#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
CCDC181	57821	broad.mit.edu	37	1	169390975	169390975	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:169390975C>G	ENST00000367806.3	-	3	846	c.694G>C	c.(694-696)Gac>Cac	p.D232H	CCDC181_ENST00000367805.3_Missense_Mutation_p.D232H|CCDC181_ENST00000545005.1_Missense_Mutation_p.D232H|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	232						nucleus (GO:0005634)											CTGGCAATGTCTTGTAAATTC	0.408																																						ENST00000545005.1																			0											c.(694-696)Gac>Cac		coiled-coil domain containing 181							113.0	113.0	113.0					1																	169390975		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390975C>G	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.694G>C	1.37:g.169390975C>G	ENSP00000356780:p.Asp232His		Somatic				CCDC181_ENST00000367806.3_Missense_Mutation_p.D232H|CCDC181_ENST00000367805.3_Missense_Mutation_p.D232H|CCDC181_ENST00000491570.1_5'UTR	p.D232H			WXS	Illumina GAIIx	Phase_I					4	1201	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.694G>C		.	.	.	.	.	.	.	.	.	.	C	20.6	4.013142	0.75161	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.35421	1.31;1.31;1.31;1.44	5.31	5.31	0.75309	.	0.239575	0.43110	D	0.000611	T	0.55321	0.1913	M	0.72118	2.19	0.40302	D	0.978623	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.60052	-0.7338	9	0.87932	D	0	-17.669	18.9726	0.92721	0.0:1.0:0.0:0.0	.	232;232;232	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	H	232	ENSP00000356779:D232H;ENSP00000356780:D232H;ENSP00000442297:D232H;ENSP00000411000:D232H	ENSP00000356779:D232H	D	-	1	0	C1orf114	167657599	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.453000	0.73488	2.473000	0.83533	0.557000	0.71058	GAC		0.408	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		13	206	0	0	0	1	0	13	206				
DDHD1	80821	broad.mit.edu	37	14	53522428	53522428	+	Missense_Mutation	SNP	C	C	T	rs143188831		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:53522428C>T	ENST00000323669.5	-	10	2194	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	DDHD1_ENST00000357758.3_Missense_Mutation_p.R732H|DDHD1_ENST00000395606.1_Missense_Mutation_p.R739H|DDHD1_ENST00000555621.1_5'Flank	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	732	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATAGTGTCGGCGGGACAAAAC	0.403																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2194-2196)cGc>cAc		DDHD domain containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	176.0	175.0	176.0		2216,2195,2195	6.0	1.0	14	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	DDHD1	NM_001160147.1,NM_001160148.1,NM_030637.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	739/880,732/901,732/873	53522428	2,13004	2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53522428C>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2195G>A	14.37:g.53522428C>T	ENSP00000327104:p.Arg732His		Somatic				DDHD1_ENST00000323669.5_Missense_Mutation_p.R732H|DDHD1_ENST00000395606.1_Missense_Mutation_p.R739H	p.R732H	NM_030637.2	NP_085140.2	WXS	Illumina GAIIx	Phase_I	Q8NEL9	DDHD1_HUMAN			10	2378	-	Breast(41;0.037)		732			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2195G>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421094	0.96111	0.0	2.33E-4	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.97	5.97	0.96955	DDHD (2);	0.047041	0.85682	D	0.000000	T	0.79661	0.4484	M	0.67569	2.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.994;0.984;1.0;0.956	T	0.79252	-0.1880	9	0.66056	D	0.02	-14.8791	20.4239	0.99064	0.0:1.0:0.0:0.0	.	128;739;732;732	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	H	732;739;732;603	.	ENSP00000327104:R732H	R	-	2	0	DDHD1	52592178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.796000	0.85898	2.828000	0.97474	0.655000	0.94253	CGC		0.403	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			5	326	0	0	0	1	0	5	326				
RHBDL3	162494	broad.mit.edu	37	17	30643271	30643271	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr17:30643271C>T	ENST00000269051.4	+	8	917	c.903C>T	c.(901-903)tgC>tgT	p.C301C	RHBDL3_ENST00000538145.1_Silent_p.C293C|RHBDL3_ENST00000536287.1_Silent_p.C203C	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	301						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GCATGAAGTGCCAGTTCAAGC	0.522																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(901-903)tgC>tgT		rhomboid, veinlet-like 3 (Drosophila)							173.0	174.0	174.0					17																	30643271		2203	4300	6503	SO:0001819	synonymous_variant	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30643271C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.903C>T	17.37:g.30643271C>T			Somatic				RHBDL3_ENST00000536287.1_Silent_p.C203C|RHBDL3_ENST00000538145.1_Silent_p.C293C	p.C301C	NM_138328.2	NP_612201.1	WXS	Illumina GAIIx	Phase_I	P58872	RHBL3_HUMAN			8	917	+		Breast(31;0.116)|Ovarian(249;0.182)	301					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	c.903C>T	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920313	0.33908	.	.	ENSG00000141314	ENST00000431505	T	0.63913	-0.07	5.56	-1.27	0.09347	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	B	0.18013	0.025	B	0.23574	0.047	T	0.25572	-1.0128	8	0.21540	T	0.41	.	12.6009	0.56497	0.0:0.6777:0.0:0.3223	.	268	E9PD28	.	S	268	ENSP00000394849:P268S	ENSP00000394849:P268S	P	+	1	0	RHBDL3	27667384	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	0.707000	0.25704	-0.064000	0.13043	-0.244000	0.11960	CCA		0.522	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		5	316	0	0	0	1	0	5	316				
PCDHGB4	8641	broad.mit.edu	37	5	140769744	140769744	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr5:140769744C>G	ENST00000519479.1	+	1	2293	c.2293C>G	c.(2293-2295)Cta>Gta	p.L765V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_5'Flank	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	765					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTAATTTCCTAAAATGTAG	0.433																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(2293-2295)Cta>Gta									266.0	267.0	267.0					5																	140769744		1903	4144	6047	SO:0001583	missense	8641							g.chr5:140769744C>G	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2293C>G	5.37:g.140769744C>G	ENSP00000428288:p.Leu765Val		Somatic				PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.L765V	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2293	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.2293C>G	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	9.965	1.223914	0.22457	.	.	ENSG00000253953	ENST00000519479	T	0.52295	0.67	5.42	5.42	0.78866	.	.	.	.	.	T	0.56746	0.2006	M	0.83953	2.67	0.24157	N	0.995677	B;B	0.34161	0.439;0.312	B;B	0.35727	0.209;0.103	T	0.54529	-0.8280	9	0.35671	T	0.21	.	17.9866	0.89157	0.0:1.0:0.0:0.0	.	765;765	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	V	765	ENSP00000428288:L765V	ENSP00000428288:L765V	L	+	1	2	PCDHGB4	140749928	0.916000	0.31088	0.968000	0.41197	0.656000	0.38851	2.155000	0.42301	2.542000	0.85734	0.563000	0.77884	CTA		0.433	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		203	282	0	0	0	1	0	203	282				
MUC4	4585	broad.mit.edu	37	3	195516104	195516104	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr3:195516104C>T	ENST00000463781.3	-	2	2806	c.2347G>A	c.(2347-2349)Gga>Aga	p.G783R	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G783R|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	788					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGTTTGTCCAGAGGCCTCT	0.622																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2347-2349)Gga>Aga		mucin 4, cell surface associated							87.0	96.0	93.0					3																	195516104		2174	4272	6446	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516104C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2347G>A	3.37:g.195516104C>T	ENSP00000417498:p.Gly783Arg		Somatic				MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G783R|MUC4_ENST00000346145.4_Intron	p.G783R	NM_018406.6	NP_060876.5	WXS	Illumina GAIIx	Phase_I	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2806	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	788					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2347G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.864	0.160633	0.09287	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.59364	0.27;0.3	2.85	-1.2	0.09554	.	2.222680	0.01955	N	0.042888	T	0.31670	0.0804	N	0.08118	0	0.09310	N	1	B;B	0.34290	0.447;0.218	B;B	0.32342	0.144;0.044	T	0.09164	-1.0687	10	0.14656	T	0.56	-0.0278	3.4057	0.07340	0.0:0.4153:0.2035:0.3813	.	783;788	E7ESK3;Q99102	.;MUC4_HUMAN	R	783;783;757	ENSP00000417498:G783R;ENSP00000420243:G783R	ENSP00000376209:G757R	G	-	1	0	MUC4	197000499	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.288000	0.01150	-0.301000	0.08882	-0.208000	0.12717	GGA		0.622	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		34	68	0	0	0	1	0	34	68				
CNR2	1269	broad.mit.edu	37	1	24202093	24202093	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:24202093C>A	ENST00000374472.4	-	2	176	c.15G>T	c.(13-15)tgG>tgT	p.W5C	CNR2_ENST00000536471.1_Missense_Mutation_p.W5C	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	5					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TCTCTGTCACCCAGCATTCCT	0.473																																						ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(13-15)tgG>tgT		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						95.0	102.0	99.0					1																	24202093		2201	4299	6500	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24202093C>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.15G>T	1.37:g.24202093C>A	ENSP00000363596:p.Trp5Cys		Somatic				CNR2_ENST00000374472.4_Missense_Mutation_p.W5C	p.W5C			WXS	Illumina GAIIx	Phase_I	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	273	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	5					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.15G>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932047	0.34096	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.77750	-1.12;-1.12	6.04	4.12	0.48240	.	1.002150	0.08048	N	0.996238	T	0.68146	0.2969	N	0.08118	0	0.18873	N	0.999985	P	0.40144	0.704	P	0.45913	0.497	T	0.59830	-0.7380	10	0.66056	D	0.02	.	9.4925	0.38969	0.0:0.8276:0.0:0.1724	.	5	P34972	CNR2_HUMAN	C	5	ENSP00000363596:W5C;ENSP00000442830:W5C	ENSP00000363596:W5C	W	-	3	0	CNR2	24074680	0.000000	0.05858	0.001000	0.08648	0.855000	0.48748	0.125000	0.15749	0.818000	0.34468	0.561000	0.74099	TGG		0.473	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		80	131	1	0	7.30829e-53	1	8.00908e-53	80	131				
DPYSL4	10570	broad.mit.edu	37	10	134016279	134016279	+	Missense_Mutation	SNP	C	C	T	rs143213280		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr10:134016279C>T	ENST00000338492.4	+	12	1575	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	471					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CTTCGTCCCTCGGAAAACATT	0.642																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1411-1413)Cgg>Tgg		dihydropyrimidinase-like 4							60.0	67.0	65.0					10																	134016279		2203	4299	6502	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134016279C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1411C>T	10.37:g.134016279C>T	ENSP00000339850:p.Arg471Trp		Somatic				DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	p.R471W	NM_006426.2	NP_006417.2	WXS	Illumina GAIIx	Phase_I	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	12	1575	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	471					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1411C>T	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169846	0.38315	.	.	ENSG00000151640	ENST00000338492	T	0.80653	-1.4	4.26	3.33	0.38152	Metal-dependent hydrolase, composite domain (1);	0.122178	0.53938	D	0.000060	D	0.88934	0.6572	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88648	0.3180	10	0.87932	D	0	-21.0407	5.5032	0.16840	0.1747:0.6518:0.0:0.1735	.	471	O14531	DPYL4_HUMAN	W	471	ENSP00000339850:R471W	ENSP00000339850:R471W	R	+	1	2	DPYSL4	133866269	0.000000	0.05858	0.788000	0.31933	0.060000	0.15804	-0.357000	0.07651	2.201000	0.70794	0.555000	0.69702	CGG		0.642	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			7	83	0	0	0	1	0	7	83				
PGF	5228	broad.mit.edu	37	14	75420625	75420625	+	Missense_Mutation	SNP	C	C	T	rs200980724		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:75420625C>T	ENST00000405431.2	-	2	99	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	PGF_ENST00000555567.1_Missense_Mutation_p.G34S|PGF_ENST00000553716.1_Missense_Mutation_p.G34S|PGF_ENST00000238607.6_Missense_Mutation_p.G33S			P49763	PLGF_HUMAN	placental growth factor	34					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	TCTGACGAGCCGTTCCCAGCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17910	0.0		0.0	False		,,,				2504	0.0				GBM(127;389 2301 5452 48547)	ENST00000555567.1																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(100-102)Ggc>Agc		placental growth factor							101.0	77.0	85.0					14																	75420625		2203	4300	6503	SO:0001583	missense	5228				angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding	g.chr14:75420625C>T	S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.100G>A	14.37:g.75420625C>T	ENSP00000385365:p.Gly34Ser		Somatic				PGF_ENST00000553716.1_Missense_Mutation_p.G34S|PGF_ENST00000238607.6_Missense_Mutation_p.G33S|PGF_ENST00000405431.2_Missense_Mutation_p.G34S	p.G34S	NM_002632.5	NP_002623.2	WXS	Illumina GAIIx	Phase_I	P49763	PLGF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00668)	2	641	-			34					Q07101|Q9BV78|Q9Y6S8	Missense_Mutation	SNP	ENST00000405431.2	37	c.100G>A	CCDS9835.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.24	1.878298	0.33162	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	4.92	-5.89	0.02282	.	2.676020	0.02110	N	0.054733	T	0.19604	0.0471	N	0.12182	0.205	0.09310	N	1	P;B;B;B	0.34462	0.454;0.001;0.0;0.0	B;B;B;B	0.20384	0.029;0.001;0.001;0.001	T	0.16571	-1.0398	9	0.42905	T	0.14	.	13.8154	0.63287	0.0:0.255:0.0:0.745	.	34;34;33;34	P49763;P49763-2;G3XA84;Q53XY6	PLGF_HUMAN;.;.;.	S	34;34;33;34	.	ENSP00000238607:G34S	G	-	1	0	PGF	74490378	0.002000	0.14202	0.004000	0.12327	0.955000	0.61496	-1.506000	0.02271	-1.226000	0.02574	0.561000	0.74099	GGC		0.597	PGF-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414064.1	NM_002632		4	45	0	0	0	1	0	4	45				
PSMD13	5719	broad.mit.edu	37	11	250865	250865	+	Splice_Site	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:250865G>A	ENST00000532097.1	+	10	1341	c.837G>A	c.(835-837)gaG>gaA	p.E279E	PSMD13_ENST00000431206.2_Splice_Site_p.E281E|PSMD13_ENST00000352303.5_Splice_Site_p.E279E	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	279	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GCCTCATGGAGGTAAGCGAAC	0.478											OREG0020657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000532097.1																			0				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10						c.e10+1		proteasome (prosome, macropain) 26S subunit, non-ATPase, 13							116.0	105.0	109.0					11																	250865		2203	4300	6503	SO:0001630	splice_region_variant	5719				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr11:250865G>A	AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.837+1G>A	11.37:g.250865G>A			Somatic	OREG0020657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	586	PSMD13_ENST00000352303.5_Splice_Site_p.E279_splice|PSMD13_ENST00000431206.2_Splice_Site_p.E281_splice	p.E279_splice	NM_002817.3	NP_002808.3	WXS	Illumina GAIIx	Phase_I	Q9UNM6	PSD13_HUMAN		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)	10	1341	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	279			PCI.		B3KT15|O75831|Q53XU2|Q9UNV3	Splice_Site	SNP	ENST00000532097.1	37	c.837_splice	CCDS7692.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494864	0.44352	.	.	ENSG00000185627	ENST00000526783	.	.	.	5.73	4.79	0.61399	.	.	.	.	.	T	0.71117	0.3302	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70828	-0.4766	4	.	.	.	.	15.5801	0.76428	0.0:0.1384:0.8616:0.0	.	.	.	.	K	190	.	.	R	+	2	0	PSMD13	240865	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.442000	0.97566	1.497000	0.48584	0.655000	0.94253	AGA		0.478	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817	Silent	7	186	0	0	0	1	0	7	186				
YPEL2	388403	broad.mit.edu	37	17	57466804	57466804	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr17:57466804G>A	ENST00000312655.4	+	4	563	c.245G>A	c.(244-246)tGc>tAc	p.C82Y	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Missense_Mutation_p.C82Y	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	82						nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGTGAAAACTGCAAAACCACT	0.483																																					Melanoma(86;1113 1364 8518 42220 42625)	ENST00000312655.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(244-246)tGc>tAc		yippee-like 2 (Drosophila)							84.0	72.0	76.0					17																	57466804		2203	4300	6503	SO:0001583	missense	388403					nucleolus		g.chr17:57466804G>A	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.245G>A	17.37:g.57466804G>A	ENSP00000312272:p.Cys82Tyr		Somatic				YPEL2_ENST00000585166.1_Missense_Mutation_p.C82Y|YPEL2_ENST00000581865.1_3'UTR	p.C82Y	NM_001005404.3	NP_001005404.1	WXS	Illumina GAIIx	Phase_I	Q96QA6	YPEL2_HUMAN			4	563	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		82					A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Missense_Mutation	SNP	ENST00000312655.4	37	c.245G>A	CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004192	0.93287	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.90297	0.6965	H	0.97340	3.985	0.80722	D	1	D	0.67145	0.996	D	0.71870	0.975	D	0.92865	0.6309	9	0.87932	D	0	-4.0805	19.5633	0.95382	0.0:0.0:1.0:0.0	.	82	Q96QA6	YPEL2_HUMAN	Y	82	.	ENSP00000312272:C82Y	C	+	2	0	YPEL2	54821586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.869000	0.98440	0.558000	0.71614	TGC		0.483	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070		3	52	0	0	0	1	0	3	52				
LGR5	8549	broad.mit.edu	37	12	71971760	71971760	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr12:71971760C>T	ENST00000266674.5	+	14	1575	c.1264C>T	c.(1264-1266)Cca>Tca	p.P422S	LGR5_ENST00000540815.2_Missense_Mutation_p.P398S|LGR5_ENST00000536515.1_Missense_Mutation_p.P350S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	422					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCCACTTTGCCATCCCTAAT	0.313																																						ENST00000266674.5																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1264-1266)Cca>Tca		leucine-rich repeat containing G protein-coupled receptor 5							148.0	145.0	146.0					12																	71971760		2202	4300	6502	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71971760C>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1264C>T	12.37:g.71971760C>T	ENSP00000266674:p.Pro422Ser		Somatic				LGR5_ENST00000540815.2_Missense_Mutation_p.P398S|LGR5_ENST00000536515.1_Missense_Mutation_p.P350S	p.P422S			WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			14	1575	+			422					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1264C>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	5.149	0.213085	0.09757	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.59364	0.27;0.27;0.27	5.31	4.41	0.53225	.	0.208405	0.33980	N	0.004374	T	0.43233	0.1238	N	0.25647	0.755	0.38774	D	0.954606	B;B	0.15473	0.01;0.013	B;B	0.22152	0.022;0.038	T	0.35773	-0.9775	10	0.07030	T	0.85	.	16.0011	0.80292	0.0:0.8653:0.1347:0.0	.	398;422	O75473-2;O75473	.;LGR5_HUMAN	S	422;422;350;398	ENSP00000266674:P422S;ENSP00000443033:P350S;ENSP00000441035:P398S	ENSP00000266674:P422S	P	+	1	0	LGR5	70258027	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	2.005000	0.40864	1.234000	0.43709	0.650000	0.86243	CCA		0.313	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		5	306	0	0	0	1	0	5	306				
CCDC89	220388	broad.mit.edu	37	11	85396245	85396245	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:85396245G>A	ENST00000316398.3	-	1	1075	c.929C>T	c.(928-930)gCg>gTg	p.A310V	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	310						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCGCTCCAGCGCATGCTTCCT	0.512																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(928-930)gCg>gTg		coiled-coil domain containing 89							150.0	118.0	129.0					11																	85396245		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396245G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.929C>T	11.37:g.85396245G>A	ENSP00000320649:p.Ala310Val		Somatic					p.A310V	NM_152723.1	NP_689936.1	WXS	Illumina GAIIx	Phase_I	Q8N998	CCD89_HUMAN			1	1075	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	310						Missense_Mutation	SNP	ENST00000316398.3	37	c.929C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546463	0.45383	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.78049	2.395	0.50813	D	0.999893	D	0.89917	1.0	D	0.77004	0.989	T	0.81538	-0.0887	8	.	.	.	-8.9324	20.6208	0.99490	0.0:0.0:1.0:0.0	.	310	Q8N998	CCD89_HUMAN	V	310	.	.	A	-	2	0	CCDC89	85073893	0.998000	0.40836	0.082000	0.20525	0.119000	0.20118	4.015000	0.57152	2.882000	0.98803	0.655000	0.94253	GCG		0.512	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		4	180	0	0	0	1	0	4	180				
ZG16B	124220	broad.mit.edu	37	16	2882103	2882103	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr16:2882103G>A	ENST00000382280.3	+	4	649	c.570G>A	c.(568-570)ccG>ccA	p.P190P	ZG16B_ENST00000572863.1_Silent_p.P160P	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	190					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TAGAGGAGCCGACCACTGAGC	0.562																																						ENST00000382280.3																			0				central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(568-570)ccG>ccA		zymogen granule protein 16B							76.0	78.0	77.0					16																	2882103		1999	4177	6176	SO:0001819	synonymous_variant	124220					extracellular region	sugar binding	g.chr16:2882103G>A	BC009722	CCDS10479.2	16p13.3	2014-02-12	2012-12-07		ENSG00000162078	ENSG00000162078			30456	protein-coding gene	gene with protein product	"""jacalin-like lectin domain containing 2"""		"""zymogen granule protein 16 homolog B (rat)"""			12477932	Standard	NM_145252		Approved	HRPE773, PRO1567, JCLN2	uc002cru.3	Q96DA0	OTTHUMG00000128933	ENST00000382280.3:c.570G>A	16.37:g.2882103G>A			Somatic				ZG16B_ENST00000572863.1_Silent_p.P160P	p.P190P	NM_145252.2	NP_660295.2	WXS	Illumina GAIIx	Phase_I	Q96DA0	ZG16B_HUMAN			4	649	+			190					A6NIY1|B2R4F6|Q6UW28	Silent	SNP	ENST00000382280.3	37	c.570G>A	CCDS10479.2																																																																																				0.562	ZG16B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250912.1	NM_145252		5	110	0	0	0	1	0	5	110				
A2M	2	broad.mit.edu	37	12	9248274	9248274	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr12:9248274T>C	ENST00000318602.7	-	16	2181	c.1874A>G	c.(1873-1875)aAg>aGg	p.K625R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	625					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGTGAGGTCCTTTTCTGGTAG	0.353																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1873-1875)aAg>aGg		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						91.0	88.0	89.0					12																	9248274		1840	4095	5935	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9248274T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1874A>G	12.37:g.9248274T>C	ENSP00000323929:p.Lys625Arg		Somatic					p.K625R	NM_000014.4	NP_000005.2	WXS	Illumina GAIIx	Phase_I	P01023	A2MG_HUMAN			16	2181	-			625					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1874A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	2.997	-0.206972	0.06180	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.30182	1.54	5.65	1.87	0.25490	.	1.918670	0.02461	N	0.086595	T	0.35189	0.0923	M	0.67625	2.065	0.09310	N	1	B	0.31989	0.35	B	0.34301	0.179	T	0.15435	-1.0437	10	0.36615	T	0.2	.	5.5481	0.17076	0.1278:0.144:0.0:0.7282	.	625	P01023	A2MG_HUMAN	R	625;640	ENSP00000323929:K625R	ENSP00000323929:K625R	K	-	2	0	A2M	9139541	0.996000	0.38824	0.021000	0.16686	0.122000	0.20287	2.545000	0.45769	0.126000	0.18424	-0.297000	0.09499	AAG		0.353	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	233	0	0	0	1	0	3	233				
FLRT2	23768	broad.mit.edu	37	14	86089264	86089264	+	Missense_Mutation	SNP	G	G	A	rs200926038		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:86089264G>A	ENST00000330753.4	+	2	2173	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	469	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTTCAGGAGCGCATAGTCAGC	0.507																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1405-1407)cGc>cAc		fibronectin leucine rich transmembrane protein 2							128.0	112.0	117.0					14																	86089264		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089264G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1406G>A	14.37:g.86089264G>A	ENSP00000332879:p.Arg469His		Somatic				FLRT2_ENST00000554746.1_Missense_Mutation_p.R469H	p.R469H	NM_013231.4	NP_037363.1	WXS	Illumina GAIIx	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2173	+			469			Fibronectin type-III.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1406G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037144	0.75617	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58060	0.36;0.36	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	L	0.38175	1.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	T	0.61667	-0.7016	10	0.45353	T	0.12	-24.0392	20.8794	0.99867	0.0:0.0:1.0:0.0	.	469	O43155	FLRT2_HUMAN	H	469;469;122	ENSP00000332879:R469H;ENSP00000451050:R469H	ENSP00000332879:R469H	R	+	2	0	FLRT2	85159017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.947000	0.56652	2.941000	0.99782	0.655000	0.94253	CGC		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			4	248	0	0	0	1	0	4	248				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	7	0	0	0	1	0	3	7				
OXA1L	5018	broad.mit.edu	37	14	23239116	23239116	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:23239116G>A	ENST00000604262.1	+	4	579	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	OXA1L_ENST00000285848.5_Missense_Mutation_p.A246T|OXA1L_ENST00000412791.1_Missense_Mutation_p.A186T|OXA1L_ENST00000358043.5_Missense_Mutation_p.A170T			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	186					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AATCAGAGAGGCCAAGTTAGC	0.507																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(508-510)Gcc>Acc		oxidase (cytochrome c) assembly 1-like							494.0	472.0	480.0					14																	23239116		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23239116G>A		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.556G>A	14.37:g.23239116G>A	ENSP00000474623:p.Ala186Thr		Somatic				OXA1L_ENST00000604262.1_Missense_Mutation_p.A186T|OXA1L_ENST00000285848.5_Missense_Mutation_p.A246T|OXA1L_ENST00000412791.1_Missense_Mutation_p.A186T	p.A170T			WXS	Illumina GAIIx	Phase_I	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	4	826	+	all_cancers(95;8.44e-05)		186					B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.508G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.202917	0.94997	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.37235	1.21;1.28;1.23	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.995;0.997	T	0.65685	-0.6108	10	0.59425	D	0.04	-18.0381	19.2492	0.93917	0.0:0.0:1.0:0.0	.	186;186;246	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	T	246;55;186;170	ENSP00000285848:A246T;ENSP00000387601:A186T;ENSP00000350740:A170T	ENSP00000285848:A246T	A	+	1	0	OXA1L	22308956	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.987000	0.88182	2.840000	0.97914	0.655000	0.94253	GCC		0.507	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		39	1608	0	0	0	1	0	39	1608				
PRKDC	5591	broad.mit.edu	37	8	48839848	48839848	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr8:48839848T>G	ENST00000314191.2	-	21	2381	c.2325A>C	c.(2323-2325)gaA>gaC	p.E775D	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E775D	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	775					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAATTGACCATTCTTCTAGAG	0.428								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(2323-2325)gaA>gaC	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							98.0	89.0	92.0					8																	48839848		1882	4110	5992	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48839848T>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2325A>C	8.37:g.48839848T>G	ENSP00000313420:p.Glu775Asp		Somatic				PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E775D	p.E775D	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			21	2381	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	775					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.2325A>C		.	.	.	.	.	.	.	.	.	.	T	8.472	0.857730	0.17178	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.68331	-0.15;-0.32	5.83	-1.27	0.09347	Armadillo-type fold (1);	0.201302	0.41097	D	0.000946	T	0.36441	0.0967	.	.	.	0.27473	N	0.952817	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.002	T	0.10941	-1.0608	9	0.12766	T	0.61	.	3.3461	0.07136	0.0948:0.3622:0.1731:0.3699	.	775;775;775	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	D	775	ENSP00000313420:E775D;ENSP00000345182:E775D	ENSP00000313420:E775D	E	-	3	2	PRKDC	49002401	0.999000	0.42202	0.996000	0.52242	0.544000	0.35116	0.391000	0.20784	-0.096000	0.12329	-0.376000	0.06991	GAA		0.428	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	76	0	0	0	1	0	3	76				
WDPCP	51057	broad.mit.edu	37	2	63666932	63666932	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr2:63666932C>T	ENST00000272321.7	-	7	985	c.458G>A	c.(457-459)aGa>aAa	p.R153K	WDPCP_ENST00000398544.3_5'Flank|WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.R153K	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	153					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CACCAGGCTTCTGTCAATCAC	0.498																																						ENST00000409562.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(457-459)aGa>aAa		WD repeat containing planar cell polarity effector							137.0	135.0	135.0					2																	63666932		1957	4163	6120	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63666932C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.458G>A	2.37:g.63666932C>T	ENSP00000272321:p.Arg153Lys		Somatic				WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000272321.7_Missense_Mutation_p.R153K|WDPCP_ENST00000409835.1_5'UTR	p.R153K			WXS	Illumina GAIIx	Phase_I	O95876	FRITZ_HUMAN			7	704	-			153					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.458G>A	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093758	0.20471	.	.	ENSG00000143951	ENST00000272321;ENST00000409562	T;T	0.37752	1.18;1.18	5.48	4.6	0.57074	.	0.116345	0.53938	N	0.000056	T	0.24160	0.0585	L	0.27975	0.815	0.45995	D	0.998802	B;B	0.26002	0.037;0.139	B;B	0.28849	0.024;0.095	T	0.04781	-1.0927	10	0.02654	T	1	-6.0633	14.121	0.65186	0.0:0.9277:0.0:0.0723	.	153;153	O95876-2;O95876	.;FRITZ_HUMAN	K	153	ENSP00000272321:R153K;ENSP00000387222:R153K	ENSP00000272321:R153K	R	-	2	0	WDPCP	63520436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.965000	0.70387	1.308000	0.44962	0.655000	0.94253	AGA		0.498	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		5	238	0	0	0	1	0	5	238				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			2679							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	17	0	0	0	1	0	3	17				
VPS13D	55187	broad.mit.edu	37	1	12381877	12381877	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:12381877C>T	ENST00000358136.3	+	33	7690	c.7560C>T	c.(7558-7560)tgC>tgT	p.C2520C	VPS13D_ENST00000356315.4_Silent_p.C2520C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTTTCATGCCGACTAGGGA	0.408																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7558-7560)tgC>tgT		vacuolar protein sorting 13 homolog D (S. cerevisiae)							105.0	99.0	101.0					1																	12381877		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12381877C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7560C>T	1.37:g.12381877C>T			Somatic				VPS13D_ENST00000356315.4_Silent_p.C2520C	p.C2520C	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	33	7690	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2520						Silent	SNP	ENST00000358136.3	37	c.7560C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	6.298	0.423130	0.11928	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.14	3.2	0.36748	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52056	-0.8626	4	.	.	.	.	8.4882	0.33084	0.0:0.6124:0.0:0.3876	.	.	.	.	V	1343	.	.	A	+	2	0	VPS13D	12304464	0.999000	0.42202	1.000000	0.80357	0.689000	0.40095	0.616000	0.24344	0.616000	0.30141	-0.339000	0.08088	GCC		0.408	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		4	204	0	0	0	1	0	4	204				
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr10:12160774G>A	ENST00000263035.4	+	15	2491	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	810					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G810D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483																																						ENST00000263035.4																			1	Substitution - Missense(1)	p.G810D(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2428-2430)gGc>gAc		dehydrogenase E1 and transketolase domain containing 1							148.0	160.0	156.0					10																	12160774		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160774G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2429G>A	10.37:g.12160774G>A	ENSP00000263035:p.Gly810Asp		Somatic					p.G810D	NM_018706.5	NP_061176.3	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2491	+		Renal(717;0.228)	810					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2429G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644508	0.67358	.	.	ENSG00000181192	ENST00000263035	T	0.27890	1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85790	0.1367	10	0.87932	D	0	-8.3847	18.7995	0.92010	0.0:0.0:1.0:0.0	.	810	Q96HY7	DHTK1_HUMAN	D	810	ENSP00000263035:G810D	ENSP00000263035:G810D	G	+	2	0	DHTKD1	12200780	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	9.411000	0.97342	2.516000	0.84829	0.448000	0.29417	GGC		0.483	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	465	0	0	0	1	0	5	465				
PCDHB4	56131	broad.mit.edu	37	5	140501914	140501914	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr5:140501914C>T	ENST00000194152.1	+	1	334	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGAAATGCCGGTGCAATT	0.423																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(334-336)Ccg>Tcg									49.0	54.0	53.0					5																	140501914		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501914C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.334C>T	5.37:g.140501914C>T	ENSP00000194152:p.Pro112Ser		Somatic					p.P112S	NM_018938.2	NP_061761.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	334	+			112			Cadherin 1.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.334C>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075004	0.76415	.	.	ENSG00000081818	ENST00000194152	T	0.53423	0.62	4.66	4.66	0.58398	.	.	.	.	.	T	0.74619	0.3740	M	0.90425	3.115	0.58432	D	0.999994	D	0.89917	1.0	D	0.77004	0.989	T	0.80683	-0.1273	9	0.66056	D	0.02	.	17.7061	0.88310	0.0:1.0:0.0:0.0	.	112	Q9Y5E5	PCDB4_HUMAN	S	112	ENSP00000194152:P112S	ENSP00000194152:P112S	P	+	1	0	PCDHB4	140482098	1.000000	0.71417	0.712000	0.30502	0.940000	0.58332	7.038000	0.76537	2.570000	0.86706	0.655000	0.94253	CCG		0.423	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		4	96	0	0	0	1	0	4	96				
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363																																						ENST00000259569.5																			4	Substitution - Missense(4)	p.I984L(4)	lung(2)|endometrium(1)|kidney(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2950-2952)Ata>Cta		RAN binding protein 6							110.0	103.0	106.0					9																	6012658		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012658T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2950A>C	9.37:g.6012658T>G	ENSP00000259569:p.Ile984Leu		Somatic					p.I984L	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	WXS	Illumina GAIIx	Phase_I	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2960	-		Acute lymphoblastic leukemia(23;0.158)	984					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2950A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451466	0.26074	.	.	ENSG00000137040	ENST00000259569	T	0.08807	3.05	4.79	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.121890	0.53938	D	0.000050	T	0.03263	0.0095	N	0.11341	0.13	0.36993	D	0.894861	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.16722	0.016;0.011;0.016	T	0.36648	-0.9739	10	0.06891	T	0.86	-4.4735	5.2001	0.15258	0.0:0.4849:0.0:0.5151	.	151;572;984	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	984	ENSP00000259569:I984L	ENSP00000259569:I984L	I	-	1	0	RANBP6	6002658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.090000	0.50191	0.682000	0.31407	0.533000	0.62120	ATA		0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		5	241	0	0	0	1	0	5	241				
LCE1B	353132	broad.mit.edu	37	1	152785009	152785009	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:152785009C>T	ENST00000360090.3	+	1	563	c.87C>T	c.(85-87)tgC>tgT	p.C29C		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	29	Pro-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTAGATGCCCCCCAAAGT	0.632																																						ENST00000360090.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18						c.(85-87)tgC>tgT		late cornified envelope 1B							96.0	99.0	98.0					1																	152785009		2203	4300	6503	SO:0001819	synonymous_variant	353132				keratinization			g.chr1:152785009C>T	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.87C>T	1.37:g.152785009C>T			Somatic					p.C29C	NM_178349.1	NP_848126.1	WXS	Illumina GAIIx	Phase_I	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	563	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		29			Pro-rich.		A4IF40	Silent	SNP	ENST00000360090.3	37	c.87C>T	CCDS1027.1																																																																																				0.632	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		4	146	0	0	0	1	0	4	146				
WDR33	55339	broad.mit.edu	37	2	128471384	128471384	+	Silent	SNP	G	G	A	rs200529447		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr2:128471384G>A	ENST00000322313.4	-	18	3239	c.3081C>T	c.(3079-3081)caC>caT	p.H1027H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1027					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CACGTAACCGGTGGCCAAAGC	0.607																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3079-3081)caC>caT		WD repeat domain 33							142.0	146.0	145.0					2																	128471384		2203	4300	6503	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471384G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3081C>T	2.37:g.128471384G>A			Somatic					p.H1027H	NM_018383.4	NP_060853.3	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3239	-	Colorectal(110;0.1)		1027					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.3081C>T	CCDS2150.1																																																																																				0.607	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		6	258	0	0	0	1	0	6	258				
FYN	2534	broad.mit.edu	37	6	112015631	112015631	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr6:112015631G>A	ENST00000354650.3	-	12	1826	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	FYN_ENST00000229470.5_Missense_Mutation_p.A355V|FYN_ENST00000476769.2_5'Flank|FYN_ENST00000368682.3_Missense_Mutation_p.A404V|FYN_ENST00000368678.4_Missense_Mutation_p.A404V|FYN_ENST00000356013.2_Missense_Mutation_p.A352V|FYN_ENST00000368667.2_Missense_Mutation_p.A407V|FYN_ENST00000538466.1_Missense_Mutation_p.A404V|FYN_ENST00000229471.4_Missense_Mutation_p.A352V	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCCGAAGTCAGCAATCTTGCA	0.468																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1219-1221)gCt>gTt		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						262.0	220.0	234.0					6																	112015631		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112015631G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1220C>T	6.37:g.112015631G>A	ENSP00000346671:p.Ala407Val		Somatic				FYN_ENST00000538466.1_Missense_Mutation_p.A404V|FYN_ENST00000229470.5_Missense_Mutation_p.A355V|FYN_ENST00000229471.4_Missense_Mutation_p.A352V|FYN_ENST00000356013.2_Missense_Mutation_p.A352V|FYN_ENST00000368678.4_Missense_Mutation_p.A404V|FYN_ENST00000368682.3_Missense_Mutation_p.A404V|FYN_ENST00000368667.2_Missense_Mutation_p.A407V	p.A407V	NM_002037.5	NP_002028.1	WXS	Illumina GAIIx	Phase_I	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	12	1826	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	407			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.1220C>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319146	0.95682	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90683	0.7077	L	0.58969	1.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;0.992;1.0	D	0.90477	0.4457	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	355;407;352;404	B3KPS6;P06241;P06241-3;E1P556	.;FYN_HUMAN;.;.	V	404;407;352;407;404;355;352;404;355	ENSP00000357671:A404V;ENSP00000346671:A407V;ENSP00000229471:A352V;ENSP00000357656:A407V;ENSP00000357667:A404V;ENSP00000229470:A355V;ENSP00000348295:A352V;ENSP00000440646:A404V	ENSP00000229470:A355V	A	-	2	0	FYN	112122324	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GCT		0.468	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			4	321	0	0	0	1	0	4	321				
PRICKLE1	144165	broad.mit.edu	37	12	42853645	42853645	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr12:42853645T>C	ENST00000455697.1	-	8	2747	c.2462A>G	c.(2461-2463)aAg>aGg	p.K821R	PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	821	Poly-Lys.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTGTGTCCCTTTTTCTTCTT	0.403																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2461-2463)aAg>aGg		prickle homolog 1 (Drosophila)							187.0	178.0	181.0					12																	42853645		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42853645T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2462A>G	12.37:g.42853645T>C	ENSP00000401060:p.Lys821Arg		Somatic				PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|RP11-328C8.4_ENST00000547824.1_RNA	p.K821R	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	WXS	Illumina GAIIx	Phase_I	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2747	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		821			Poly-Lys.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.2462A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001248	0.35320	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.75	3.6	0.41247	.	0.088670	0.85682	N	0.000000	T	0.39200	0.1069	N	0.08118	0	0.39944	D	0.974441	B	0.16603	0.018	B	0.12156	0.007	T	0.17961	-1.0352	10	0.08381	T	0.77	-23.9075	8.2953	0.31982	0.0:0.1764:0.0:0.8236	.	821	Q96MT3	PRIC1_HUMAN	R	821	ENSP00000401060:K821R;ENSP00000398947:K821R;ENSP00000448359:K821R;ENSP00000345064:K821R;ENSP00000449819:K821R	ENSP00000345064:K821R	K	-	2	0	PRICKLE1	41139912	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	1.274000	0.33132	0.956000	0.37904	0.533000	0.62120	AAG		0.403	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			5	490	0	0	0	1	0	5	490				
C10orf120	399814	broad.mit.edu	37	10	124457994	124457994	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr10:124457994C>T	ENST00000329446.4	-	3	294	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	88										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGTGTGAATGCCACCTAGACG	0.488																																						ENST00000329446.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21						c.(262-264)gGc>gAc		chromosome 10 open reading frame 120							186.0	195.0	192.0					10																	124457994		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457994C>T		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.263G>A	10.37:g.124457994C>T	ENSP00000331012:p.Gly88Asp		Somatic					p.G88D	NM_001010912.1	NP_001010912.1	WXS	Illumina GAIIx	Phase_I	Q5SQS8	CJ120_HUMAN			3	294	-		all_neural(114;0.169)|Glioma(114;0.222)	88					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.263G>A	CCDS31302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.942053|2.942053	0.53079|0.53079	.|.	.|.	ENSG00000183559|ENSG00000183559	ENST00000432000|ENST00000329446	.|T	.|0.75154	.|-0.91	4.82|4.82	3.92|3.92	0.45320|0.45320	.|.	.|0.000000	.|0.50627	.|D	.|0.000112	T|T	0.75781|0.75781	0.3896|0.3896	M|M	0.76574|0.76574	2.34|2.34	0.36629|0.36629	D|D	0.87618|0.87618	.|P	.|0.46706	.|0.883	.|P	.|0.46543	.|0.52	T|T	0.81820|0.81820	-0.0757|-0.0757	5|10	.|0.87932	.|D	.|0	-23.8618|-23.8618	9.1296|9.1296	0.36837|0.36837	0.0:0.9011:0.0:0.0989|0.0:0.9011:0.0:0.0989	.|.	.|88	.|Q5SQS8	.|CJ120_HUMAN	T|D	81|88	.|ENSP00000331012:G88D	.|ENSP00000331012:G88D	A|G	-|-	1|2	0|0	C10orf120|C10orf120	124447984|124447984	0.835000|0.835000	0.29415|0.29415	0.712000|0.712000	0.30502|0.30502	0.603000|0.603000	0.37013|0.37013	3.084000|3.084000	0.50143|0.50143	1.388000|1.388000	0.46506|0.46506	-0.199000|-0.199000	0.12753|0.12753	GCA|GGC		0.488	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		5	438	0	0	0	1	0	5	438				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>A																													22.37:g.23006960C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	7	1	0	0.115264	1	0.118219	3	7				
HERC2	8924	broad.mit.edu	37	15	28386944	28386944	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr15:28386944C>A	ENST00000261609.7	-	77	11857	c.11749G>T	c.(11749-11751)Gtt>Ttt	p.V3917F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATGCAGAACATCCATGTTT	0.338																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11749-11751)Gtt>Ttt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							179.0	176.0	177.0					15																	28386944		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386944C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11749G>T	15.37:g.28386944C>A	ENSP00000261609:p.Val3917Phe		Somatic					p.V3917F	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	77	11857	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3917						Missense_Mutation	SNP	ENST00000261609.7	37	c.11749G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287878	0.23478	.	.	ENSG00000128731	ENST00000261609	T	0.38560	1.13	5.9	4.99	0.66335	.	0.257856	0.39475	N	0.001358	T	0.21509	0.0518	N	0.08118	0	0.35827	D	0.82505	B	0.25609	0.13	B	0.24541	0.054	T	0.22103	-1.0226	10	0.13470	T	0.59	.	11.2677	0.49120	0.1272:0.8064:0.0:0.0664	.	3917	O95714	HERC2_HUMAN	F	3917	ENSP00000261609:V3917F	ENSP00000261609:V3917F	V	-	1	0	HERC2	26060539	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	1.675000	0.37555	1.518000	0.48934	0.655000	0.94253	GTT		0.338	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	478	1	0	8.12818e-05	1	8.67006e-05	5	478				
ZNF70	7621	broad.mit.edu	37	22	24087079	24087079	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr22:24087079G>A	ENST00000341976.3	-	2	709	c.249C>T	c.(247-249)acC>acT	p.T83T		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	83					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(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CCTGGGGTCTGGTTCCTGGGG	0.498																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(247-249)acC>acT		zinc finger protein 70							143.0	138.0	140.0					22																	24087079		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087079G>A	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.249C>T	22.37:g.24087079G>A			Somatic					p.T83T	NM_021916.2	NP_068735.1	WXS	Illumina GAIIx	Phase_I	Q9UC06	ZNF70_HUMAN			2	709	-			83						Silent	SNP	ENST00000341976.3	37	c.249C>T	CCDS13812.1																																																																																				0.498	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		8	238	0	0	0	1	0	8	238				
C10orf54	64115	broad.mit.edu	37	10	73511020	73511020	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr10:73511020T>C	ENST00000394957.3	-	7	984	c.926A>G	c.(925-927)gAg>gGg	p.E309G	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	309					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTAGATGACCTCAAAGTTTGG	0.622																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(925-927)gAg>gGg		chromosome 10 open reading frame 54							67.0	69.0	68.0					10																	73511020		2203	4300	6503	SO:0001583	missense	64115					integral to membrane	receptor activity	g.chr10:73511020T>C	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.926A>G	10.37:g.73511020T>C	ENSP00000378409:p.Glu309Gly		Somatic				CDH23_ENST00000224721.6_Intron	p.E309G	NM_022153.1	NP_071436.1	WXS	Illumina GAIIx	Phase_I	Q9H7M9	GI24_HUMAN			7	984	-			309					A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Missense_Mutation	SNP	ENST00000394957.3	37	c.926A>G	CCDS31218.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766068	0.69878	.	.	ENSG00000107738	ENST00000394957;ENST00000263569	T	0.49432	0.78	5.94	4.75	0.60458	.	0.462385	0.23589	N	0.046563	T	0.42268	0.1195	L	0.46157	1.445	0.26446	N	0.975684	P;P	0.46395	0.877;0.598	B;B	0.43360	0.417;0.188	T	0.40869	-0.9540	10	0.45353	T	0.12	.	9.8215	0.40885	0.153:0.0:0.0:0.847	.	309;309	A4ZYV1;Q9H7M9	.;GI24_HUMAN	G	309;305	ENSP00000378409:E309G	ENSP00000263569:E305G	E	-	2	0	C10orf54	73181026	0.988000	0.35896	0.787000	0.31911	0.730000	0.41778	2.968000	0.49224	2.279000	0.76181	0.459000	0.35465	GAG		0.622	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		2	8	0	0	0	1	0	2	8				
ZNF28	7576	broad.mit.edu	37	19	53304169	53304169	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:53304169C>T	ENST00000457749.2	-	4	1048	c.929G>A	c.(928-930)cGc>cAc	p.R310H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R257H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R257H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R257H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	310					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)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.383																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(769-771)cGc>cAc		zinc finger protein 28							134.0	133.0	133.0					19																	53304169		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304169C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.929G>A	19.37:g.53304169C>T	ENSP00000397693:p.Arg310His		Somatic				ZNF28_ENST00000414252.2_Missense_Mutation_p.R257H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R257H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R310H	p.R257H			WXS	Illumina GAIIx	Phase_I	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1663	-			310					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.770G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	4.654	0.121552	0.08881	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	1.2	-2.4	0.06583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.56280	1.765	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41360	-0.9513	9	0.26408	T	0.33	.	2.5864	0.04831	0.2165:0.35:0.0:0.4335	.	310	P17035	ZNF28_HUMAN	H	257;310;257;257;257	ENSP00000412143:R257H;ENSP00000397693:R310H;ENSP00000353410:R257H;ENSP00000444965:R257H;ENSP00000375661:R257H	ENSP00000353410:R257H	R	-	2	0	ZNF28	57995981	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-4.691000	0.00198	-1.155000	0.02822	0.186000	0.17326	CGC		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		6	376	0	0	0	1	0	6	376				
TRIM23	373	broad.mit.edu	37	5	64920038	64920038	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr5:64920038C>T	ENST00000231524.9	-	1	435	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	TRAPPC13_ENST00000545191.1_5'Flank|TRAPPC13_ENST00000505553.1_5'Flank|TRAPPC13_ENST00000399438.3_5'Flank|TRAPPC13_ENST00000438419.2_5'Flank|TRIM23_ENST00000274327.7_Missense_Mutation_p.G22R|TRAPPC13_ENST00000231526.4_5'Flank|CTC-534A2.2_ENST00000510585.2_5'Flank|TRIM23_ENST00000381018.3_Missense_Mutation_p.G22R	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	22					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACAGCTGTCCCCCGGCTGCCC	0.632																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(64-66)Ggg>Agg		tripartite motif containing 23							59.0	53.0	55.0					5																	64920038		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64920038C>T	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.64G>A	5.37:g.64920038C>T	ENSP00000231524:p.Gly22Arg		Somatic				TRIM23_ENST00000381018.3_Missense_Mutation_p.G22R|TRIM23_ENST00000274327.7_Missense_Mutation_p.G22R	p.G22R	NM_001656.3	NP_001647.1	WXS	Illumina GAIIx	Phase_I	P36406	TRI23_HUMAN		Lung(70;0.00473)	1	435	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	22					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.64G>A	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290697	0.59976	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327;ENST00000513794	T;T;T	0.74106	-0.73;-0.73;-0.81	5.55	5.55	0.83447	.	0.057044	0.64402	D	0.000001	T	0.71796	0.3382	L	0.39898	1.24	0.44417	D	0.997336	P;P;P	0.44946	0.468;0.846;0.846	B;P;B	0.47470	0.24;0.548;0.42	T	0.73824	-0.3861	10	0.66056	D	0.02	.	12.1651	0.54125	0.0:0.9225:0.0:0.0775	.	22;22;22	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	R	22	ENSP00000231524:G22R;ENSP00000370406:G22R;ENSP00000274327:G22R	ENSP00000231524:G22R	G	-	1	0	TRIM23	64955794	0.985000	0.35326	0.968000	0.41197	0.902000	0.53008	2.674000	0.46867	2.885000	0.99019	0.655000	0.94253	GGG		0.632	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		4	22	0	0	0	1	0	4	22				
TMED6	146456	broad.mit.edu	37	16	69377539	69377539	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr16:69377539C>T	ENST00000288025.3	-	4	549	c.494G>A	c.(493-495)gGc>gAc	p.G165D	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	165					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						CTTTTGTGTGCCGTCCTATGA	0.428																																						ENST00000288025.3																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						c.(493-495)gGc>gAc		transmembrane emp24 protein transport domain containing 6							103.0	100.0	101.0					16																	69377539		2198	4300	6498	SO:0001583	missense	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69377539C>T	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.494G>A	16.37:g.69377539C>T	ENSP00000288025:p.Gly165Asp		Somatic				RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	p.G165D	NM_144676.3	NP_653277.2	WXS	Illumina GAIIx	Phase_I	Q8WW62	TMED6_HUMAN			4	549	-			165					Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	c.494G>A	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858630	0.32791	.	.	ENSG00000157315	ENST00000288025	T	0.16324	2.35	5.71	5.71	0.89125	GOLD (1);	0.272209	0.47455	D	0.000224	T	0.12305	0.0299	N	0.08118	0	0.26769	N	0.969839	B	0.12013	0.005	B	0.14023	0.01	T	0.23476	-1.0187	10	0.54805	T	0.06	-9.8117	19.8647	0.96799	0.0:1.0:0.0:0.0	.	165	Q8WW62	TMED6_HUMAN	D	165	ENSP00000288025:G165D	ENSP00000288025:G165D	G	-	2	0	TMED6	67935040	1.000000	0.71417	0.983000	0.44433	0.059000	0.15707	3.232000	0.51302	2.684000	0.91462	0.561000	0.74099	GGC		0.428	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		4	179	0	0	0	1	0	4	179				
ZNF479	90827	broad.mit.edu	37	7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATGTGTAGGGTCT	0.428																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1396-1398)aCa>aAa		zinc finger protein 479							61.0	62.0	61.0					7																	57187725		2091	4234	6325	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187725G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1397C>A	7.37:g.57187725G>T	ENSP00000333776:p.Thr466Lys		Somatic					p.T466K	NM_033273.1	NP_150376.1	WXS	Illumina GAIIx	Phase_I	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1667	-			466						Missense_Mutation	SNP	ENST00000331162.4	37	c.1397C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.806322	0.00074	.	.	ENSG00000185177	ENST00000331162	T	0.20738	2.05	0.955	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35699	-0.9778	9	0.02654	T	1	.	5.6195	0.17450	0.0:0.0:0.5844:0.4156	.	466	Q96JC4	ZN479_HUMAN	K	466	ENSP00000333776:T466K	ENSP00000333776:T466K	T	-	2	0	ZNF479	57191667	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.024000	0.03603	-0.948000	0.03668	-0.940000	0.02684	ACA		0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		4	299	1	0	0.150653	1	0.15256	4	299				
SEZ6L	23544	broad.mit.edu	37	22	26709759	26709759	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr22:26709759G>T	ENST00000248933.6	+	9	2001	c.1906G>T	c.(1906-1908)Gct>Tct	p.A636S	SEZ6L_ENST00000403121.1_Missense_Mutation_p.A409S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A636S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A636S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A409S|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A636S|SEZ6L_ENST00000529632.2_Missense_Mutation_p.A636S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	636	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCTGCTGTGGCTGGGGTGGT	0.502																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1906-1908)Gct>Tct		seizure related 6 homolog (mouse)-like							146.0	135.0	139.0					22																	26709759		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26709759G>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1906G>T	22.37:g.26709759G>T	ENSP00000248933:p.Ala636Ser		Somatic				SEZ6L_ENST00000360929.3_Missense_Mutation_p.A636S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A636S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A409S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A636S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A636S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.A409S	p.A636S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	WXS	Illumina GAIIx	Phase_I	Q9BYH1	SE6L1_HUMAN			9	2102	+			636			CUB 3.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1906G>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709257	0.48517	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	4.78	4.78	0.61160	CUB (5);	0.000000	0.56097	D	0.000031	T	0.13030	0.0316	N	0.04148	-0.265	0.80722	D	1	P;B;B;P;B;B;B	0.39883	0.693;0.197;0.304;0.545;0.36;0.197;0.197	P;B;B;B;B;B;B	0.44990	0.466;0.101;0.101;0.209;0.161;0.101;0.101	T	0.28427	-1.0044	10	0.44086	T	0.13	.	17.0225	0.86437	0.0:0.0:1.0:0.0	.	636;636;409;636;636;636;636	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	S	636;636;636;636;636;409;409	ENSP00000384772:A636S;ENSP00000437037:A636S;ENSP00000354185:A636S;ENSP00000248933:A636S;ENSP00000342661:A636S;ENSP00000384838:A409S;ENSP00000384733:A409S	ENSP00000248933:A636S	A	+	1	0	SEZ6L	25039759	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.040000	0.64191	2.492000	0.84095	0.655000	0.94253	GCT		0.502	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			7	262	1	0	0.0293803	1	0.0309267	7	262				
IRX5	10265	broad.mit.edu	37	16	54966805	54966805	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr16:54966805C>T	ENST00000394636.4	+	2	982	c.645C>T	c.(643-645)ggC>ggT	p.G215G	IRX5_ENST00000560154.1_Intron|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Silent_p.G215G|IRX5_ENST00000558597.1_Silent_p.G149G			P78411	IRX5_HUMAN	iroquois homeobox 5	215					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACCCCGAGGGCCCCGAAGCAG	0.647																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(643-645)ggC>ggT		iroquois homeobox 5							63.0	79.0	73.0					16																	54966805		2198	4300	6498	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966805C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.645C>T	16.37:g.54966805C>T			Somatic				IRX5_ENST00000320990.5_Silent_p.G215G|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.G149G	p.G215G			WXS	Illumina GAIIx	Phase_I	P78411	IRX5_HUMAN			2	982	+			215					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.645C>T	CCDS10751.1																																																																																				0.647	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			6	150	0	0	0	1	0	6	150				
SUV420H1	51111	broad.mit.edu	37	11	67926348	67926348	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:67926348G>A	ENST00000304363.4	-	11	1818	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	489					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.P489S(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTTTAATGGGCAAATTTTTA	0.458																																						ENST00000304363.4																			1	Substitution - Missense(1)	p.P489S(1)	kidney(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(1465-1467)Ccc>Tcc		suppressor of variegation 4-20 homolog 1 (Drosophila)							65.0	70.0	68.0					11																	67926348		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926348G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1465C>T	11.37:g.67926348G>A	ENSP00000305899:p.Pro489Ser		Somatic					p.P489S	NM_017635.3	NP_060105.3	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			11	1818	-			489					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1465C>T	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449887	0.26074	.	.	ENSG00000110066	ENST00000304363	T	0.47177	0.85	5.2	3.36	0.38483	.	0.160727	0.48286	D	0.000200	T	0.47930	0.1472	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.35101	-0.9802	10	0.25751	T	0.34	-8.1406	7.2446	0.26115	0.147:0.1391:0.7139:0.0	.	489	Q4FZB7	SV421_HUMAN	S	489	ENSP00000305899:P489S	ENSP00000305899:P489S	P	-	1	0	SUV420H1	67682924	1.000000	0.71417	0.931000	0.37212	0.022000	0.10575	3.236000	0.51336	0.791000	0.33826	-0.229000	0.12294	CCC		0.458	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		4	168	0	0	0	1	0	4	168				
WHSC1	7468	broad.mit.edu	37	4	1954983	1954983	+	Intron	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr4:1954983C>T	ENST00000382895.3	+	14	2568				WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000508803.1_Intron|WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382888.3_Silent_p.G38G	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1						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)		ATTTTAGTGGCTCAGAACTGC	0.448			T	IGH@	MM																																	ENST00000382888.3				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.(112-114)ggC>ggT		Wolf-Hirschhorn syndrome candidate 1																																				SO:0001627	intron_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.chr4:1954983C>T	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.2138-68C>T	4.37:g.1954983C>T			Somatic				WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000508803.1_Intron|WHSC1_ENST00000382895.3_Intron	p.G38G			WXS	Illumina GAIIx	Phase_I	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	632	+		all_epithelial(65;1.34e-05)	1258					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.114C>T	CCDS33940.1																																																																																				0.448	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		6	33	0	0	0	1	0	6	33				
PPOX	5498	broad.mit.edu	37	1	161140729	161140729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:161140729G>A	ENST00000367999.4	+	12	1547	c.1281G>A	c.(1279-1281)tgG>tgA	p.W427*	PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Nonsense_Mutation_p.W135*|PPOX_ENST00000352210.5_Nonsense_Mutation_p.W427*|B4GALT3_ENST00000470882.1_5'Flank	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	427					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.W427*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TAGGTCACTGGCAAAAACTAG	0.478																																						ENST00000367999.4																			1	Substitution - Nonsense(1)	p.W427*(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	GRCh37	CM992420	PPOX	M		c.(1279-1281)tgG>tgA		protoporphyrinogen oxidase							124.0	127.0	126.0					1																	161140729		2203	4300	6503	SO:0001587	stop_gained	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140729G>A	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1281G>A	1.37:g.161140729G>A	ENSP00000356978:p.Trp427*		Somatic				PPOX_ENST00000495483.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Nonsense_Mutation_p.W135*|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Nonsense_Mutation_p.W427*	p.W427*	NM_001122764.1	NP_001116236.1	WXS	Illumina GAIIx	Phase_I	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		12	1547	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		427					D3DVG0|Q5VTW8	Nonsense_Mutation	SNP	ENST00000367999.4	37	c.1281G>A	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.724771|5.724771	0.96847|0.96847	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000544598;ENST00000435935	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.186752	.|0.49916	.|D	.|0.000129	T|.	0.67468|.	0.2896|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63457|.	-0.6633|.	4|.	.|0.36615	.|T	.|0.2	-12.9193|-12.9193	18.7782|18.7782	0.91920|0.91920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	180;150|427;427;135;394	.|.	.|ENSP00000343943:W427X	G|W	+|+	2|3	0|0	PPOX|PPOX	159407353|159407353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.632000|3.632000	0.54287|0.54287	2.731000|2.731000	0.93534|0.93534	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.478	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		4	228	0	0	0	1	0	4	228				
RFX6	222546	broad.mit.edu	37	6	117248669	117248669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr6:117248669C>T	ENST00000332958.2	+	17	2381	c.2365C>T	c.(2365-2367)Caa>Taa	p.Q789*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	789					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGCCAGCTGCCAAGGAGCAAC	0.418																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(2365-2367)Caa>Taa		regulatory factor X, 6							37.0	38.0	37.0					6																	117248669		2203	4299	6502	SO:0001587	stop_gained	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117248669C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2365C>T	6.37:g.117248669C>T	ENSP00000332208:p.Gln789*		Somatic					p.Q789*	NM_173560.3	NP_775831.2	WXS	Illumina GAIIx	Phase_I	Q8HWS3	RFX6_HUMAN			17	2381	+			789					Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	c.2365C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675308	0.96764	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.17	4.28	0.50868	.	0.528191	0.20395	N	0.093173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-5.8858	14.0878	0.64971	0.0:0.8497:0.1503:0.0	.	.	.	.	X	789	.	ENSP00000332208:Q789X	Q	+	1	0	RFX6	117355362	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.910000	0.48766	1.370000	0.46153	0.561000	0.74099	CAA		0.418	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		9	71	0	0	0	1	0	9	71				
TRIM6	117854	broad.mit.edu	37	11	5626669	5626669	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:5626669G>C	ENST00000278302.5	+	4	762	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E236Q|TRIM6_ENST00000515022.1_Missense_Mutation_p.E33Q|TRIM6_ENST00000445329.1_Missense_Mutation_p.E33Q|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Missense_Mutation_p.E33Q|TRIM6_ENST00000380097.3_Missense_Mutation_p.E236Q|TRIM6_ENST00000380107.1_Missense_Mutation_p.E182Q|TRIM6_ENST00000506134.1_Missense_Mutation_p.E33Q	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	208					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTGGAACAGGAAGAGAAGAA	0.512											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(706-708)Gaa>Caa		tripartite motif containing 6							89.0	90.0	90.0					11																	5626669		2201	4297	6498	SO:0001583	missense	117854							g.chr11:5626669G>C	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.622G>C	11.37:g.5626669G>C	ENSP00000278302:p.Glu208Gln		Somatic	OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	627	TRIM6_ENST00000507320.1_Missense_Mutation_p.E33Q|TRIM6_ENST00000515022.1_Missense_Mutation_p.E33Q|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E236Q|TRIM6_ENST00000506134.1_Missense_Mutation_p.E33Q|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000278302.5_Missense_Mutation_p.E208Q|TRIM6_ENST00000380107.1_Missense_Mutation_p.E182Q|TRIM6_ENST00000445329.1_Missense_Mutation_p.E33Q|HBG2_ENST00000380259.2_Intron	p.E236Q	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1	WXS	Illumina GAIIx	Phase_I				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	948	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.706G>C	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513086	0.64522	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92	4.87	3.95	0.45737	.	.	.	.	.	T	0.40347	0.1113	M	0.91561	3.22	0.23043	N	0.99839	D;D;P;D;D	0.89917	0.999;1.0;0.663;1.0;0.999	D;D;B;D;D	0.85130	0.994;0.987;0.141;0.997;0.994	T	0.30679	-0.9970	9	0.72032	D	0.01	.	11.8685	0.52507	0.0:0.1769:0.8231:0.0	.	33;182;236;236;208	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	Q	208;33;33;182;236;33;115;33;33;236;236	ENSP00000278302:E208Q;ENSP00000414108:E33Q;ENSP00000427704:E33Q;ENSP00000369450:E182Q;ENSP00000369440:E236Q;ENSP00000399215:E33Q;ENSP00000421802:E33Q;ENSP00000421079:E33Q;ENSP00000346916:E236Q	ENSP00000278302:E208Q	E	+	1	0	TRIM34;TRIM6;TRIM6-TRIM34	5583245	0.979000	0.34478	0.998000	0.56505	0.711000	0.40976	1.666000	0.37460	1.362000	0.46000	-0.165000	0.13383	GAA		0.512	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		14	131	0	0	0	1	0	14	131				
SPAG17	200162	broad.mit.edu	37	1	118624114	118624114	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:118624114G>A	ENST00000336338.5	-	14	1979	c.1914C>T	c.(1912-1914)aaC>aaT	p.N638N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	638						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATCTGGCAGGGTTGTCCCACG	0.448																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1912-1914)aaC>aaT		sperm associated antigen 17							192.0	180.0	184.0					1																	118624114		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118624114G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1914C>T	1.37:g.118624114G>A			Somatic					p.N638N	NM_206996.2	NP_996879.1	WXS	Illumina GAIIx	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	14	1979	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	638					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.1914C>T	CCDS899.1																																																																																				0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	225	0	0	0	1	0	12	225				
ATR	545	broad.mit.edu	37	3	142275326	142275326	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr3:142275326G>A	ENST00000350721.4	-	9	2098	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A	ATR_ENST00000383101.3_Silent_p.A595A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	659					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCTCTGCAGGGCCCAGTTGT	0.423								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1975-1977)gcC>gcT	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							96.0	101.0	100.0					3																	142275326		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142275326G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1977C>T	3.37:g.142275326G>A			Somatic				ATR_ENST00000383101.3_Silent_p.A595A	p.A659A	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			9	2098	-			659					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.1977C>T	CCDS3124.1																																																																																				0.423	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		5	330	0	0	0	1	0	5	330				
SLC6A4	6532	broad.mit.edu	37	17	28545934	28545934	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr17:28545934G>A	ENST00000401766.2	-	3	871	c.359C>T	c.(358-360)cCc>cTc	p.P120L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.P120L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	120					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GATGGTGTAGGGGAGGAGGAA	0.512																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(358-360)cCc>cTc		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						111.0	104.0	106.0					17																	28545934		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28545934G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.359C>T	17.37:g.28545934G>A	ENSP00000385822:p.Pro120Leu		Somatic				SLC6A4_ENST00000261707.3_Missense_Mutation_p.P120L	p.P120L			WXS	Illumina GAIIx	Phase_I	P31645	SC6A4_HUMAN			3	871	-			120					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.359C>T	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364063	0.95877	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	D;D	0.86865	-2.18;-2.18	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95681	0.8732	10	0.87932	D	0	.	18.8371	0.92167	0.0:0.0:1.0:0.0	.	120	P31645	SC6A4_HUMAN	L	162;120;120	ENSP00000385822:P120L;ENSP00000261707:P120L	ENSP00000261707:P120L	P	-	2	0	SLC6A4	25570060	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.689000	0.91719	0.655000	0.94253	CCC		0.512	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		4	111	0	0	0	1	0	4	111				
RAG2	5897	broad.mit.edu	37	11	36614565	36614565	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:36614565C>T	ENST00000311485.3	-	2	1315	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000446510.2_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	385					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGCACTGAAACAAAATTCTTC	0.383									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(1153-1155)tGt>tAt		recombination activating gene 2							135.0	132.0	133.0					11																	36614565		2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614565C>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1154G>A	11.37:g.36614565C>T	ENSP00000308620:p.Cys385Tyr		Somatic					p.C385Y	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	WXS	Illumina GAIIx	Phase_I	P55895	RAG2_HUMAN			2	1315	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	385					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1154G>A	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528959	0.44969	.	.	ENSG00000175097	ENST00000311485	D	0.89123	-2.47	5.45	5.45	0.79879	.	0.193425	0.47093	D	0.000242	D	0.83589	0.5287	N	0.13352	0.335	0.31858	N	0.6213	P	0.51147	0.942	P	0.52646	0.705	T	0.81357	-0.0969	10	0.20519	T	0.43	-10.0296	10.3799	0.44106	0.1242:0.5888:0.287:0.0	.	385	P55895	RAG2_HUMAN	Y	385	ENSP00000308620:C385Y	ENSP00000308620:C385Y	C	-	2	0	RAG2	36571141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.297000	0.43593	2.715000	0.92844	0.650000	0.86243	TGT		0.383	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		7	249	0	0	0	1	0	7	249				
ZMYM2	7750	broad.mit.edu	37	13	20577188	20577188	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr13:20577188G>A	ENST00000382874.2	+	5	1236	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	ZMYM2_ENST00000382881.3_Missense_Mutation_p.G262E|ZMYM2_ENST00000382869.3_Missense_Mutation_p.G349E|ZMYM2_ENST00000382883.3_5'Flank|ZMYM2_ENST00000382871.2_Missense_Mutation_p.G349E	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAACGAAAAGGATCAGCTCAC	0.443																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1045-1047)gGa>gAa		zinc finger, MYM-type 2							96.0	92.0	93.0					13																	20577188		2203	4300	6503	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20577188G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1046G>A	13.37:g.20577188G>A	ENSP00000372327:p.Gly349Glu		Somatic				ZMYM2_ENST00000382871.2_Missense_Mutation_p.G349E|ZMYM2_ENST00000382881.3_Missense_Mutation_p.G262E|ZMYM2_ENST00000382874.2_Missense_Mutation_p.G349E	p.G349E	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	WXS	Illumina GAIIx	Phase_I	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	4	1297	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	349					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.1046G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735737	0.89482	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.79	4.79	0.61399	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83580	0.0117	10	0.62326	D	0.03	26.8	17.8387	0.88709	0.0:0.0:1.0:0.0	.	349;349;262	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	E	349;349;262;349;349	ENSP00000372322:G349E;ENSP00000372334:G262E;ENSP00000372327:G349E;ENSP00000372324:G349E	ENSP00000372322:G349E	G	+	2	0	ZMYM2	19475188	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.402000	0.97298	2.216000	0.71823	0.563000	0.77884	GGA		0.443	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		4	70	0	0	0	1	0	4	70				
EML1	2009	broad.mit.edu	37	14	100380607	100380607	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:100380607G>A	ENST00000262233.6	+	14	1725	c.1586G>A	c.(1585-1587)gGc>gAc	p.G529D	EML1_ENST00000334192.4_Missense_Mutation_p.G548D|EML1_ENST00000327921.9_Missense_Mutation_p.G517D	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	529	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GTCCTGCAGGGCACTCTGTCA	0.502																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1585-1587)gGc>gAc		echinoderm microtubule associated protein like 1							143.0	125.0	131.0					14																	100380607		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100380607G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1586G>A	14.37:g.100380607G>A	ENSP00000262233:p.Gly529Asp		Somatic				EML1_ENST00000327921.9_Missense_Mutation_p.G517D|EML1_ENST00000334192.4_Missense_Mutation_p.G548D	p.G529D	NM_004434.2	NP_004425.2	WXS	Illumina GAIIx	Phase_I	O00423	EMAL1_HUMAN			14	1725	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	529					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.1586G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246172	0.95272	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.30448	1.53;1.53;1.53	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;0.967;1.0	D;P;D	0.97110	1.0;0.769;1.0	T	0.66512	-0.5905	10	0.87932	D	0	-28.872	18.3908	0.90483	0.0:0.0:1.0:0.0	.	517;529;548	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	D	517;529;548;548	ENSP00000327384:G517D;ENSP00000262233:G529D;ENSP00000334314:G548D	ENSP00000262233:G529D	G	+	2	0	EML1	99450360	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.648000	0.98483	2.343000	0.79666	0.585000	0.79938	GGC		0.502	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		4	175	0	0	0	1	0	4	175				
GPR52	9293	broad.mit.edu	37	1	174417939	174417939	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr1:174417939C>T	ENST00000367685.2	+	1	728	c.690C>T	c.(688-690)tgC>tgT	p.C230C	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	230					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCAAAATTTGCCGTCAGCACA	0.463																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(688-690)tgC>tgT		G protein-coupled receptor 52							198.0	183.0	188.0					1																	174417939		2203	4300	6503	SO:0001819	synonymous_variant	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417939C>T	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.690C>T	1.37:g.174417939C>T			Somatic				RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	p.C230C	NM_005684.4	NP_005675.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T5	GPR52_HUMAN			1	728	+			230					O75654|Q4VBL6|Q6ISM0	Silent	SNP	ENST00000367685.2	37	c.690C>T	CCDS30941.1																																																																																				0.463	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		4	306	0	0	0	1	0	4	306				
SEL1L3	23231	broad.mit.edu	37	4	25780777	25780777	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr4:25780777C>T	ENST00000399878.3	-	16	2628	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	SEL1L3_ENST00000502949.1_Missense_Mutation_p.E683K|SEL1L3_ENST00000264868.5_Missense_Mutation_p.E801K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	836						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGGTCCCTTCCATGTGTCCA	0.468																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(2506-2508)Gaa>Aaa		sel-1 suppressor of lin-12-like 3 (C. elegans)							154.0	141.0	145.0					4																	25780777		1961	4154	6115	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25780777C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2506G>A	4.37:g.25780777C>T	ENSP00000382767:p.Glu836Lys		Somatic				SEL1L3_ENST00000264868.5_Missense_Mutation_p.E801K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.E683K	p.E836K	NM_015187.3	NP_056002.2	WXS	Illumina GAIIx	Phase_I	Q68CR1	SE1L3_HUMAN			16	2628	-			836					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2506G>A	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052123	0.75960	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000514321	T;T;T;T	0.52057	0.68;0.68;0.68;0.71	5.22	5.22	0.72569	Tetratricopeptide-like helical (1);	0.238594	0.42172	D	0.000741	T	0.35799	0.0944	L	0.29908	0.895	0.45097	D	0.998117	P;P	0.47409	0.895;0.73	B;B	0.38056	0.264;0.147	T	0.12993	-1.0526	10	0.19590	T	0.45	-20.3621	18.7819	0.91937	0.0:1.0:0.0:0.0	.	243;836	B4DTH5;Q68CR1	.;SE1L3_HUMAN	K	836;801;683;17	ENSP00000382767:E836K;ENSP00000264868:E801K;ENSP00000425438:E683K;ENSP00000424564:E17K	ENSP00000264868:E801K	E	-	1	0	SEL1L3	25389875	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.940000	0.70187	2.429000	0.82318	0.561000	0.74099	GAA		0.468	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		14	200	0	0	0	1	0	14	200				
ARPP21	10777	broad.mit.edu	37	3	35763134	35763134	+	Nonsense_Mutation	SNP	C	C	T	rs545003470		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr3:35763134C>T	ENST00000187397.4	+	14	1489	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R291*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R291*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R311*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R311*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	345	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCTGGGAGTCGACAGAGCAG	0.532																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1033-1035)Cga>Tga		cAMP-regulated phosphoprotein, 21kDa							60.0	56.0	57.0					3																	35763134		2203	4300	6503	SO:0001587	stop_gained	10777					cytoplasm	nucleic acid binding	g.chr3:35763134C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1033C>T	3.37:g.35763134C>T	ENSP00000187397:p.Arg345*		Somatic				ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R311*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R311*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R291*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R291*	p.R345*	NM_016300.4	NP_057384.2	WXS	Illumina GAIIx	Phase_I	Q9UBL0	ARP21_HUMAN			14	1489	+			345			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	37	c.1033C>T	CCDS2661.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.780295|7.780295	0.98486|0.98486	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	.|T	.|0.55760	.|0.5	5.75|5.75	3.84|3.84	0.44239|0.44239	.|.	0.057880|.	0.64402|.	D|.	0.000002|.	.|T	.|0.66005	.|0.2746	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77230	.|-0.2664	.|5	0.02654|0.72032	T|D	1|0.01	-18.381|-18.381	14.5868|14.5868	0.68331|0.68331	0.2659:0.7341:0.0:0.0|0.2659:0.7341:0.0:0.0	.|.	.|.	.|.	.|.	X|L	311;291;291;345;311|117	.|ENSP00000408271:S117L	ENSP00000187397:R345X|ENSP00000408271:S117L	R|S	+|+	1|2	2|0	ARPP21|ARPP21	35738138|35738138	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.930000|0.930000	0.56654|0.56654	4.836000|4.836000	0.62789|0.62789	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.532	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		4	45	0	0	0	1	0	4	45				
RYR1	6261	broad.mit.edu	37	19	38946385	38946385	+	Silent	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:38946385C>T	ENST00000359596.3	+	16	1785	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N	RYR1_ENST00000360985.3_Silent_p.N595N|RYR1_ENST00000355481.4_Silent_p.N595N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	595	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATGGGAGGAACCACAAGGTCG	0.557																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1783-1785)aaC>aaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						106.0	84.0	91.0					19																	38946385		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38946385C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1785C>T	19.37:g.38946385C>T			Somatic				RYR1_ENST00000359596.3_Silent_p.N595N|RYR1_ENST00000360985.3_Silent_p.N595N	p.N595N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		16	1916	+	all_cancers(60;7.91e-06)		595			B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.1785C>T	CCDS33011.1																																																																																				0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	69	0	0	0	1	0	4	69				
WHSC1	7468	broad.mit.edu	37	4	1954982	1954982	+	Intron	SNP	G	G	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr4:1954982G>C	ENST00000382895.3	+	14	2568				WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000508803.1_Intron|WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382888.3_Missense_Mutation_p.G38A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1						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)		GATTTTAGTGGCTCAGAACTG	0.448			T	IGH@	MM																																	ENST00000382888.3				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.(112-114)gGc>gCc		Wolf-Hirschhorn syndrome candidate 1																																				SO:0001627	intron_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.chr4:1954982G>C	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.2138-69G>C	4.37:g.1954982G>C			Somatic				WHSC1_ENST00000482415.2_Intron|WHSC1_ENST00000382891.5_Intron|WHSC1_ENST00000382892.2_Intron|WHSC1_ENST00000508803.1_Intron|WHSC1_ENST00000382895.3_Intron	p.G38A			WXS	Illumina GAIIx	Phase_I	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	631	+		all_epithelial(65;1.34e-05)	1258					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.113G>C	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977127	0.34848	.	.	ENSG00000109685	ENST00000382888	D	0.97186	-4.28	5.28	4.24	0.50183	.	.	.	.	.	D	0.93651	0.7972	.	.	.	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	D	0.87338	0.2329	8	0.72032	D	0.01	.	7.9153	0.29814	0.0972:0.2682:0.6347:0.0	.	38	A2A2T2	.	A	38	ENSP00000372344:G38A	ENSP00000372344:G38A	G	+	2	0	WHSC1	1924780	0.023000	0.18921	0.039000	0.18376	0.875000	0.50365	1.803000	0.38863	2.474000	0.83562	0.655000	0.94253	GGC		0.448	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		6	32	0	0	0	1	0	6	32				
IL1R2	7850	broad.mit.edu	37	2	102636166	102636166	+	Missense_Mutation	SNP	G	G	A	rs201409941	byFrequency	TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr2:102636166G>A	ENST00000332549.3	+	5	809	c.580G>A	c.(580-582)Gta>Ata	p.V194I	IL1R2_ENST00000393414.2_Missense_Mutation_p.V194I|IL1R2_ENST00000441002.1_Missense_Mutation_p.V194I	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	194	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TCACTTACTCGTACACGATGT	0.423													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20881	0.0		0.0	False		,,,				2504	0.001				Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(580-582)Gta>Ata		interleukin 1 receptor, type II	Anakinra(DB00026)	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	113.0	96.0	102.0		580,580	-0.8	0.0	2		102	0,8600		0,0,4300	no	missense,missense	IL1R2	NM_173343.1,NM_004633.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	194/399,194/399	102636166	1,13005	2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102636166G>A	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.580G>A	2.37:g.102636166G>A	ENSP00000330959:p.Val194Ile		Somatic				IL1R2_ENST00000441002.1_Missense_Mutation_p.V194I|IL1R2_ENST00000393414.2_Missense_Mutation_p.V194I	p.V194I	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			5	809	+			194			Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.580G>A	CCDS2054.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.393	-0.339374	0.05243	2.27E-4	0.0	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.03	-0.772	0.10998	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.585102	0.17368	N	0.176784	T	0.35128	0.0921	N	0.03209	-0.39	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.32798	-0.9893	10	0.02654	T	1	.	5.6149	0.17426	0.5011:0.1421:0.3568:0.0	.	194	P27930	IL1R2_HUMAN	I	194	ENSP00000330959:V194I;ENSP00000377066:V194I;ENSP00000408415:V194I;ENSP00000414611:V194I	ENSP00000330959:V194I	V	+	1	0	IL1R2	102002598	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.128000	0.15810	-0.356000	0.08187	0.655000	0.94253	GTA		0.423	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		3	55	0	0	0	1	0	3	55				
NLRP4	147945	broad.mit.edu	37	19	56370138	56370138	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:56370138C>T	ENST00000301295.6	+	3	1801	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	NLRP4_ENST00000587891.1_Missense_Mutation_p.A385V|NLRP4_ENST00000346986.5_Missense_Mutation_p.A460V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	460	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAGTTCTGTGCCGCCTTGTTC	0.512																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1378-1380)gCc>gTc		NLR family, pyrin domain containing 4							148.0	143.0	145.0					19																	56370138		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370138C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1379C>T	19.37:g.56370138C>T	ENSP00000301295:p.Ala460Val		Somatic				NLRP4_ENST00000587891.1_Missense_Mutation_p.A385V|NLRP4_ENST00000346986.5_Missense_Mutation_p.A460V	p.A460V	NM_134444.4	NP_604393.2	WXS	Illumina GAIIx	Phase_I	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1801	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	460			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1379C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726560	0.48833	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.90133	-2.62;-2.62	4.1	3.06	0.35304	.	.	.	.	.	D	0.95172	0.8435	M	0.88450	2.955	0.35399	D	0.791452	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.979;0.936	D	0.96472	0.9349	9	0.87932	D	0	.	9.8202	0.40878	0.0:0.8973:0.0:0.1027	.	460;385;460	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	V	460	ENSP00000301295:A460V;ENSP00000344787:A460V	ENSP00000301295:A460V	A	+	2	0	NLRP4	61061950	1.000000	0.71417	0.610000	0.28997	0.158000	0.22134	5.535000	0.67173	1.075000	0.40932	-0.136000	0.14681	GCC		0.512	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		5	310	0	0	0	1	0	5	310				
SH3TC2	79628	broad.mit.edu	37	5	148427438	148427438	+	Missense_Mutation	SNP	C	C	T	rs189591944		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr5:148427438C>T	ENST00000515425.1	-	3	367	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	89					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACAGCATGCGCACCTCCTG	0.527																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(265-267)cGc>cAc		SH3 domain and tetratricopeptide repeats 2							114.0	104.0	107.0					5																	148427438		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148427438C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.266G>A	5.37:g.148427438C>T	ENSP00000423660:p.Arg89His		Somatic				SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H	p.R89H	NM_024577.3	NP_078853.2	WXS	Illumina GAIIx	Phase_I	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	367	-			89					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.266G>A	CCDS4293.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	4.854	0.158796	0.09236	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.75477	-0.94;-0.94	5.38	2.06	0.26882	.	0.705245	0.13816	N	0.360745	T	0.48786	0.1519	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.18310	0.007;0.027;0.007	B;B;B	0.12837	0.001;0.008;0.001	T	0.29427	-1.0012	10	0.13470	T	0.59	.	7.4279	0.27109	0.0:0.6483:0.0:0.3517	.	89;89;89	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	H	89	ENSP00000423660:R89H;ENSP00000421860:R89H	ENSP00000313025:R89H	R	-	2	0	SH3TC2	148407631	0.000000	0.05858	0.279000	0.24732	0.206000	0.24218	0.116000	0.15561	0.727000	0.32360	0.655000	0.94253	CGC		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		4	190	0	0	0	1	0	4	190				
SULF1	23213	broad.mit.edu	37	8	70536394	70536394	+	Silent	SNP	C	C	T	rs375090509		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr8:70536394C>T	ENST00000260128.4	+	15	2529	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	SULF1_ENST00000419716.3_Silent_p.N604N|SULF1_ENST00000458141.2_Silent_p.N604N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.N604N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	604					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATAGCAGCAACGCCGTGGGCC	0.512																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1810-1812)aaC>aaT		sulfatase 1		C	,,,	0,4406		0,0,2203	69.0	63.0	65.0		1812,1812,1812,1812	-1.4	1.0	8		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SULF1	NM_001128204.1,NM_001128205.1,NM_001128206.1,NM_015170.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	604/872,604/872,604/872,604/872	70536394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70536394C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1812C>T	8.37:g.70536394C>T			Somatic				SULF1_ENST00000402687.4_Silent_p.N604N|SULF1_ENST00000419716.3_Silent_p.N604N|SULF1_ENST00000458141.2_Silent_p.N604N|SULF1_ENST00000521946.1_3'UTR	p.N604N	NM_015170.2	NP_055985.2	WXS	Illumina GAIIx	Phase_I	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		15	2529	+	Breast(64;0.0654)		604					Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	c.1812C>T	CCDS6204.1																																																																																				0.512	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		3	22	0	0	0	1	0	3	22				
SGPP1	81537	broad.mit.edu	37	14	64153040	64153040	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:64153040A>G	ENST00000247225.6	-	3	1203	c.1109T>C	c.(1108-1110)cTc>cCc	p.L370P		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	370					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		CATCCCTATGAGGATCCGCAA	0.383																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(1108-1110)cTc>cCc		sphingosine-1-phosphate phosphatase 1							112.0	107.0	109.0					14																	64153040		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64153040A>G	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1109T>C	14.37:g.64153040A>G	ENSP00000247225:p.Leu370Pro		Somatic					p.L370P	NM_030791.2	NP_110418.1	WXS	Illumina GAIIx	Phase_I	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1203	-			370					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1109T>C	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722150	0.30503	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.908777	0.09530	N	0.789664	T	0.61375	0.2342	M	0.64997	1.995	0.21841	N	0.999511	P	0.48998	0.918	P	0.50896	0.653	T	0.57814	-0.7746	9	0.72032	D	0.01	-19.071	16.6406	0.85098	1.0:0.0:0.0:0.0	.	370	Q9BX95	SGPP1_HUMAN	P	370	.	ENSP00000247225:L370P	L	-	2	0	SGPP1	63222793	0.141000	0.22595	0.205000	0.23548	0.622000	0.37654	4.072000	0.57563	2.326000	0.78906	0.533000	0.62120	CTC		0.383	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		3	224	0	0	0	1	0	3	224				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G			Somatic				LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron	p.S598P			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			3	48	0	0	0	1	0	3	48				
DTX4	23220	broad.mit.edu	37	11	58949292	58949292	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:58949292G>A	ENST00000227451.3	+	2	396	c.292G>A	c.(292-294)Gac>Aac	p.D98N	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	98	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTGGGAGAACGACAATGGCTC	0.617																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(292-294)Gac>Aac		deltex homolog 4 (Drosophila)							111.0	119.0	117.0					11																	58949292		2188	4294	6482	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949292G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.292G>A	11.37:g.58949292G>A	ENSP00000227451:p.Asp98Asn		Somatic				DTX4_ENST00000532982.1_5'UTR	p.D98N	NM_015177.1	NP_055992.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E6	DTX4_HUMAN			2	396	+		all_epithelial(135;0.125)	98			WWE 2.		Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.292G>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861272	0.91433	.	.	ENSG00000110042	ENST00000227451	T	0.33654	1.4	4.74	3.83	0.44106	WWE domain (2);WWE domain, subgroup (1);	.	.	.	.	T	0.54447	0.1859	M	0.76727	2.345	0.49389	D	0.999781	D	0.71674	0.998	D	0.64506	0.926	T	0.53975	-0.8362	9	0.33141	T	0.24	.	11.8967	0.52659	0.0852:0.0:0.9148:0.0	.	98	Q9Y2E6	DTX4_HUMAN	N	98	ENSP00000227451:D98N	ENSP00000227451:D98N	D	+	1	0	DTX4	58705868	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	9.222000	0.95196	1.240000	0.43803	0.655000	0.94253	GAC		0.617	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		8	137	0	0	0	1	0	8	137				
ABCA13	154664	broad.mit.edu	37	7	48259051	48259051	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr7:48259051G>C	ENST00000435803.1	+	4	412	c.388G>C	c.(388-390)Gac>Cac	p.D130H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	130					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAATGATGGACAAGGCAAA	0.423																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(388-390)Gac>Cac		ATP-binding cassette, sub-family A (ABC1), member 13							118.0	112.0	114.0					7																	48259051		1856	4099	5955	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48259051G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.388G>C	7.37:g.48259051G>C	ENSP00000411096:p.Asp130His		Somatic					p.D130H	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			4	412	+			130					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.388G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	9.686	1.150597	0.21371	.	.	ENSG00000179869	ENST00000435803	T	0.31769	1.48	5.58	3.77	0.43336	.	0.553548	0.16120	N	0.228711	T	0.35393	0.0930	L	0.38531	1.155	0.80722	D	1	P;P	0.45474	0.746;0.859	B;P	0.51170	0.236;0.661	T	0.02625	-1.1132	10	0.56958	D	0.05	.	11.5377	0.50648	0.1596:0.0:0.8404:0.0	.	130;130	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	H	130	ENSP00000411096:D130H	ENSP00000409268:D130H	D	+	1	0	ABCA13	48229597	0.983000	0.35010	0.864000	0.33941	0.340000	0.28889	0.453000	0.21811	0.408000	0.25621	-0.797000	0.03246	GAC		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	199	0	0	0	1	0	10	199				
PTPN23	25930	broad.mit.edu	37	3	47452810	47452810	+	Silent	SNP	G	G	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr3:47452810G>A	ENST00000265562.4	+	20	3599	c.3522G>A	c.(3520-3522)ttG>ttA	p.L1174L	PTPN23_ENST00000431726.1_Silent_p.L1048L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1174					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCGGCAGTTGCAGCAGGAGC	0.647																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(3520-3522)ttG>ttA		protein tyrosine phosphatase, non-receptor type 23							28.0	28.0	28.0					3																	47452810		2200	4295	6495	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452810G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3522G>A	3.37:g.47452810G>A			Somatic				PTPN23_ENST00000431726.1_Silent_p.L1048L	p.L1174L	NM_015466.2	NP_056281.1	WXS	Illumina GAIIx	Phase_I	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	3599	+			1174					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.3522G>A	CCDS2754.1																																																																																				0.647	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		10	16	0	0	0	1	0	10	16				
ANK2	287	broad.mit.edu	37	4	114278292	114278292	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr4:114278292C>A	ENST00000357077.4	+	38	8571	c.8518C>A	c.(8518-8520)Ccc>Acc	p.P2840T	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2807T|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2840					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCAGATTGCCCCAGTGAAAG	0.393																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(8518-8520)Ccc>Acc		ankyrin 2, neuronal							115.0	113.0	114.0					4																	114278292		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114278292C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8518C>A	4.37:g.114278292C>A	ENSP00000349588:p.Pro2840Thr		Somatic				ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2807T|ANK2_ENST00000509550.1_Intron	p.P2840T	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8571	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2807					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8518C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	3.677	-0.066266	0.07273	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65732	-0.15;-0.17	5.75	2.95	0.34219	.	0.690178	0.13177	N	0.407839	T	0.50240	0.1604	L	0.50333	1.59	0.20638	N	0.999876	B;B	0.31548	0.22;0.328	B;B	0.31101	0.115;0.124	T	0.39418	-0.9615	9	.	.	.	.	4.104	0.10028	0.0:0.4836:0.1706:0.3459	.	2807;2840	Q01484;Q01484-4	ANK2_HUMAN;.	T	2840;2807	ENSP00000349588:P2840T;ENSP00000264366:P2807T	.	P	+	1	0	ANK2	114497741	0.001000	0.12720	0.022000	0.16811	0.053000	0.15095	0.315000	0.19451	0.286000	0.22352	-0.145000	0.13849	CCC		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		17	279	1	0	4.96729e-08	1	5.37004e-08	17	279				
ZNF28	7576	broad.mit.edu	37	19	53303044	53303044	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:53303044T>A	ENST00000457749.2	-	4	2173	c.2054A>T	c.(2053-2055)cAt>cTt	p.H685L	ZNF28_ENST00000414252.2_Missense_Mutation_p.H632L|ZNF28_ENST00000360272.4_Missense_Mutation_p.H632L|ZNF28_ENST00000438150.2_Missense_Mutation_p.H632L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	685					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)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CTCTCCAGTATGAACTCTCTG	0.408																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1894-1896)cAt>cTt		zinc finger protein 28							143.0	138.0	140.0					19																	53303044		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303044T>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.2054A>T	19.37:g.53303044T>A	ENSP00000397693:p.His685Leu		Somatic				ZNF28_ENST00000414252.2_Missense_Mutation_p.H632L|ZNF28_ENST00000360272.4_Missense_Mutation_p.H632L|ZNF28_ENST00000457749.2_Missense_Mutation_p.H685L	p.H632L			WXS	Illumina GAIIx	Phase_I	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2788	-			685					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1895A>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	17.20	3.328208	0.60743	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	1.94	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84871	0.5568	H	0.95917	3.74	0.33373	D	0.573797	D	0.76494	0.999	D	0.81914	0.995	D	0.87226	0.2257	9	0.87932	D	0	.	8.6682	0.34134	0.0:0.0:0.0:1.0	.	685	P17035	ZNF28_HUMAN	L	632;685;632;632	ENSP00000412143:H632L;ENSP00000397693:H685L;ENSP00000353410:H632L;ENSP00000444965:H632L	ENSP00000353410:H632L	H	-	2	0	ZNF28	57994856	0.993000	0.37304	0.008000	0.14137	0.034000	0.12701	3.449000	0.52950	0.889000	0.36185	0.372000	0.22366	CAT		0.408	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		5	396	0	0	0	1	0	5	396				
ROM1	6094	broad.mit.edu	37	11	62381766	62381778	+	Frame_Shift_Del	DEL	TGATGGGGTCCCT	TGATGGGGTCCCT	-	rs200287184		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr11:62381766_62381778delTGATGGGGTCCCT	ENST00000278833.3	+	2	1168_1180	c.627_639delTGATGGGGTCCCT	c.(625-639)actgatggggtccctfs	p.TDGVP209fs	EML3_ENST00000394773.2_5'Flank|ROM1_ENST00000534093.1_Start_Codon_Del|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000529309.1_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	209					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						TATACCTGACTGATGGGGTCCCTTTCTCCTGTT	0.582																																						ENST00000278833.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						c.(625-639)acfs		retinal outer segment membrane protein 1																																				SO:0001589	frameshift_variant	6094				cell adhesion|visual perception	integral to plasma membrane		g.chr11:62381766_62381778delTGATGGGGTCCCT	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.627_639delTGATGGGGTCCCT	11.37:g.62381766_62381778delTGATGGGGTCCCT	ENSP00000278833:p.Thr209fs		Somatic				ROM1_ENST00000534093.1_Start_Codon_Del	p.TDGVP209fs	NM_000327.3	NP_000318.1	WXS	Illumina GAIIx	Phase_I	Q03395	ROM1_HUMAN			2	1168_1180	+			209					B2R978	Frame_Shift_Del	DEL	ENST00000278833.3	37	c.627_639delTGATGGGGTCCCT	CCDS8024.1																																																																																				0.582	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		21	520						21	520	---	---	---	---
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868218	+	RNA	DEL	GTGT	GTGT	-	rs56304844|rs113592903	byFrequency	TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr12:110868215_110868218delGTGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgtgt	0.49																																						ENST00000550231.1																			0																																																			0							g.chr12:110868215_110868218delGTGT																													12.37:g.110868223_110868226delGTGT			Somatic								WXS	Illumina GAIIx	Phase_I					0	97	-									RNA	DEL	ENST00000550231.1	37																																																																																						0.490	RP11-478C19.2-001	KNOWN	basic|readthrough_transcript	retained_intron	processed_transcript	OTTHUMT00000404601.1			2	4						2	4	---	---	---	---
DAOA-AS1	282706	broad.mit.edu	37	13	106148111	106148114	+	RNA	DEL	CTTC	CTTC	-	rs369531181|rs150872534		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr13:106148111_106148114delCTTC	ENST00000448407.1	-	0	100					NR_040247.1				DAOA antisense RNA 1																		GGATCTTTCTcttccttccttcct	0.353																																						ENST00000448407.1																			0																																																			282706							g.chr13:106148111_106148114delCTTC	AY138548		13q33.2	2012-10-12	2012-08-15	2010-11-25	ENSG00000232307	ENSG00000232307		"""Long non-coding RNAs"""	30243	non-coding RNA	RNA, long non-coding	"""G30 transcript"""	607415	"""DAOA antisense RNA (non-protein coding)"", ""DAOA antisense RNA 1 (non-protein coding)"""	DAOAAS, DAOA-AS		12364586, 12647258	Standard	NR_040247		Approved	G30	uc021rmh.1		OTTHUMG00000041332		13.37:g.106148119_106148122delCTTC			Somatic						NR_040247.1		WXS	Illumina GAIIx	Phase_I					0	100	-									RNA	DEL	ENST00000448407.1	37																																																																																						0.353	DAOA-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000099035.1			7	7						7	7	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24727524	24727524	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr14:24727524delC	ENST00000206765.6	-	9	1492	c.1369delG	c.(1369-1371)gtgfs	p.V458fs	TGM1_ENST00000544573.1_Frame_Shift_Del_p.V16fs	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	458					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCATCCACCACCTGCCACCCA	0.602																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(1369-1371)tgfs		transglutaminase 1	L-Glutamine(DB00130)						46.0	45.0	45.0					14																	24727524		2203	4300	6503	SO:0001589	frameshift_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24727524delC	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1369delG	14.37:g.24727524delC	ENSP00000206765:p.Val458fs		Somatic				TGM1_ENST00000544573.1_Frame_Shift_Del_p.V16fs	p.V458fs	NM_000359.2	NP_000350.1	WXS	Illumina GAIIx	Phase_I	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	9	1492	-			458					B4DWR7|Q197M4	Frame_Shift_Del	DEL	ENST00000206765.6	37	c.1369delG	CCDS9622.1																																																																																				0.602	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		13	40						13	40	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4933983	4933984	+	RNA	DEL	GC	GC	-	rs59787330|rs59657454|rs199668164|rs8108532|rs72027461|rs66955211		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr19:4933983_4933984delGC	ENST00000592666.1	+	0	1361				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		gtgtgtgtgtgcgtgtgtgtgt	0.416																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4933983_4933984delGC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4933983_4933984delGC			Somatic								WXS	Illumina GAIIx	Phase_I	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	1361	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	DEL	ENST00000592666.1	37																																																																																						0.416	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		3	3						3	3	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889714	58889717	+	lincRNA	DEL	CCAT	CCAT	-	rs111212421		TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr20:58889714_58889717delCCAT	ENST00000432910.1	+	0	332					NR_046099.1																						atccaccctcccatccatccatcc	0.539																																						ENST00000432910.1																			0																																																			284757							g.chr20:58889714_58889717delCCAT																													20.37:g.58889722_58889725delCCAT			Somatic						NR_046099.1		WXS	Illumina GAIIx	Phase_I					0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.539	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			3	4						3	4	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843613	18843613	+	Intron	DEL	G	G	-	rs201642685	byFrequency	TCGA-B0-5083-01A-02D-1421-08	TCGA-B0-5083-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f90cb64-c4b8-45b1-a734-886b758871c9	6e87b1c0-278e-4d50-b05a-ee0fdf35c21d	g.chr22:18843613delG	ENST00000412938.1	+	4	2337																											AGGAGAGGCAGGGGCGGGGGT	0.622													gggg|GGGG|GGG|deletion	680	0.135783	0.2247	0.0994	5008	,	,		26818	0.003		0.1948	False		,,,				2504	0.1176					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	100133163							g.chr22:18843613delG																												ENST00000412938.1:c.2337+182G>-	22.37:g.18843613delG			Somatic								WXS	Illumina GAIIx	Phase_I					0	2337	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	6						3	6	---	---	---	---
