaC		ring finger protein 216							156.0	144.0	148.0					7																	5781327		2203	4300	6503	SO:0001627	intron_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5781327C>G	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.202-52G>C	7.37:g.5781327C>G						RNF216_ENST00000425013.2_Intron	p.K107N			Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	588	-		Ovarian(82;0.07)	65					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.321G>C	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386810	0.25031	.	.	ENSG00000011275	ENST00000389902	T	0.52057	0.68	5.66	1.8	0.24995	.	0.868859	0.10147	N	0.710135	T	0.23649	0.0572	N	0.08118	0	0.09310	N	1	B	0.26258	0.145	B	0.24541	0.054	T	0.23440	-1.0188	9	.	.	.	-1.6813	5.631	0.17510	0.0:0.6115:0.149:0.2395	.	107	Q9NWF9-1	.	N	107	ENSP00000374552:K107N	.	K	-	3	2	RNF216	5747853	0.000000	0.05858	0.132000	0.22025	0.991000	0.79684	0.219000	0.17641	0.412000	0.25729	-0.137000	0.14449	AAG		0.458	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		36	145	0	0	0	1	0	36	145				
HIST2H2AB	317772	broad.mit.edu	37	1	149859298	149859298	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:149859298C>G	ENST00000331128.3	-	1	168	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCAGGTACTCGAGGACCGCC	0.662																																						ENST00000331128.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(169-171)Gag>Cag		histone cluster 2, H2ab							44.0	49.0	47.0					1																	149859298		2203	4300	6503	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859298C>G	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.169G>C	1.37:g.149859298C>G	ENSP00000332790:p.Glu57Gln						p.E57Q	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	168	-	Breast(34;0.0124)|all_hematologic(923;0.127)		57						Missense_Mutation	SNP	ENST00000331128.3	37	c.169G>C	CCDS938.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190577	0.58017	.	.	ENSG00000184270	ENST00000331128	T	0.61859	0.07	5.27	5.27	0.74061	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.92169	3.28	0.51482	D	0.999923	D	0.89917	1.0	D	0.97110	1.0	T	0.83235	-0.0061	10	0.87932	D	0	.	14.7467	0.69494	0.0:1.0:0.0:0.0	.	57	Q8IUE6	H2A2B_HUMAN	Q	57	ENSP00000332790:E57Q	ENSP00000332790:E57Q	E	-	1	0	HIST2H2AB	148125922	1.000000	0.71417	0.999000	0.59377	0.676000	0.39594	4.977000	0.63792	2.621000	0.88768	0.655000	0.94253	GAG		0.662	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		32	109	0	0	0	1	0	32	109				
PSG4	5672	broad.mit.edu	37	19	43702371	43702371	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:43702371C>T	ENST00000405312.3	-	3	724	c.487G>A	c.(487-489)Gag>Aag	p.E163K	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.E163K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	163	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)				ATCACAGCCTCCATGGCCTCC	0.547																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(487-489)Gag>Aag		pregnancy specific beta-1-glycoprotein 4							146.0	164.0	158.0					19																	43702371		2127	4272	6399	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43702371C>T		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.487G>A	19.37:g.43702371C>T	ENSP00000384770:p.Glu163Lys					PSG4_ENST00000244295.9_Missense_Mutation_p.E163K|PSG4_ENST00000433626.2_Intron	p.E163K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			3	724	-		Prostate(69;0.00682)	163			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.487G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	14.99	2.699581	0.48307	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.13196	2.61;2.61;2.61	1.94	1.94	0.25998	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31071	0.0785	M	0.77103	2.36	0.22317	N	0.999202	D;P;P	0.53619	0.961;0.951;0.806	P;P;P	0.61477	0.889;0.823;0.555	T	0.04140	-1.0974	9	0.87932	D	0	.	7.2649	0.26224	0.0:1.0:0.0:0.0	.	179;163;163	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	K	163;163;179	ENSP00000244295:E163K;ENSP00000384770:E163K;ENSP00000388134:E179K	ENSP00000244295:E163K	E	-	1	0	PSG4	48394211	0.013000	0.17824	0.004000	0.12327	0.004000	0.04260	2.093000	0.41710	1.078000	0.41014	0.185000	0.17295	GAG		0.547	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		67	263	0	0	0	1	0	67	263				
MON1A	84315	broad.mit.edu	37	3	49948975	49948975	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:49948975G>A	ENST00000417270.1	-	4	1314	c.621C>T	c.(619-621)atC>atT	p.I207I	MON1A_ENST00000455683.2_Intron|MON1A_ENST00000296473.3_Silent_p.I296I|MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGATGGAGCGGATGGCGTTCT	0.597																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(619-621)atC>atT		MON1 secretory trafficking family member A							82.0	70.0	74.0					3																	49948975		2203	4300	6503	SO:0001819	synonymous_variant	84315						protein binding	g.chr3:49948975G>A	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.621C>T	3.37:g.49948975G>A						CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.I296I|MON1A_ENST00000455683.2_Intron	p.I207I			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1314	-			199					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP	ENST00000417270.1	37	c.621C>T																																																																																					0.597	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		18	68	0	0	0	1	0	18	68				
MON1A	84315	broad.mit.edu	37	3	49949205	49949205	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:49949205G>C	ENST00000417270.1	-	4	1084	c.391C>G	c.(391-393)Ccc>Gcc	p.P131A	MON1A_ENST00000455683.2_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.P220A|MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	123										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCCCTGGGGGTTCCAGCCAA	0.657																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(391-393)Ccc>Gcc		MON1 secretory trafficking family member A							38.0	41.0	40.0					3																	49949205		2202	4298	6500	SO:0001583	missense	84315						protein binding	g.chr3:49949205G>C	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.391C>G	3.37:g.49949205G>C	ENSP00000399613:p.Pro131Ala					CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.P220A|MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000455683.2_Intron	p.P131A			Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1084	-			123					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.391C>G		.	.	.	.	.	.	.	.	.	.	G	6.109	0.388290	0.11581	.	.	ENSG00000164077	ENST00000296473;ENST00000417270	.	.	.	5.39	-2.89	0.05665	.	0.666334	0.15726	N	0.247649	T	0.32133	0.0819	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	8	.	.	.	-10.0079	8.407	0.32621	0.4721:0.1015:0.4264:0.0	.	123	Q86VX9	MON1A_HUMAN	A	220;131	.	.	P	-	1	0	MON1A	49924209	0.742000	0.28228	0.010000	0.14722	0.444000	0.32077	1.025000	0.30090	-0.504000	0.06577	-2.503000	0.00190	CCC		0.657	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		16	72	0	0	0	1	0	16	72				
BAG2	9532	broad.mit.edu	37	6	57048881	57048881	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:57048881C>G	ENST00000370693.5	+	3	901	c.529C>G	c.(529-531)Ctg>Gtg	p.L177V	BAG2_ENST00000545080.1_Missense_Mutation_p.L144V	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	177	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				protein folding (GO:0006457)|protein metabolic process (GO:0019538)		identical protein binding (GO:0042802)			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTAGAGACTCTGCTTAGAAA	0.393																																						ENST00000370693.5																			0				endometrium(1)|large_intestine(1)	2						c.(529-531)Ctg>Gtg		BCL2-associated athanogene 2							56.0	57.0	57.0					6																	57048881		2202	4299	6501	SO:0001583	missense	9532				apoptosis|protein folding		protein binding	g.chr6:57048881C>G	AF095192	CCDS4961.1	6p12.3-p11.2	2008-02-05			ENSG00000112208	ENSG00000112208			938	protein-coding gene	gene with protein product		603882				9873016	Standard	NM_004282		Approved		uc003pdr.3	O95816	OTTHUMG00000014919	ENST00000370693.5:c.529C>G	6.37:g.57048881C>G	ENSP00000359727:p.Leu177Val					BAG2_ENST00000545080.1_Missense_Mutation_p.L144V	p.L177V	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		3	901	+	Lung NSC(77;0.126)		177			BAG.		B4DXE2|Q08AS9|Q6FID0	Missense_Mutation	SNP	ENST00000370693.5	37	c.529C>G	CCDS4961.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734138	0.69189	.	.	ENSG00000112208	ENST00000370693;ENST00000545080	D;D	0.91068	-2.78;-2.78	6.06	2.92	0.33932	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.93759	0.8005	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.87578	0.998;0.883	D	0.94165	0.7418	10	0.72032	D	0.01	-17.3503	12.5545	0.56246	0.0:0.7904:0.0:0.2096	.	144;177	B4DXE2;O95816	.;BAG2_HUMAN	V	177;144	ENSP00000359727:L177V;ENSP00000441795:L144V	ENSP00000359727:L177V	L	+	1	2	BAG2	57156840	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.347000	0.52200	0.897000	0.36392	0.650000	0.86243	CTG		0.393	BAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041044.2			14	50	0	0	0	1	0	14	50				
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	C	T	rs397516896		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:140453155C>T	ENST00000288602.6	-	15	1840	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in NHL). {ECO:0000269|PubMed:14612909}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D594N(9)|p.D594H(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AGACCAAAATCACCTATTTTT	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	11	Substitution - Missense(11)	p.D594N(9)|p.D594H(2)	skin(6)|large_intestine(2)|lung(2)|haematopoietic_and_lymphoid_tissue(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1780-1782)Gat>Aat		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						106.0	100.0	102.0					7																	140453155		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453155C>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1780G>A	7.37:g.140453155C>T	ENSP00000288602:p.Asp594Asn						p.D594N	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1840	-	Melanoma(164;0.00956)		594		D -> G (in NHL).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1780G>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616687	0.96649	.	.	ENSG00000157764	ENST00000288602	D	0.99849	-7.15	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96728	0.9537	10	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	594	P15056	BRAF_HUMAN	N	594	ENSP00000288602:D594N	ENSP00000288602:D594N	D	-	1	0	BRAF	140099624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.702000	0.84576	2.686000	0.91538	0.650000	0.86243	GAT		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	57	0	0	0	1	0	14	57				
DNAH3	55567	broad.mit.edu	37	16	20975195	20975195	+	Silent	SNP	C	C	T	rs367808003		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:20975195C>T	ENST00000261383.3	-	53	10010	c.10011G>A	c.(10009-10011)acG>acA	p.T3337T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3337					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTCGCTCTTCGTGCTGTGGG	0.478																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(10009-10011)acG>acA		dynein, axonemal, heavy chain 3		C		0,4402		0,0,2201	159.0	124.0	135.0		10011	-6.2	0.0	16		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH3	NM_017539.1		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		3337/4117	20975195	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975195C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10011G>A	16.37:g.20975195C>T						DNAH3_ENST00000415178.1_3'UTR	p.T3337T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10010	-			3337					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.10011G>A	CCDS10594.1																																																																																				0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		37	104	0	0	0	1	0	37	104				
ADAMTS10	81794	broad.mit.edu	37	19	8657722	8657722	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:8657722C>G	ENST00000597188.1	-	13	1782	c.1512G>C	c.(1510-1512)aaG>aaC	p.K504N	ADAMTS10_ENST00000595838.1_5'Flank|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.K504N	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	504	Disintegrin.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACCGGTTGCTCTTGCTCAGAC	0.716																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1510-1512)aaG>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 10							43.0	36.0	38.0					19																	8657722		2203	4298	6501	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8657722C>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1512G>C	19.37:g.8657722C>G	ENSP00000471851:p.Lys504Asn					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.K504N	p.K504N			Q9H324	ATS10_HUMAN			12	1778	-			504			Disintegrin.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1512G>C	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787063	0.49997	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.67171	-0.25	5.27	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	L	0.33245	0.995	0.58432	D	0.999994	B;B	0.19445	0.036;0.012	B;B	0.20577	0.028;0.03	T	0.43686	-0.9376	10	0.25106	T	0.35	.	6.7681	0.23579	0.0:0.7574:0.0:0.2426	.	258;504	Q59FE5;Q9H324	.;ATS10_HUMAN	N	504;258	ENSP00000270328:K504N	ENSP00000270328:K504N	K	-	3	2	ADAMTS10	8563722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.478000	0.35442	2.449000	0.82847	0.655000	0.94253	AAG		0.716	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		3	29	0	0	0	1	0	3	29				
TNXB	7148	broad.mit.edu	37	6	32023946	32023946	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:32023946C>T	ENST00000375244.3	-	24	8350	c.8149G>A	c.(8149-8151)Gag>Aag	p.E2717K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2717K			P22105	TENX_HUMAN	tenascin XB	2775	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCTCTTCCTCTGCAGCTGAG	0.612																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8149-8151)Gag>Aag		tenascin XB							30.0	36.0	34.0					6																	32023946		1228	2535	3763	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32023946C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8149G>A	6.37:g.32023946C>T	ENSP00000364393:p.Glu2717Lys					TNXB_ENST00000375247.2_Missense_Mutation_p.E2717K	p.E2717K			P22105	TENX_HUMAN			24	8350	-			2775			Fibronectin type-III 19.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8149G>A		.	.	.	.	.	.	.	.	.	.	C	11.70	1.716282	0.30413	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55760	0.67;0.5	4.74	3.85	0.44370	.	1.533400	0.04224	N	0.334082	T	0.35008	0.0917	M	0.67625	2.065	0.23827	N	0.996738	P	0.35575	0.51	B	0.39840	0.311	T	0.39231	-0.9624	10	0.15952	T	0.53	.	9.5896	0.39537	0.16:0.6852:0.1548:0.0	.	2717	P22105-3	.	K	2717	ENSP00000364393:E2717K;ENSP00000364396:E2717K	ENSP00000364393:E2717K	E	-	1	0	TNXB	32131924	0.060000	0.20803	0.966000	0.40874	0.717000	0.41224	0.917000	0.28665	0.951000	0.37770	0.456000	0.33151	GAG		0.612	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	45	0	0	0	1	0	10	45				
C3AR1	719	broad.mit.edu	37	12	8212398	8212398	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:8212398G>A	ENST00000307637.4	-	2	587	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	128					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TCTGACACCAGATTGGCTTGA	0.502																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(382-384)atC>atT		complement component 3a receptor 1							217.0	174.0	188.0					12																	8212398		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212398G>A	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.384C>T	12.37:g.8212398G>A							p.I128I	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	587	-			128					O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.384C>T	CCDS8588.1																																																																																				0.502	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			16	82	0	0	0	1	0	16	82				
FREM2	341640	broad.mit.edu	37	13	39261962	39261962	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:39261962G>A	ENST00000280481.7	+	1	697	c.481G>A	c.(481-483)Gga>Aga	p.G161R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	161					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGACGCGCCCGGAGGGGCAGT	0.667																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(481-483)Gga>Aga		FRAS1 related extracellular matrix protein 2							46.0	47.0	46.0					13																	39261962		2196	4297	6493	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39261962G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.481G>A	13.37:g.39261962G>A	ENSP00000280481:p.Gly161Arg						p.G161R	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	697	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	161					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.481G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317221	0.23908	.	.	ENSG00000150893	ENST00000280481	T	0.18174	2.23	5.46	4.42	0.53409	.	0.280236	0.32081	N	0.006610	T	0.12902	0.0313	L	0.44542	1.39	0.09310	N	1	P	0.36315	0.547	B	0.29077	0.098	T	0.21827	-1.0234	10	0.59425	D	0.04	.	9.3769	0.38288	0.2068:0.0:0.7932:0.0	.	161	Q5SZK8	FREM2_HUMAN	R	161	ENSP00000280481:G161R	ENSP00000280481:G161R	G	+	1	0	FREM2	38159962	0.910000	0.30920	0.340000	0.25575	0.059000	0.15707	2.553000	0.45837	2.551000	0.86045	0.655000	0.94253	GGA		0.667	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	15	0	0	0	1	0	5	15				
GAS8	2622	broad.mit.edu	37	16	90095621	90095621	+	Intron	SNP	C	C	T	rs554912454		TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:90095621C>T	ENST00000268699.4	+	2	212				GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.V44I|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctacggggcaggcC	0.672																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(130-132)Gta>Ata		chromosome 16 open reading frame 3							25.0	29.0	28.0					16																	90095621		2198	4298	6496	SO:0001627	intron_variant	750							g.chr16:90095621C>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1491C>T	16.37:g.90095621C>T						GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron	p.V44I	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	688	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	44					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.130G>A	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	1.843	-0.466866	0.04476	.	.	ENSG00000221819	ENST00000408886	T	0.50277	0.75	.	.	.	.	.	.	.	.	T	0.22322	0.0538	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.21965	-1.0230	4	.	.	.	.	.	.	.	.	.	.	.	I	44	ENSP00000386218:V44I	.	V	-	1	0	C16orf3	88623122	.	.	0.004000	0.12327	0.041000	0.13682	.	.	0.073000	0.16731	0.074000	0.15403	GTA		0.672	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			16	44	0	0	0	1	0	16	44				
OOEP	441161	broad.mit.edu	37	6	74078584	74078584	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:74078584C>T	ENST00000370359.5	-	3	372	c.373G>A	c.(373-375)Gag>Aag	p.E125K	OOEP_ENST00000370363.1_Missense_Mutation_p.E70K|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	125					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TTCATCTTCTCAGCTGGAAGA	0.483																																						ENST00000370363.1																			0				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(208-210)Gag>Aag		oocyte expressed protein							77.0	81.0	80.0					6																	74078584		1938	4141	6079	SO:0001583	missense	441161					cytoplasm		g.chr6:74078584C>T	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.373G>A	6.37:g.74078584C>T	ENSP00000359384:p.Glu125Lys					OOEP_ENST00000370359.5_Missense_Mutation_p.E125K	p.E70K			A6NGQ2	OOEP_HUMAN			4	700	-			125			KH; atypical.		A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	37	c.208G>A	CCDS47451.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577286	0.28092	.	.	ENSG00000203907	ENST00000370363;ENST00000370359	T;T	0.12361	2.69;2.69	3.51	0.726	0.18248	.	0.860838	0.09870	N	0.745054	T	0.04407	0.0121	L	0.57536	1.79	0.29761	N	0.835558	B;B	0.31705	0.336;0.336	B;B	0.27796	0.083;0.083	T	0.35847	-0.9772	10	0.40728	T	0.16	-19.0257	5.6178	0.17440	0.0:0.6332:0.0:0.3668	.	70;125	F2Z364;A6NGQ2	.;OOEP_HUMAN	K	70;125	ENSP00000359388:E70K;ENSP00000359384:E125K	ENSP00000359384:E125K	E	-	1	0	OOEP	74135305	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	0.373000	0.20484	0.137000	0.18759	0.655000	0.94253	GAG		0.483	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		7	31	0	0	0	1	0	7	31				
PDIA3	2923	broad.mit.edu	37	15	44037259	44037259	+	5'Flank	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr15:44037259C>G	ENST00000300289.5	+	0	0				PDIA3_ENST00000538521.1_5'Flank|CATSPER2P1_ENST00000381680.2_RNA	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CAGCTTGGCTCAAGCCTTGCA	0.463																																						ENST00000381680.2																			0																																																	SO:0001631	upstream_gene_variant	440278							g.chr15:44037259C>G		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444		15.37:g.44037259C>G	Exception_encountered							NR_002318.2						0	364	-								Q13453|Q14255|Q8IYF8|Q9UMU7	RNA	SNP	ENST00000300289.5	37		CCDS10101.1																																																																																				0.463	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		27	105	0	0	0	1	0	27	105				
HLA-B	3106	broad.mit.edu	37	6	31323370	31323370	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:31323370C>T	ENST00000412585.2	-	4	648		c.e4-1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TTTGGGGGGTCTGATGGGAAG	0.577									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.e4-1		major histocompatibility complex, class I, B							80.0	83.0	82.0					6																	31323370		2203	4300	6503	SO:0001630	splice_region_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323370C>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.620-1G>A	6.37:g.31323370C>T								NM_005514.6	NP_005505.2					4	648	-								Q29764	Splice_Site	SNP	ENST00000412585.2	37		CCDS34394.1	.	.	.	.	.	.	.	.	.	.	.	10.87	1.471755	0.26423	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	.	.	.	3.2	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0816	0.42393	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-B	31431349	0.995000	0.38212	0.590000	0.28732	0.033000	0.12548	3.168000	0.50801	1.808000	0.52836	0.448000	0.29417	.		0.577	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	Intron	34	145	0	0	0	1	0	34	145				
ZBTB26	57684	broad.mit.edu	37	9	125682207	125682207	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:125682207C>G	ENST00000373656.3	-	2	80	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	ZBTB26_ENST00000373654.1_Missense_Mutation_p.E3Q	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TCTGATCTTTCAGACATTTTG	0.303																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(7-9)Gaa>Caa		zinc finger and BTB domain containing 26							25.0	26.0	26.0					9																	125682207		2198	4290	6488	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125682207C>G	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.7G>C	9.37:g.125682207C>G	ENSP00000362760:p.Glu3Gln					ZBTB26_ENST00000373654.1_Missense_Mutation_p.E3Q	p.E3Q	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	80	-			3					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.7G>C	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	C	8.452	0.853372	0.17106	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.10005	2.92;2.92	5.12	5.12	0.69794	.	0.062950	0.64402	D	0.000006	T	0.05914	0.0154	N	0.03115	-0.41	0.47949	D	0.999556	B	0.25441	0.126	B	0.15052	0.012	T	0.45659	-0.9246	10	0.24483	T	0.36	.	18.5867	0.91192	0.0:1.0:0.0:0.0	.	3	Q9HCK0	ZBT26_HUMAN	Q	3	ENSP00000362760:E3Q;ENSP00000362758:E3Q	ENSP00000362758:E3Q	E	-	1	0	ZBTB26	124722028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.997000	0.63921	2.379000	0.81126	0.563000	0.77884	GAA		0.303	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		4	24	0	0	0	1	0	4	24				
IGSF10	285313	broad.mit.edu	37	3	151162905	151162905	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:151162905C>G	ENST00000282466.3	-	4	4863	c.4864G>C	c.(4864-4866)Gat>Cat	p.D1622H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1622					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTTTCTTATCAAAGTCACTC	0.433																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(4864-4866)Gat>Cat		immunoglobulin superfamily, member 10							246.0	216.0	226.0					3																	151162905		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151162905C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4864G>C	3.37:g.151162905C>G	ENSP00000282466:p.Asp1622His						p.D1622H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4863	-			1622					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4864G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116611	0.37339	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.70631	-0.5	5.86	4.96	0.65561	.	0.129115	0.34291	N	0.004092	T	0.62696	0.2449	N	0.08118	0	0.09310	N	0.999998	D	0.62365	0.991	P	0.52710	0.707	T	0.60934	-0.7164	10	0.49607	T	0.09	.	15.1378	0.72583	0.0:0.8593:0.1407:0.0	.	1622	Q6WRI0	IGS10_HUMAN	H	1622;249	ENSP00000282466:D1622H	ENSP00000282466:D1622H	D	-	1	0	IGSF10	152645595	0.056000	0.20664	0.011000	0.14972	0.393000	0.30537	1.591000	0.36665	1.428000	0.47296	0.650000	0.86243	GAT		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		17	107	0	0	0	1	0	17	107				
TAS1R2	80834	broad.mit.edu	37	1	19180755	19180755	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:19180755G>A	ENST00000375371.3	-	3	1230	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	403					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGTCACAGCCGAGGAGGCTGT	0.612																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1207-1209)ctC>ctT		taste receptor, type 1, member 2	Aspartame(DB00168)						70.0	64.0	66.0					1																	19180755		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19180755G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1209C>T	1.37:g.19180755G>A						RP13-279N23.2_ENST00000494072.3_3'UTR	p.L403L	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	1230	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	403					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1209C>T	CCDS187.1																																																																																				0.612	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			5	28	0	0	0	1	0	5	28				
OR9A2	135924	broad.mit.edu	37	7	142724130	142724130	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:142724130G>A	ENST00000350513.2	-	1	152	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	30						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(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGAAGAAAAAGAATATAGCAA	0.433																																						ENST00000350513.2																			0				central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(88-90)ttC>ttT		olfactory receptor, family 9, subfamily A, member 2							87.0	89.0	89.0					7																	142724130		2203	4300	6503	SO:0001819	synonymous_variant	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142724130G>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.90C>T	7.37:g.142724130G>A							p.F30F	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	152	-	Melanoma(164;0.059)		30					B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	c.90C>T	CCDS34767.1																																																																																				0.433	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			21	92	0	0	0	1	0	21	92				
PCDHA3	56145	broad.mit.edu	37	5	140182393	140182393	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:140182393G>A	ENST00000522353.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA3_ENST00000532566.2_Silent_p.A537A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGTGCGCGCGATGCGG	0.667																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1609-1611)gcG>gcA									86.0	87.0	86.0					5																	140182393		2203	4298	6501	SO:0001819	synonymous_variant	56145							g.chr5:140182393G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1611G>A	5.37:g.140182393G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A537A|PCDHA2_ENST00000520672.2_Intron	p.A537A	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1611G>A	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		58	189	0	0	0	1	0	58	189				
SF3B3	23450	broad.mit.edu	37	16	70557288	70557288	+	5'Flank	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:70557288G>C	ENST00000302516.5	+	0	0				COG4_ENST00000564653.1_Silent_p.L53L|COG4_ENST00000393612.4_Silent_p.L49L|COG4_ENST00000323786.5_Silent_p.L53L	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCTCGCCGCAGAGCCGTTCGT	0.617																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.(157-159)ctC>ctG		component of oligomeric golgi complex 4							42.0	52.0	49.0					16																	70557288		2198	4300	6498	SO:0001631	upstream_gene_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70557288G>C	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582		16.37:g.70557288G>C	Exception_encountered					COG4_ENST00000393612.4_Silent_p.L49L|COG4_ENST00000564653.1_Silent_p.L53L	p.L53L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			1	180	-		Ovarian(137;0.0694)	49			Interacts with SCFD1.		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.159C>G	CCDS10894.1																																																																																				0.617	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		18	79	0	0	0	1	0	18	79				
BSND	7809	broad.mit.edu	37	1	55472860	55472860	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:55472860C>G	ENST00000371265.4	+	3	717	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	155					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TGGCGACGTTCAGGCCTGGAT	0.622																																					Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(463-465)Cag>Gag		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							92.0	83.0	86.0					1																	55472860		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55472860C>G	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.463C>G	1.37:g.55472860C>G	ENSP00000360312:p.Gln155Glu						p.Q155E	NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN			3	717	+			155					Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.463C>G	CCDS602.1	.	.	.	.	.	.	.	.	.	.	C	9.119	1.008579	0.19199	.	.	ENSG00000162399	ENST00000371265	T	0.66460	-0.21	3.89	3.89	0.44902	.	0.108404	0.38778	N	0.001580	T	0.63931	0.2553	M	0.63428	1.95	0.31400	N	0.676784	B	0.19331	0.035	B	0.19946	0.027	T	0.70281	-0.4915	10	0.72032	D	0.01	-11.2514	13.8062	0.63233	0.0:1.0:0.0:0.0	.	155	Q8WZ55	BSND_HUMAN	E	155	ENSP00000360312:Q155E	ENSP00000360312:Q155E	Q	+	1	0	BSND	55245448	0.997000	0.39634	0.985000	0.45067	0.164000	0.22412	1.821000	0.39041	2.460000	0.83146	0.478000	0.44815	CAG		0.622	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		14	95	0	0	0	1	0	14	95				
NAA15	80155	broad.mit.edu	37	4	140272760	140272760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:140272760G>T	ENST00000296543.5	+	9	1332	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.E337*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	337					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CAAAGACAAAGAAAAGGTAAA	0.338																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1009-1011)Gaa>Taa		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							82.0	80.0	81.0					4																	140272760		1819	4076	5895	SO:0001587	stop_gained	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140272760G>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1009G>T	4.37:g.140272760G>T	ENSP00000296543:p.Glu337*					NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.E337*	p.E337*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			9	1332	+			337					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	ENST00000296543.5	37	c.1009G>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	40	8.011144	0.98607	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.93	5.93	0.95920	.	0.159247	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-19.1669	20.3396	0.98756	0.0:0.0:1.0:0.0	.	.	.	.	X	337;211;337	.	ENSP00000296543:E337X	E	+	1	0	NAA15	140492210	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.359000	0.97115	2.812000	0.96745	0.555000	0.69702	GAA		0.338	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		20	68	1	0	7.45023e-12	1	7.76065e-12	20	68				
FAM129B	64855	broad.mit.edu	37	9	130270248	130270248	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:130270248G>A	ENST00000373312.3	-	13	1765	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R505W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	518					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCCTGGAACCGGGGCAGCTCC	0.622																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1552-1554)Cgg>Tgg		family with sequence similarity 129, member B							66.0	64.0	65.0					9																	130270248		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270248G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1552C>T	9.37:g.130270248G>A	ENSP00000362409:p.Arg518Trp					FAM129B_ENST00000373314.3_Missense_Mutation_p.R505W|FAM129B_ENST00000468379.1_Intron	p.R518W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			13	1765	-			518					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1552C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088484	0.76756	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.25414	1.8;1.8	5.44	4.46	0.54185	.	0.185822	0.44285	D	0.000477	T	0.47154	0.1430	M	0.63843	1.955	0.42286	D	0.992113	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.47995	-0.9073	10	0.72032	D	0.01	-41.3493	14.487	0.67624	0.0:0.0:0.8429:0.1571	.	505;518	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	W	505;168;518	ENSP00000362411:R505W;ENSP00000362409:R518W	ENSP00000362409:R518W	R	-	1	2	FAM129B	129310069	0.997000	0.39634	1.000000	0.80357	0.966000	0.64601	2.532000	0.45659	2.550000	0.86006	0.561000	0.74099	CGG		0.622	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		4	124	0	0	0	1	0	4	124				
SHMT2	6472	broad.mit.edu	37	12	57626558	57626558	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:57626558G>A	ENST00000328923.3	+	7	1241	c.789G>A	c.(787-789)gtG>gtA	p.V263V	SHMT2_ENST00000553474.1_Silent_p.V242V|SHMT2_ENST00000449049.3_Silent_p.V242V|SHMT2_ENST00000557487.1_Silent_p.V253V|SHMT2_ENST00000393827.4_Silent_p.V167V|SHMT2_ENST00000414700.3_Silent_p.V242V	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	263					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CTGCCAAGGTGATTCCCTCGC	0.602																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(787-789)gtG>gtA		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						72.0	57.0	62.0					12																	57626558		2203	4300	6503	SO:0001819	synonymous_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626558G>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.789G>A	12.37:g.57626558G>A						SHMT2_ENST00000449049.3_Silent_p.V242V|SHMT2_ENST00000414700.3_Silent_p.V242V|SHMT2_ENST00000557487.1_Silent_p.V253V|SHMT2_ENST00000393827.4_Silent_p.V167V|SHMT2_ENST00000553474.1_Silent_p.V242V	p.V263V	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			7	1241	+			263					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	c.789G>A	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	G	0.873	-0.731368	0.03135	.	.	ENSG00000182199	ENST00000557529	.	.	.	5.1	3.16	0.36331	.	.	.	.	.	T	0.59018	0.2163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56378	-0.7989	4	.	.	.	-5.4354	9.4328	0.38620	0.0843:0.1927:0.723:0.0	.	.	.	.	N	63	.	.	D	+	1	0	SHMT2	55912825	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	0.683000	0.25349	1.531000	0.49152	-0.140000	0.14226	GAT		0.602	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		17	54	0	0	0	1	0	17	54				
USP34	9736	broad.mit.edu	37	2	61431476	61431476	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:61431476T>C	ENST00000398571.2	-	74	9375	c.9299A>G	c.(9298-9300)aAg>aGg	p.K3100R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3100					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCCTATTAGCTTGATATTTTC	0.413																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9298-9300)aAg>aGg		ubiquitin specific peptidase 34							103.0	97.0	99.0					2																	61431476		1848	4100	5948	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61431476T>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9299A>G	2.37:g.61431476T>C	ENSP00000381577:p.Lys3100Arg						p.K3100R	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		74	9375	-			3100					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9299A>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990281	0.74589	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03951	3.75	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.55481	1.735	0.58432	D	0.999998	P	0.52842	0.956	D	0.65010	0.931	T	0.01259	-1.1403	10	0.30854	T	0.27	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	3100	Q70CQ2	UBP34_HUMAN	R	2948;2865;3100	ENSP00000381577:K3100R	ENSP00000263989:K2948R	K	-	2	0	USP34	61284980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.313000	0.78055	0.455000	0.32223	AAG		0.413	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			12	69	0	0	0	1	0	12	69				
SMO	6608	broad.mit.edu	37	7	128851608	128851608	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:128851608C>A	ENST00000249373.3	+	11	2213	c.1933C>A	c.(1933-1935)Cca>Aca	p.P645T	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	645					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	TGTGGCAACTCCAGGTATGAG	0.597			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1933-1935)Cca>Aca		smoothened, frizzled family receptor							57.0	58.0	57.0					7																	128851608		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128851608C>A	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1933C>A	7.37:g.128851608C>A	ENSP00000249373:p.Pro645Thr					RP11-286H14.8_ENST00000466717.1_RNA	p.P645T	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			11	2213	+			645					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.1933C>A	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933444	0.92458	.	.	ENSG00000128602	ENST00000249373	T	0.80480	-1.38	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.85183	0.1005	10	0.30078	T	0.28	.	18.1902	0.89805	0.0:1.0:0.0:0.0	.	645;645	A4D1K5;Q99835	.;SMO_HUMAN	T	645	ENSP00000249373:P645T	ENSP00000249373:P645T	P	+	1	0	SMO	128638844	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.355000	0.79434	2.625000	0.88918	0.655000	0.94253	CCA		0.597	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		12	54	1	0	7.03913e-09	1	7.2419e-09	12	54				
EXOC6B	23233	broad.mit.edu	37	2	72968471	72968471	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:72968471C>G	ENST00000272427.6	-	2	371	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E81Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	81					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						TTCAGCAGTTCAGTTATAGAG	0.418																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(241-243)Gaa>Caa		exocyst complex component 6B							179.0	172.0	174.0					2																	72968471		1851	4098	5949	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72968471C>G	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.241G>C	2.37:g.72968471C>G	ENSP00000272427:p.Glu81Gln					EXOC6B_ENST00000410104.1_Missense_Mutation_p.E81Q	p.E81Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			2	371	-			81					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.241G>C	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679069	0.88542	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.32023	1.47;1.47	5.29	5.29	0.74685	.	0.113640	0.64402	D	0.000015	T	0.50667	0.1629	M	0.64567	1.98	0.80722	D	1	D;D	0.57899	0.981;0.97	D;P	0.67900	0.954;0.857	T	0.34825	-0.9813	10	0.19147	T	0.46	.	17.52	0.87784	0.0:1.0:0.0:0.0	.	81;81	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	Q	81	ENSP00000272427:E81Q;ENSP00000386698:E81Q	ENSP00000272427:E81Q	E	-	1	0	EXOC6B	72821979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.459000	0.83118	0.655000	0.94253	GAA		0.418	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		32	144	0	0	0	1	0	32	144				
PSG4	5672	broad.mit.edu	37	19	43699264	43699264	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:43699264C>T	ENST00000405312.3	-	4	1108	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	PSG4_ENST00000433626.2_Missense_Mutation_p.E198K|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	291	Ig-like C2-type 2.				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)				ATCCTGTTTTCAATGGGTCGC	0.473																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(871-873)Gaa>Aaa		pregnancy specific beta-1-glycoprotein 4							233.0	221.0	225.0					19																	43699264		2202	4292	6494	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43699264C>T		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.871G>A	19.37:g.43699264C>T	ENSP00000384770:p.Glu291Lys					PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E198K	p.E291K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			4	1108	-		Prostate(69;0.00682)	291			Ig-like C2-type 2.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.871G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	5.743	0.321581	0.10845	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.09817	2.94;2.94	1.45	0.279	0.15677	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10809	0.0264	L	0.45137	1.4	0.09310	N	1	B;B	0.23128	0.08;0.006	B;B	0.35278	0.199;0.02	T	0.42120	-0.9470	9	0.38643	T	0.18	.	4.9538	0.14029	0.0:0.7793:0.0:0.2207	.	198;291	E7EX79;Q00888	.;PSG4_HUMAN	K	291;198	ENSP00000384770:E291K;ENSP00000387864:E198K	ENSP00000384770:E291K	E	-	1	0	PSG4	48391104	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.213000	0.17521	-0.154000	0.11118	-1.249000	0.01516	GAA		0.473	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		55	306	0	0	0	1	0	55	306				
NTNG2	84628	broad.mit.edu	37	9	135102294	135102294	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:135102294G>A	ENST00000393229.3	+	4	1692	c.916G>A	c.(916-918)Gag>Aag	p.E306K	NTNG2_ENST00000372179.3_Missense_Mutation_p.E306K|NTNG2_ENST00000393228.4_Missense_Mutation_p.E306K|NTNG2_ENST00000360670.3_Missense_Mutation_p.E306K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	306	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTGCAGTGCGAGTGCGAGCA	0.657																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(916-918)Gag>Aag		netrin G2							45.0	39.0	41.0					9																	135102294		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135102294G>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.916G>A	9.37:g.135102294G>A	ENSP00000376921:p.Glu306Lys					NTNG2_ENST00000393228.4_Missense_Mutation_p.E306K|NTNG2_ENST00000372179.3_Missense_Mutation_p.E306K|NTNG2_ENST00000360670.3_Missense_Mutation_p.E306K	p.E306K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	4	1692	+			306			Laminin EGF-like 1.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.916G>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650101	0.67472	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.86	4.86	0.63082	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.072599	0.53938	D	0.000041	T	0.56949	0.2020	M	0.64676	1.99	0.48696	D	0.999696	B	0.22480	0.07	B	0.17979	0.02	T	0.57740	-0.7759	10	0.49607	T	0.09	.	16.9626	0.86277	0.0:0.0:1.0:0.0	.	306	Q96CW9	NTNG2_HUMAN	K	306	ENSP00000376921:E306K;ENSP00000376920:E306K;ENSP00000353888:E306K;ENSP00000361252:E306K	ENSP00000353888:E306K	E	+	1	0	NTNG2	134092115	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.015000	0.70791	2.242000	0.73789	0.313000	0.20887	GAG		0.657	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		7	18	0	0	0	1	0	7	18				
DEAF1	10522	broad.mit.edu	37	11	687913	687913	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr11:687913G>C	ENST00000382409.3	-	4	1146	c.662C>G	c.(661-663)tCa>tGa	p.S221*	DEAF1_ENST00000338675.6_Nonsense_Mutation_p.S221*	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	221	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GTCCTCACCTGAGCCGAGCCT	0.517																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(661-663)tCa>tGa		DEAF1 transcription factor							75.0	69.0	71.0					11																	687913		2203	4300	6503	SO:0001587	stop_gained	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:687913G>C	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.662C>G	11.37:g.687913G>C	ENSP00000371846:p.Ser221*					DEAF1_ENST00000338675.6_Nonsense_Mutation_p.S221*	p.S221*	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	4	1146	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	221			SAND.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Nonsense_Mutation	SNP	ENST00000382409.3	37	c.662C>G	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	41	8.789850	0.98954	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	.	.	.	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.5171	16.7308	0.85434	0.0:0.0:1.0:0.0	.	.	.	.	X	221;221;207;144	.	ENSP00000341902:S221X	S	-	2	0	DEAF1	677913	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.500000	0.97977	2.292000	0.77174	0.655000	0.94253	TCA		0.517	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		10	51	0	0	0	1	0	10	51				
DNAJB11	51726	broad.mit.edu	37	3	186302284	186302284	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:186302284C>T	ENST00000439351.1	+	10	1847	c.918C>T	c.(916-918)ctC>ctT	p.L306L	DNAJB11_ENST00000265028.3_Silent_p.L306L			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	306					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GGGAAGGGCTCCCCAACTTTG	0.453																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(916-918)ctC>ctT		DnaJ (Hsp40) homolog, subfamily B, member 11							110.0	104.0	106.0					3																	186302284		2203	4300	6503	SO:0001819	synonymous_variant	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302284C>T	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.918C>T	3.37:g.186302284C>T						DNAJB11_ENST00000265028.3_Silent_p.L306L	p.L306L			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	10	1847	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		306					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Silent	SNP	ENST00000439351.1	37	c.918C>T	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	C	9.820	1.185540	0.21870	.	.	ENSG00000090520	ENST00000418776	.	.	.	6.08	3.18	0.36537	.	.	.	.	.	T	0.58609	0.2134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53781	-0.8390	4	.	.	.	-13.826	9.0646	0.36455	0.0:0.4548:0.4576:0.0877	.	.	.	.	S	107	.	.	P	+	1	0	DNAJB11	187784978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.867000	0.27968	0.854000	0.35336	0.655000	0.94253	CCC		0.453	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			5	65	0	0	0	1	0	5	65				
GUCY1A3	2982	broad.mit.edu	37	4	156632234	156632234	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:156632234G>A	ENST00000296518.7	+	6	1126	c.917G>A	c.(916-918)aGa>aAa	p.R306K	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R48K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R306K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	306					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AATGGCATCAGAAGGCTGATG	0.403																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(916-918)aGa>aAa		guanylate cyclase 1, soluble, alpha 3							70.0	69.0	69.0					4																	156632234		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632234G>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.917G>A	4.37:g.156632234G>A	ENSP00000296518:p.Arg306Lys					GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R306K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R48K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R306K	p.R306K			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	1126	+	all_hematologic(180;0.24)	Renal(120;0.0854)	306					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.917G>A	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270335	0.40194	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.76	4.05	0.47172	Haem NO binding associated (1);	0.000000	0.64402	D	0.000004	T	0.81777	0.4894	L	0.41236	1.265	0.30028	N	0.813755	B;B;B	0.15473	0.005;0.005;0.013	B;B;B	0.30646	0.077;0.077;0.118	T	0.72516	-0.4269	10	0.24483	T	0.36	.	9.71	0.40240	0.2097:0.0:0.7903:0.0	.	306;306;306	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	K	306;306;306;306;48;306;306	ENSP00000424361:R306K;ENSP00000421493:R306K;ENSP00000426968:R306K;ENSP00000412201:R306K;ENSP00000377418:R48K;ENSP00000296518:R306K;ENSP00000426040:R306K	ENSP00000296518:R306K	R	+	2	0	GUCY1A3	156851684	1.000000	0.71417	0.023000	0.16930	0.930000	0.56654	5.201000	0.65163	0.907000	0.36646	-0.148000	0.13756	AGA		0.403	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			17	61	0	0	0	1	0	17	61				
OR2M7	391196	broad.mit.edu	37	1	248487009	248487009	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:248487009G>C	ENST00000317965.2	-	1	890	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTATAAATGAGAGGATTCAGC	0.423																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(862-864)Ctc>Gtc		olfactory receptor, family 2, subfamily M, member 7							95.0	90.0	91.0					1																	248487009		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487009G>C	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.862C>G	1.37:g.248487009G>C	ENSP00000324557:p.Leu288Val						p.L288V	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	890	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		288					B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.862C>G	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	6.635	0.485570	0.12641	.	.	ENSG00000177186	ENST00000317965	T	0.39592	1.07	1.55	0.289	0.15723	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.58308	0.2113	M	0.71920	2.185	0.22171	N	0.99932	D	0.89917	1.0	D	0.87578	0.998	T	0.42832	-0.9428	9	0.56958	D	0.05	.	8.3875	0.32510	0.0:0.0:0.656:0.3439	.	288	Q8NG81	OR2M7_HUMAN	V	288	ENSP00000324557:L288V	ENSP00000324557:L288V	L	-	1	0	OR2M7	246553632	0.001000	0.12720	0.847000	0.33407	0.017000	0.09413	-0.398000	0.07259	0.850000	0.35239	0.194000	0.17425	CTC		0.423	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		22	69	0	0	0	1	0	22	69				
SCAF8	22828	broad.mit.edu	37	6	155143453	155143453	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:155143453C>T	ENST00000367178.3	+	16	2412	c.1836C>T	c.(1834-1836)gtC>gtT	p.V612V	RNU6-824P_ENST00000363724.1_RNA|SCAF8_ENST00000367186.4_Silent_p.V678V|SCAF8_ENST00000417268.1_Silent_p.V612V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	612					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						AAGAGACGGTCCAGACAACTC	0.433																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(1834-1836)gtC>gtT		SR-related CTD-associated factor 8							127.0	125.0	126.0					6																	155143453		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155143453C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1836C>T	6.37:g.155143453C>T						SCAF8_ENST00000367186.4_Silent_p.V678V|SCAF8_ENST00000417268.1_Silent_p.V612V	p.V612V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			16	2412	+			612					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.1836C>T	CCDS5247.1																																																																																				0.433	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		5	110	0	0	0	1	0	5	110				
RHPN2	85415	broad.mit.edu	37	19	33482768	33482768	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:33482768G>A	ENST00000254260.3	-	13	1640	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	RHPN2_ENST00000588683.1_5'Flank|RHPN2_ENST00000400226.4_Silent_p.P384P	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	535	PDZ.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GAACCTGAACGGGGGCGTTCC	0.517																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1603-1605)ccC>ccT		rhophilin, Rho GTPase binding protein 2							71.0	61.0	65.0					19																	33482768		2203	4300	6503	SO:0001819	synonymous_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33482768G>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1605C>T	19.37:g.33482768G>A						RHPN2_ENST00000400226.4_Silent_p.P384P	p.P535P	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			13	1640	-	Esophageal squamous(110;0.137)		535			PDZ.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.1605C>T	CCDS12427.1																																																																																				0.517	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		13	58	0	0	0	1	0	13	58				
ATP2B2	491	broad.mit.edu	37	3	10420934	10420934	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:10420934C>G	ENST00000352432.4	-	8	1104	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	ATP2B2_ENST00000343816.4_Intron|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000383800.4_Intron|ATP2B2_ENST00000360273.2_Missense_Mutation_p.Q345H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	345					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TACCTTTGCTCTGGCTGGCGT	0.522																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000360273.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1033-1035)caG>caC		ATPase, Ca++ transporting, plasma membrane 2							93.0	77.0	83.0					3																	10420934		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10420934C>G	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1035G>C	3.37:g.10420934C>G	ENSP00000324172:p.Gln345His					ATP2B2_ENST00000352432.4_Missense_Mutation_p.Q345H|ATP2B2_ENST00000343816.4_Intron|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000383800.4_Intron	p.Q345H	NM_001001331.2	NP_001001331.1	Q01814	AT2B2_HUMAN			9	1473	-			345					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1035G>C	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290442	0.80914	.	.	ENSG00000157087	ENST00000352432;ENST00000360273;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D	0.92199	-2.99;-2.99;-2.99	5.01	5.01	0.66863	ATPase, P-type, ATPase-associated domain (1);	1.261720	0.05709	N	0.595624	D	0.93919	0.8054	L	0.35854	1.095	0.80722	D	1	P;P	0.41569	0.603;0.755	P;P	0.53450	0.487;0.726	D	0.85939	0.1457	10	0.44086	T	0.13	-26.1238	18.5167	0.90937	0.0:1.0:0.0:0.0	.	280;345	F5H7F7;Q01814	.;AT2B2_HUMAN	H	345;345;280;201;345	ENSP00000324172:Q345H;ENSP00000353414:Q345H;ENSP00000414854:Q201H	ENSP00000342954:Q345H	Q	-	3	2	ATP2B2	10395934	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.700000	0.61803	2.595000	0.87683	0.655000	0.94253	CAG		0.522	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		11	17	0	0	0	1	0	11	17				
WHSC1	7468	broad.mit.edu	37	4	1941403	1941403	+	Silent	SNP	A	A	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr4:1941403A>G	ENST00000382895.3	+	11	2210	c.1779A>G	c.(1777-1779)gcA>gcG	p.A593A	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000503128.1_Silent_p.A593A|WHSC1_ENST00000398261.1_Silent_p.A593A|WHSC1_ENST00000514045.1_Silent_p.A593A|WHSC1_ENST00000382892.2_Silent_p.A593A|WHSC1_ENST00000508803.1_Silent_p.A593A|WHSC1_ENST00000420906.2_Silent_p.A593A|WHSC1_ENST00000382891.5_Silent_p.A593A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	593					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTCTGATGCATGTAAACCAC	0.378			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(1777-1779)gcA>gcG		Wolf-Hirschhorn syndrome candidate 1							75.0	72.0	73.0					4																	1941403		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1941403A>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1779A>G	4.37:g.1941403A>G						WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Silent_p.A593A|WHSC1_ENST00000514045.1_Silent_p.A593A|WHSC1_ENST00000382895.3_Silent_p.A593A|WHSC1_ENST00000398261.1_Silent_p.A593A|WHSC1_ENST00000382892.2_Silent_p.A593A|WHSC1_ENST00000382891.5_Silent_p.A593A|WHSC1_ENST00000420906.2_Silent_p.A593A	p.A593A			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	9	1986	+		all_epithelial(65;1.34e-05)	593					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.1779A>G	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924006	0.34002	.	.	ENSG00000109685	ENST00000514329	.	.	.	5.63	-5.98	0.02220	.	.	.	.	.	T	0.35653	0.0939	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	1.7814	0.03032	0.3309:0.1154:0.3458:0.2079	.	.	.	.	V	6	.	.	M	+	1	0	WHSC1	1911201	0.846000	0.29590	0.862000	0.33874	0.997000	0.91878	-0.135000	0.10420	-1.381000	0.02112	0.455000	0.32223	ATG		0.378	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		10	48	0	0	0	1	0	10	48				
KBTBD8	84541	broad.mit.edu	37	3	67049505	67049505	+	Silent	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:67049505C>G	ENST00000417314.2	+	2	166	c.117C>G	c.(115-117)ctC>ctG	p.L39L	KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.L13L			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	39						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTAAGCAACTCAAAACAATGT	0.453																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(37-39)ctC>ctG		kelch repeat and BTB (POZ) domain containing 8							134.0	120.0	125.0					3																	67049505		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67049505C>G	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.117C>G	3.37:g.67049505C>G						KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.L39L|KBTBD8_ENST00000469661.1_3'UTR	p.L13L	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	2	170	+		Lung NSC(201;0.0765)	39					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.39C>G	CCDS2906.2																																																																																				0.453	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		10	40	0	0	0	1	0	10	40				
KLHL1	57626	broad.mit.edu	37	13	70514196	70514196	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:70514196C>T	ENST00000377844.4	-	4	1749	c.990G>A	c.(988-990)atG>atA	p.M330I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M137I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	330					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.M330I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGGCCACCTTCATTAACTCAA	0.413																																						ENST00000377844.4																			1	Substitution - Missense(1)	p.M330I(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(988-990)atG>atA		kelch-like family member 1							78.0	71.0	73.0					13																	70514196		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70514196C>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.990G>A	13.37:g.70514196C>T	ENSP00000367075:p.Met330Ile					KLHL1_ENST00000545028.1_Missense_Mutation_p.M137I	p.M330I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	4	1749	-		Breast(118;0.000162)	330					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.990G>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790113	0.50102	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.68479	-0.33;-0.33	5.67	5.67	0.87782	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	L	0.28192	0.835	0.32279	N	0.567793	B;B	0.15473	0.004;0.013	B;B	0.21708	0.03;0.036	T	0.62765	-0.6785	10	0.56958	D	0.05	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	330;330	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	330;137	ENSP00000367075:M330I;ENSP00000439602:M137I	ENSP00000367075:M330I	M	-	3	0	KLHL1	69412197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.580000	0.46068	2.671000	0.90904	0.557000	0.71058	ATG		0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		7	34	0	0	0	1	0	7	34				
LACRT	90070	broad.mit.edu	37	12	55026033	55026033	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:55026033T>C	ENST00000257867.4	-	3	298	c.245A>G	c.(244-246)aAc>aGc	p.N82S	LACRT_ENST00000547511.1_Missense_Mutation_p.N82S	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	82					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ACTCAGGGGGTTTAGTTCCTG	0.557																																						ENST00000257867.4																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						c.(244-246)aAc>aGc		lacritin							114.0	109.0	111.0					12																	55026033		2203	4300	6503	SO:0001583	missense	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55026033T>C	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.245A>G	12.37:g.55026033T>C	ENSP00000257867:p.Asn82Ser					LACRT_ENST00000547511.1_Missense_Mutation_p.N82S	p.N82S	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN			3	298	-			82						Missense_Mutation	SNP	ENST00000257867.4	37	c.245A>G	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	T	7.256	0.604232	0.14002	.	.	ENSG00000135413	ENST00000546721;ENST00000547511;ENST00000257867	.	.	.	2.73	-1.5	0.08691	.	2.175260	0.02659	N	0.107310	T	0.20047	0.0482	N	0.14661	0.345	0.09310	N	1	B	0.33044	0.395	B	0.30179	0.112	T	0.16012	-1.0417	9	0.87932	D	0	.	2.3647	0.04315	0.2159:0.2715:0.0:0.5126	.	82	Q9GZZ8	LACRT_HUMAN	S	52;82;82	.	ENSP00000257867:N82S	N	-	2	0	LACRT	53312300	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.509000	0.06336	-0.290000	0.09025	-0.695000	0.03696	AAC		0.557	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		21	75	0	0	0	1	0	21	75				
DZIP1	22873	broad.mit.edu	37	13	96242575	96242575	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr13:96242575G>C	ENST00000376829.2	-	17	2652	c.1801C>G	c.(1801-1803)Caa>Gaa	p.Q601E	DZIP1_ENST00000347108.3_Missense_Mutation_p.Q601E|DZIP1_ENST00000361156.3_Missense_Mutation_p.Q582E|DZIP1_ENST00000361396.2_Missense_Mutation_p.Q582E	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	601					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAGCTGACTTGATGTTCAAGG	0.348																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(1801-1803)Caa>Gaa		DAZ interacting zinc finger protein 1							194.0	176.0	182.0					13																	96242575		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96242575G>C	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1801C>G	13.37:g.96242575G>C	ENSP00000366025:p.Gln601Glu					DZIP1_ENST00000361396.2_Missense_Mutation_p.Q582E|DZIP1_ENST00000376829.2_Missense_Mutation_p.Q601E|DZIP1_ENST00000361156.3_Missense_Mutation_p.Q582E	p.Q601E			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		15	2233	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		601					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.1801C>G	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	G	8.253	0.809385	0.16537	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.06218	3.39;3.33;3.33;3.39	5.66	0.635	0.17723	.	0.441217	0.26163	N	0.025976	T	0.04543	0.0124	L	0.38175	1.15	0.09310	N	0.999998	B;B	0.15473	0.013;0.004	B;B	0.13407	0.009;0.004	T	0.47420	-0.9119	10	0.02654	T	1	-3.2984	11.8	0.52122	0.0:0.4945:0.3597:0.1458	.	582;601	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	E	601;582;582;601	ENSP00000257312:Q601E;ENSP00000355018:Q582E;ENSP00000355175:Q582E;ENSP00000366025:Q601E	ENSP00000257312:Q601E	Q	-	1	0	DZIP1	95040576	0.700000	0.27796	0.042000	0.18584	0.786000	0.44442	0.773000	0.26661	-0.224000	0.09928	-0.305000	0.09177	CAA		0.348	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		17	99	0	0	0	1	0	17	99				
SLC32A1	140679	broad.mit.edu	37	20	37356388	37356388	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr20:37356388C>T	ENST00000217420.1	+	2	947	c.684C>T	c.(682-684)ctC>ctT	p.L228L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	228					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GTGGCAACCTCATGTACAACA	0.617																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(682-684)ctC>ctT		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						123.0	90.0	101.0					20																	37356388		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356388C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.684C>T	20.37:g.37356388C>T							p.L228L	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	947	+		Myeloproliferative disorder(115;0.00878)	228					Q8N489	Silent	SNP	ENST00000217420.1	37	c.684C>T	CCDS13307.1																																																																																				0.617	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		16	50	0	0	0	1	0	16	50				
FOXG1	2290	broad.mit.edu	37	14	29237845	29237845	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr14:29237845G>C	ENST00000313071.4	+	1	1559	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	FOXG1_ENST00000382535.3_Missense_Mutation_p.E454Q	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	454					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTGCCCTGTGAGTCTTTAAG	0.582																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(1360-1362)Gag>Cag		forkhead box G1							70.0	69.0	69.0					14																	29237845		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237845G>C		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1360G>C	14.37:g.29237845G>C	ENSP00000339004:p.Glu454Gln					FOXG1_ENST00000313071.4_Missense_Mutation_p.E454Q	p.E454Q			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1729	+			454					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.1360G>C	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577452	0.45902	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93659	-3.26;-3.26	4.14	4.14	0.48551	.	0.444606	0.22808	U	0.055390	D	0.83857	0.5345	N	0.03608	-0.345	0.47621	D	0.999476	P	0.41673	0.759	B	0.37833	0.259	D	0.85111	0.0963	10	0.30078	T	0.28	.	16.7792	0.85559	0.0:0.0:1.0:0.0	.	454	P55316	FOXG1_HUMAN	Q	454	ENSP00000371975:E454Q;ENSP00000339004:E454Q	ENSP00000339004:E454Q	E	+	1	0	FOXG1	28307596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.220000	0.95180	2.006000	0.58801	0.491000	0.48974	GAG		0.582	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			13	66	0	0	0	1	0	13	66				
DCBLD1	285761	broad.mit.edu	37	6	117866741	117866741	+	Silent	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr6:117866741C>T	ENST00000338728.5	+	14	1716	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.L532L|DCBLD1_ENST00000534777.1_3'UTR|DCBLD1_ENST00000368503.4_Silent_p.L333L			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	532					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		AGTTAGATCTCATCACAAGTG	0.428																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1594-1596)ctC>ctT		discoidin, CUB and LCCL domain containing 1							157.0	142.0	147.0					6																	117866741		2203	4300	6503	SO:0001819	synonymous_variant	285761				cell adhesion	integral to membrane		g.chr6:117866741C>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1596C>T	6.37:g.117866741C>T						DCBLD1_ENST00000296955.8_Silent_p.L532L|DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Silent_p.L333L	p.L532L			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	14	1716	+		all_cancers(87;0.171)	532					Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37	c.1596C>T																																																																																					0.428	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		29	76	0	0	0	1	0	29	76				
VPS13B	157680	broad.mit.edu	37	8	100523670	100523670	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr8:100523670G>A	ENST00000358544.2	+	29	4749	c.4638G>A	c.(4636-4638)ttG>ttA	p.L1546L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L1521L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1546					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTTACCTTTGATTTATGTCA	0.358																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4636-4638)ttG>ttA		vacuolar protein sorting 13 homolog B (yeast)							37.0	36.0	36.0					8																	100523670		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100523670G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4638G>A	8.37:g.100523670G>A						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L1521L	p.L1546L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4749	+	Breast(36;3.73e-07)		1546					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.4638G>A	CCDS6280.1																																																																																				0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		9	21	0	0	0	1	0	9	21				
IGSF10	285313	broad.mit.edu	37	3	151162930	151162930	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr3:151162930C>G	ENST00000282466.3	-	4	4838	c.4839G>C	c.(4837-4839)caG>caC	p.Q1613H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1613					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGTGTTCTTCTGTCCATCCC	0.413																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(4837-4839)caG>caC		immunoglobulin superfamily, member 10							215.0	191.0	199.0					3																	151162930		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151162930C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4839G>C	3.37:g.151162930C>G	ENSP00000282466:p.Gln1613His						p.Q1613H	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4838	-			1613					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4839G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357594	0.61293	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.70164	-0.46	5.86	2.7	0.31948	.	0.152226	0.30437	N	0.009636	T	0.57917	0.2086	N	0.08118	0	0.20873	N	0.999838	D	0.67145	0.996	P	0.58820	0.846	T	0.52953	-0.8506	10	0.41790	T	0.15	.	10.8037	0.46504	0.0:0.7625:0.0:0.2375	.	1613	Q6WRI0	IGS10_HUMAN	H	1613;240	ENSP00000282466:Q1613H	ENSP00000282466:Q1613H	Q	-	3	2	IGSF10	152645620	0.000000	0.05858	0.860000	0.33809	0.963000	0.63663	0.259000	0.18405	0.833000	0.34828	0.650000	0.86243	CAG		0.413	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		26	111	0	0	0	1	0	26	111				
KNTC1	9735	broad.mit.edu	37	12	123082440	123082440	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:123082440G>A	ENST00000333479.7	+	44	4695	c.4518G>A	c.(4516-4518)acG>acA	p.T1506T	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1506			T -> M (in dbSNP:rs35315099).		mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTTTACTGACGAGCACAAAAG	0.502																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(4516-4518)acG>acA		kinetochore associated 1							81.0	82.0	82.0					12																	123082440		1947	4140	6087	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123082440G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4518G>A	12.37:g.123082440G>A						KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR	p.T1506T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	44	4695	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1506		T -> M (in dbSNP:rs35315099).			A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.4518G>A	CCDS45002.1																																																																																				0.502	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			18	84	0	0	0	1	0	18	84				
CEP350	9857	broad.mit.edu	37	1	180064688	180064688	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:180064688G>A	ENST00000367607.3	+	35	8960	c.8542G>A	c.(8542-8544)Gaa>Aaa	p.E2848K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2848					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGTGGGCAGGAAGAACTTGC	0.433																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(8542-8544)Gaa>Aaa		centrosomal protein 350kDa							68.0	74.0	72.0					1																	180064688		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180064688G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8542G>A	1.37:g.180064688G>A	ENSP00000356579:p.Glu2848Lys					CEP350_ENST00000490141.1_3'UTR	p.E2848K	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			35	8960	+			2848					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.8542G>A	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.133502|5.133502	0.94517|0.94517	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.63096|.	-0.02|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.47852|.	D|.	0.000204|.	T|T	0.72566|0.72566	0.3476|0.3476	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999999|0.999999	P;D|.	0.59767|.	0.952;0.986|.	P;P|.	0.61722|.	0.688;0.893|.	T|T	0.68428|0.68428	-0.5411|-0.5411	9|5	.|.	.|.	.|.	.|.	18.4719|18.4719	0.90777|0.90777	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2848;2848|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	K|E	2848;312|1022	ENSP00000356579:E2848K|.	.|.	E|G	+|+	1|2	0|0	CEP350|CEP350	178331311|178331311	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.074000|6.074000	0.71253|0.71253	2.808000|2.808000	0.96608|0.96608	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		5	77	0	0	0	1	0	5	77				
DCAF12	25853	broad.mit.edu	37	9	34107496	34107496	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:34107496C>G	ENST00000361264.4	-	3	742	c.401G>C	c.(400-402)gGa>gCa	p.G134A	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	134					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GGTCACACCTCCAGGCTCCCG	0.502																																						ENST00000361264.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(400-402)gGa>gCa		DDB1 and CUL4 associated factor 12							122.0	114.0	117.0					9																	34107496		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34107496C>G	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.401G>C	9.37:g.34107496C>G	ENSP00000355114:p.Gly134Ala					DCAF12_ENST00000463286.1_5'UTR	p.G134A	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN			3	742	-			134					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.401G>C	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	6.222	0.409115	0.11812	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.27402	1.67;1.67;1.67	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.258604	0.39544	N	0.001321	T	0.17066	0.0410	N	0.16903	0.455	0.40656	D	0.982083	B	0.02656	0.0	B	0.01281	0.0	T	0.09885	-1.0654	10	0.10902	T	0.67	-20.7436	11.2535	0.49039	0.0:0.9162:0.0:0.0838	.	134	Q5T6F0	DCA12_HUMAN	A	134;116;113	ENSP00000355114:G134A;ENSP00000380187:G116A;ENSP00000415833:G113A	ENSP00000355114:G134A	G	-	2	0	DCAF12	34097496	0.886000	0.30341	1.000000	0.80357	0.978000	0.69477	1.587000	0.36622	2.631000	0.89168	0.655000	0.94253	GGA		0.502	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		15	60	0	0	0	1	0	15	60				
MKL2	57496	broad.mit.edu	37	16	14340402	14340402	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr16:14340402C>T	ENST00000341243.5	+	10	1252	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	MKL2_ENST00000574045.1_Missense_Mutation_p.R429C|MKL2_ENST00000571589.1_Missense_Mutation_p.R429C|MKL2_ENST00000318282.5_Missense_Mutation_p.R429C			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	418	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCATTGAGCGCCTAAAACC	0.517																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1285-1287)Cgc>Tgc		MKL/myocardin-like 2							78.0	70.0	73.0					16																	14340402		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340402C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1252C>T	16.37:g.14340402C>T	ENSP00000345841:p.Arg418Cys					MKL2_ENST00000341243.5_Missense_Mutation_p.R418C|MKL2_ENST00000574045.1_Missense_Mutation_p.R429C|MKL2_ENST00000318282.5_Missense_Mutation_p.R429C	p.R429C	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	1457	+			418					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.1285C>T		.	.	.	.	.	.	.	.	.	.	C	21.4	4.140505	0.77775	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.86760	0.6010	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89807	0.3979	9	0.87932	D	0	-20.2116	14.1298	0.65245	0.1499:0.8501:0.0:0.0	.	429;429	B4DGT8;Q9ULH7-4	.;.	C	429;418	.	ENSP00000339086:R429C	R	+	1	0	MKL2	14247903	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.649000	0.61433	2.788000	0.95919	0.655000	0.94253	CGC		0.517	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		14	57	0	0	0	1	0	14	57				
ZNF131	7690	broad.mit.edu	37	5	43139394	43139394	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:43139394C>G	ENST00000399534.1	+	4	398	c.354C>G	c.(352-354)atC>atG	p.I118M	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.I118M|ZNF131_ENST00000306938.4_Missense_Mutation_p.I118M|ZNF131_ENST00000509156.1_Missense_Mutation_p.I118M|ZNF131_ENST00000505606.2_Missense_Mutation_p.I118M			P52739	ZN131_HUMAN	zinc finger protein 131	118					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TAGAAGCTATCAAAGCCCTTG	0.348																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(352-354)atC>atG		zinc finger protein 131							113.0	106.0	108.0					5																	43139394		1856	4099	5955	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43139394C>G	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.354C>G	5.37:g.43139394C>G	ENSP00000382450:p.Ile118Met					ZNF131_ENST00000399534.1_Missense_Mutation_p.I118M|ZNF131_ENST00000505606.2_Missense_Mutation_p.I118M|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.I118M|ZNF131_ENST00000306938.4_Missense_Mutation_p.I118M	p.I118M			P52739	ZN131_HUMAN			3	810	+			118					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.354C>G		.	.	.	.	.	.	.	.	.	.	C	17.09	3.300200	0.60195	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000508259;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634;ENST00000509341	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.39;-0.85;-0.85;-0.85;-0.85;-0.39	5.24	2.15	0.27550	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.050353	0.85682	D	0.000000	T	0.78755	0.4333	L	0.48260	1.515	0.36200	D	0.850639	D;D	0.71674	0.998;0.995	D;D	0.68943	0.961;0.925	T	0.80266	-0.1454	10	0.72032	D	0.01	-9.2091	9.5361	0.39224	0.0:0.6948:0.0:0.3052	.	118;118	P52739;P52739-2	ZN131_HUMAN;.	M	118	ENSP00000422079:I118M;ENSP00000426504:I118M;ENSP00000422659:I118M;ENSP00000305804:I118M;ENSP00000382450:I118M;ENSP00000423945:I118M;ENSP00000421246:I118M;ENSP00000424771:I118M	ENSP00000305804:I118M	I	+	3	3	ZNF131	43175151	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.370000	0.20433	0.100000	0.17581	0.655000	0.94253	ATC		0.348	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		24	80	0	0	0	1	0	24	80				
NBPF1	55672	broad.mit.edu	37	1	16902807	16902807	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr1:16902807C>T	ENST00000430580.2	-	19	2961	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	NBPF1_ENST00000432949.1_Missense_Mutation_p.E150K|NBPF1_ENST00000287968.8_Missense_Mutation_p.E57K|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	692						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTACACCCCTCAGCCAGCTGT	0.577																																						ENST00000430580.2																			0											c.(2074-2076)Gag>Aag		neuroblastoma breakpoint family, member 1							199.0	213.0	208.0					1																	16902807		1510	2703	4213	SO:0001583	missense	55672					cytoplasm		g.chr1:16902807C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2074G>A	1.37:g.16902807C>T	ENSP00000474456:p.Glu692Lys					NBPF1_ENST00000432949.1_Missense_Mutation_p.E150K|NBPF1_ENST00000287968.8_Missense_Mutation_p.E57K	p.E692K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2961	-			692					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2074G>A																																																																																					0.577	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		28	918	0	0	0	1	0	28	918				
PCDHA7	56141	broad.mit.edu	37	5	140214112	140214112	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:140214112C>G	ENST00000525929.1	+	1	144	c.144C>G	c.(142-144)atC>atG	p.I48M	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.I48M|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.597																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(142-144)atC>atG									59.0	73.0	68.0					5																	140214112		2203	4299	6502	SO:0001583	missense	56141							g.chr5:140214112C>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.144C>G	5.37:g.140214112C>G	ENSP00000436426:p.Ile48Met					PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.I48M|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.I48M	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	144	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.144C>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	c	14.37	2.514618	0.44763	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.35973	1.28;1.28	4.17	2.32	0.28847	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.63438	0.2511	H	0.94423	3.535	0.27370	N	0.955724	D;D	0.76494	0.999;0.988	D;D	0.67725	0.953;0.913	T	0.55471	-0.8136	9	0.87932	D	0	.	4.9115	0.13823	0.0:0.4157:0.328:0.2564	.	48;48	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	M	48	ENSP00000436426:I48M;ENSP00000367365:I48M	ENSP00000367365:I48M	I	+	3	3	PCDHA7	140194296	0.001000	0.12720	1.000000	0.80357	0.981000	0.71138	-1.787000	0.01764	0.315000	0.23110	-0.397000	0.06425	ATC		0.597	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		57	159	0	0	0	1	0	57	159				
NEB	4703	broad.mit.edu	37	2	152522033	152522033	+	Silent	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:152522033G>A	ENST00000172853.10	-	42	5199	c.5052C>T	c.(5050-5052)ttC>ttT	p.F1684F	NEB_ENST00000397345.3_Silent_p.F1684F|NEB_ENST00000427231.2_Silent_p.F1684F|NEB_ENST00000604864.1_Silent_p.F1684F|NEB_ENST00000409198.1_Silent_p.F1684F|NEB_ENST00000603639.1_Silent_p.F1684F			P20929	NEBU_HUMAN	nebulin	1684					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCAATTGGTGAAGTCAGATT	0.413																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5050-5052)ttC>ttT		nebulin							66.0	61.0	62.0					2																	152522033		1861	4100	5961	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152522033G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5052C>T	2.37:g.152522033G>A						NEB_ENST00000409198.1_Silent_p.F1684F|NEB_ENST00000604864.1_Silent_p.F1684F|NEB_ENST00000172853.10_Silent_p.F1684F|NEB_ENST00000397345.3_Silent_p.F1684F|NEB_ENST00000603639.1_Silent_p.F1684F	p.F1684F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	42	5254	-			1684					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.5052C>T																																																																																					0.413	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	17	0	0	0	1	0	7	17				
GFM2	84340	broad.mit.edu	37	5	74041581	74041581	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr5:74041581C>G	ENST00000296805.3	-	10	1228	c.771G>C	c.(769-771)gaG>gaC	p.E257D	GFM2_ENST00000345239.2_Missense_Mutation_p.E257D|GFM2_ENST00000509430.1_Missense_Mutation_p.E257D|GFM2_ENST00000427854.2_Missense_Mutation_p.E257D	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGGGCTTTCTCTCAAAGTCTT	0.348																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(769-771)gaG>gaC		G elongation factor, mitochondrial 2							87.0	82.0	84.0					5																	74041581		2202	4299	6501	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74041581C>G	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.771G>C	5.37:g.74041581C>G	ENSP00000296805:p.Glu257Asp					GFM2_ENST00000345239.2_Missense_Mutation_p.E257D|GFM2_ENST00000509430.1_Missense_Mutation_p.E257D|GFM2_ENST00000427854.2_Missense_Mutation_p.E257D	p.E257D	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	10	1228	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	257						Missense_Mutation	SNP	ENST00000296805.3	37	c.771G>C	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459652	0.26248	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000509097	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.79	4.92	0.64577	Protein synthesis factor, GTP-binding (1);	0.288547	0.42548	D	0.000688	T	0.56485	0.1988	L	0.28649	0.875	0.44579	D	0.997543	B;B;B;B;B	0.14805	0.007;0.004;0.004;0.008;0.011	B;B;B;B;B	0.18561	0.013;0.013;0.009;0.015;0.022	T	0.50233	-0.8852	10	0.18276	T	0.48	-5.2759	11.235	0.48936	0.0:0.8025:0.1289:0.0686	.	257;257;257;257;257	F5H687;Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;.;RRF2M_HUMAN	D	257;257;257;257;257;215	ENSP00000296805:E257D;ENSP00000296804:E257D;ENSP00000427004:E257D;ENSP00000405808:E257D;ENSP00000421717:E215D	ENSP00000296805:E257D	E	-	3	2	GFM2	74077337	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.372000	0.34261	1.428000	0.47296	0.655000	0.94253	GAG		0.348	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		12	34	0	0	0	1	0	12	34				
GAPDH	2597	broad.mit.edu	37	12	6646377	6646377	+	Silent	SNP	C	C	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr12:6646377C>A	ENST00000229239.5	+	6	1104	c.438C>A	c.(436-438)atC>atA	p.I146I	GAPDH_ENST00000396859.1_Silent_p.I146I|GAPDH_ENST00000396858.1_Silent_p.I104I|GAPDH_ENST00000396856.1_Silent_p.I71I|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Silent_p.I146I	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	146	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						GCCTCAAGATCATCAGGTGAG	0.592																																						ENST00000229239.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(436-438)atC>atA		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						53.0	53.0	53.0					12																	6646377		2203	4300	6503	SO:0001819	synonymous_variant	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646377C>A	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.438C>A	12.37:g.6646377C>A						GAPDH_ENST00000396861.1_Silent_p.I146I|GAPDH_ENST00000396859.1_Silent_p.I146I|GAPDH_ENST00000396856.1_Silent_p.I71I|GAPDH_ENST00000396858.1_Silent_p.I104I	p.I146I	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			6	1104	+			146			Interaction with WARS.		E7EUT4|P00354|Q53X65	Silent	SNP	ENST00000229239.5	37	c.438C>A	CCDS8549.1																																																																																				0.592	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		6	47	1	0	0.00307968	1	0.00310452	6	47				
MORN5	254956	broad.mit.edu	37	9	124929130	124929130	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr9:124929130G>A	ENST00000373764.3	+	2	193	c.131G>A	c.(130-132)gGa>gAa	p.G44E	MORN5_ENST00000536616.1_Missense_Mutation_p.G44E|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	44										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						CACGGCGAGGGAACCCTGTAC	0.527																																						ENST00000536616.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						c.(130-132)gGa>gAa		MORN repeat containing 5							78.0	59.0	66.0					9																	124929130		2203	4300	6503	SO:0001583	missense	254956							g.chr9:124929130G>A	AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.131G>A	9.37:g.124929130G>A	ENSP00000362869:p.Gly44Glu					MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G44E	p.G44E			Q5VZ52	MORN5_HUMAN			2	169	+			44					B7Z7I5|Q6ZQN1	Missense_Mutation	SNP	ENST00000373764.3	37	c.131G>A	CCDS6836.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589391	0.46214	.	.	ENSG00000185681	ENST00000373764;ENST00000536616;ENST00000418632	D;D;D	0.95885	-3.84;-3.84;-3.84	4.8	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.98729	0.9573	H	0.99712	4.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97919	1.0313	10	0.87932	D	0	-25.525	10.7358	0.46124	0.094:0.0:0.906:0.0	.	28;44;44	Q5T7S4;B7Z7I5;Q5VZ52	.;.;MORN5_HUMAN	E	44;44;28	ENSP00000362869:G44E;ENSP00000437483:G44E;ENSP00000409949:G28E	ENSP00000362869:G44E	G	+	2	0	MORN5	123968951	1.000000	0.71417	0.952000	0.39060	0.005000	0.04900	8.659000	0.91116	1.026000	0.39733	0.462000	0.41574	GGA		0.527	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053910.2	NM_198469		8	33	0	0	0	1	0	8	33				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	byFrequency	TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr21:11058248G>A	ENST00000470054.1	-	0	399							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							80.0	67.0	71.0					21																	11058248		692	1591	2283			85319							g.chr21:11058248G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058248G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	399	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	127	0	0	0	1	0	5	127				
TOM1L2	146691	broad.mit.edu	37	17	17783023	17783023	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:17783023C>T	ENST00000379504.3	-	7	778	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	TOM1L2_ENST00000535933.1_Missense_Mutation_p.R179Q|TOM1L2_ENST00000581396.1_Missense_Mutation_p.R182Q|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R187Q|TOM1L2_ENST00000542206.1_Missense_Mutation_p.R84Q|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R187Q|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R134Q	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	232	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGTGTTTCCTCGAACGACGTC	0.507																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(544-546)cGa>cAa		target of myb1-like 2 (chicken)							155.0	129.0	138.0					17																	17783023		2203	4300	6503	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17783023C>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.695G>A	17.37:g.17783023C>T	ENSP00000368818:p.Arg232Gln					TOM1L2_ENST00000535933.1_Missense_Mutation_p.R179Q|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R187Q|TOM1L2_ENST00000542206.1_Missense_Mutation_p.R84Q|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R232Q|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R187Q|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R134Q	p.R182Q	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			6	641	-	all_neural(463;0.228)		232					B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.545G>A	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207317	0.79240	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000395739;ENST00000535933;ENST00000540946;ENST00000542206;ENST00000537091	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.59	5.59	0.84812	GAT (2);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	L	0.27053	0.805	0.80722	D	1	D;D;D;P;D;D;D	0.89917	0.997;0.991;0.993;0.814;1.0;1.0;1.0	D;P;P;B;D;D;D	0.91635	0.929;0.777;0.858;0.364;0.998;0.999;0.999	T	0.49799	-0.8901	10	0.35671	T	0.21	-8.1253	19.5814	0.95468	0.0:1.0:0.0:0.0	.	182;134;84;179;187;232;182	B7Z8F0;B7Z2U2;F5H3S6;B7Z2L7;Q6ZVM7-3;Q6ZVM7;Q6ZVM7-2	.;.;.;.;.;TM1L2_HUMAN;.	Q	232;182;187;179;134;84;182	ENSP00000368818:R232Q;ENSP00000379088:R187Q;ENSP00000438621:R179Q;ENSP00000437655:R134Q;ENSP00000445188:R84Q	ENSP00000312860:R182Q	R	-	2	0	TOM1L2	17723748	1.000000	0.71417	0.993000	0.49108	0.855000	0.48748	3.329000	0.52060	2.617000	0.88574	0.650000	0.86243	CGA		0.507	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			26	102	0	0	0	1	0	26	102				
CNGA3	1261	broad.mit.edu	37	2	99012614	99012614	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr2:99012614delC	ENST00000272602.2	+	7	1020	c.981delC	c.(979-981)ttcfs	p.F327fs	CNGA3_ENST00000436404.2_Frame_Shift_Del_p.F309fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.F331fs|CNGA3_ENST00000393504.1_Frame_Shift_Del_p.F327fs			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	327					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTCCAAGTTCATTGGTTTTG	0.478																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(979-981)ttfs		cyclic nucleotide gated channel alpha 3							104.0	106.0	105.0					2																	99012614		2203	4300	6503	SO:0001589	frameshift_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012614delC	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.981delC	2.37:g.99012614delC	ENSP00000272602:p.Phe327fs					CNGA3_ENST00000272602.2_Frame_Shift_Del_p.F327fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.F331fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.F309fs	p.F327fs	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1398	+			327					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Frame_Shift_Del	DEL	ENST00000272602.2	37	c.981delC	CCDS2034.1																																																																																				0.478	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		19	112						19	112	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														442582					nucleus	binding	g.chr7:74300804delA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300804delA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80789724	80789725	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr17:80789724_80789725delGA	ENST00000269394.3	-	2	1439_1440	c.606_607delTC	c.(604-609)actcctfs	p.P203fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	203					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGTAGCCAGGAGTGTGGAAGG	0.569																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(604-609)acctfs		zinc finger protein 750																																				SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80789724_80789725delGA	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.606_607delTC	17.37:g.80789724_80789725delGA	ENSP00000269394:p.Pro203fs					TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	p.TP202fs	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1439_1440	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	202					Q9H899	Frame_Shift_Del	DEL	ENST00000269394.3	37	c.606_607delTC	CCDS11819.1																																																																																				0.569	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		25	43						25	43	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CN-A63Y-01A-11D-A30E-08	TCGA-CN-A63Y-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1573766d-cd60-4498-bdad-dcb8d6bc88c8	8582b1ee-b97e-42ab-be9f-5d3899704723	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			8	108						8	108	---	---	---	---
