#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
JMJD1C	221037	broad.mit.edu	37	10	64967854	64967854	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr10:64967854G>C	ENST00000399262.2	-	10	3793	c.3575C>G	c.(3574-3576)tCt>tGt	p.S1192C	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1010C|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S973C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S973C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1192					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATTTGTAGAAGAAACTGTCAA	0.428																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(3574-3576)tCt>tGt		jumonji domain containing 1C							161.0	155.0	157.0					10																	64967854		1936	4150	6086	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967854G>C	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3575C>G	10.37:g.64967854G>C	ENSP00000382204:p.Ser1192Cys					JMJD1C_ENST00000402544.1_Missense_Mutation_p.S973C|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S973C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1010C	p.S1192C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	3793	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1192					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3575C>G	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312108	0.23821	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.58652	0.67;0.32;2.22;0.67	5.7	4.79	0.61399	.	0.418351	0.27122	N	0.020823	T	0.57799	0.2078	M	0.62723	1.935	0.54753	D	0.99998	B;B;B	0.14805	0.011;0.005;0.005	B;B;B	0.16289	0.015;0.011;0.004	T	0.56541	-0.7962	10	0.52906	T	0.07	-7.8529	16.9256	0.86175	0.0:0.1277:0.8723:0.0	.	733;1192;1010	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	C	1192;973;973;1010	ENSP00000382204:S1192C;ENSP00000384990:S973C;ENSP00000382195:S973C;ENSP00000444682:S1010C	ENSP00000382195:S973C	S	-	2	0	JMJD1C	64637860	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.123000	0.50453	1.378000	0.46305	0.563000	0.77884	TCT		0.428	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		31	48	0	0	0	1	0	31	48				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	106	1	0	0.014758	1	0.0151269	4	106				
RYR1	6261	broad.mit.edu	37	19	38976628	38976628	+	Missense_Mutation	SNP	C	C	T	rs367543055		TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:38976628C>T	ENST00000359596.3	+	34	5333	c.5333C>T	c.(5332-5334)tCg>tTg	p.S1778L	RYR1_ENST00000360985.3_Missense_Mutation_p.S1778L|RYR1_ENST00000355481.4_Missense_Mutation_p.S1778L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1778	6 X approximate repeats.				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)	CATCATTTCTCGCCCCCCTGT	0.682																																						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.(5332-5334)tCg>tTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						33.0	33.0	33.0					19																	38976628		2203	4300	6503	SO:0001583	missense	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.chr19:38976628C>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.5333C>T	19.37:g.38976628C>T	ENSP00000352608:p.Ser1778Leu					RYR1_ENST00000360985.3_Missense_Mutation_p.S1778L|RYR1_ENST00000359596.3_Missense_Mutation_p.S1778L	p.S1778L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5464	+	all_cancers(60;7.91e-06)		1778			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5333C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	5.608	0.296940	0.10622	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.80214	-1.35;-1.35;-1.35	3.62	1.4	0.22301	.	0.090924	0.45606	U	0.000349	T	0.74168	0.3681	M	0.68317	2.08	0.38639	D	0.951556	B;B	0.29531	0.247;0.03	B;B	0.20955	0.032;0.017	T	0.70857	-0.4758	10	0.59425	D	0.04	.	9.4981	0.38999	0.0:0.8187:0.0:0.1813	.	1778;1778	P21817-2;P21817	.;RYR1_HUMAN	L	1778	ENSP00000352608:S1778L;ENSP00000347667:S1778L;ENSP00000354254:S1778L	ENSP00000347667:S1778L	S	+	2	0	RYR1	43668468	1.000000	0.71417	0.315000	0.25238	0.115000	0.19883	4.763000	0.62257	0.220000	0.20860	0.585000	0.79938	TCG		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	14	0	0	0	1	0	11	14				
PHLPP2	23035	broad.mit.edu	37	16	71715791	71715791	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr16:71715791G>C	ENST00000568954.1	-	6	1131	c.753C>G	c.(751-753)atC>atG	p.I251M	PHLPP2_ENST00000356272.3_Missense_Mutation_p.I251M|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I286M|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I251M|PHLPP2_ENST00000393524.2_Missense_Mutation_p.I251M			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	251					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCACGGTACTGATTCGCTGGG	0.458																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(751-753)atC>atG		PH domain and leucine rich repeat protein phosphatase 2							113.0	102.0	106.0					16																	71715791		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71715791G>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.753C>G	16.37:g.71715791G>C	ENSP00000457991:p.Ile251Met					PHLPP2_ENST00000568954.1_Missense_Mutation_p.I251M|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I251M|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I251M|PHLPP2_ENST00000567016.1_Missense_Mutation_p.I286M	p.I251M			Q6ZVD8	PHLP2_HUMAN			5	1486	-			251					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.753C>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201215	0.38905	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.34667	1.74;1.35;1.74	5.72	0.0972	0.14493	.	0.298254	0.38959	N	0.001516	T	0.17662	0.0424	N	0.17723	0.515	0.28640	N	0.907206	B;B	0.10296	0.003;0.001	B;B	0.15052	0.012;0.004	T	0.08166	-1.0735	10	0.59425	D	0.04	-8.3265	2.1145	0.03710	0.2756:0.1307:0.4602:0.1335	.	251;251	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	M	58;251;251;251;251	ENSP00000353610:I251M;ENSP00000348611:I251M;ENSP00000377159:I251M	ENSP00000299971:I58M	I	-	3	3	PHLPP2	70273292	0.995000	0.38212	1.000000	0.80357	0.942000	0.58702	0.240000	0.18042	0.421000	0.25980	0.650000	0.86243	ATC		0.458	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		18	35	0	0	0	1	0	18	35				
PPFIA1	8500	broad.mit.edu	37	11	70118297	70118297	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr11:70118297C>T	ENST00000253925.7	+	2	234	c.19C>T	c.(19-21)Ccg>Tcg	p.P7S	PPFIA1_ENST00000389547.3_Missense_Mutation_p.P7S	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	7					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGAGGTGATGCCGACCATCAG	0.493																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(19-21)Ccg>Tcg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							111.0	122.0	119.0					11																	70118297		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70118297C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.19C>T	11.37:g.70118297C>T	ENSP00000253925:p.Pro7Ser					PPFIA1_ENST00000389547.3_Missense_Mutation_p.P7S	p.P7S	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		2	234	+			7					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.19C>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420175	0.83559	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000530746;ENST00000532024	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.03	4.1	0.47936	.	0.000000	0.64402	U	0.000003	D	0.85457	0.5701	M	0.76170	2.325	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87360	0.2343	10	0.87932	D	0	.	15.3894	0.74731	0.0:0.8602:0.1398:0.0	.	7;7	Q13136;Q13136-2	LIPA1_HUMAN;.	S	7	ENSP00000253925:P7S;ENSP00000374198:P7S;ENSP00000432722:P7S;ENSP00000432065:P7S	ENSP00000253925:P7S	P	+	1	0	PPFIA1	69795945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.493000	0.81493	1.089000	0.41292	0.643000	0.83706	CCG		0.493	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		4	104	0	0	0	1	0	4	104				
RUSC1	23623	broad.mit.edu	37	1	155291907	155291907	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:155291907G>A	ENST00000368352.5	+	2	494	c.343G>A	c.(343-345)Gat>Aat	p.D115N	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.D115N|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	115					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTTAGCCCCGATGAGTCCCC	0.632																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(343-345)Gat>Aat		RUN and SH3 domain containing 1							50.0	53.0	52.0					1																	155291907		2048	4197	6245	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155291907G>A	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.343G>A	1.37:g.155291907G>A	ENSP00000357336:p.Asp115Asn					RUSC1_ENST00000368354.3_Missense_Mutation_p.D115N|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	p.D115N	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	494	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		115					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.343G>A	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018640	0.75275	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.38722	1.19;1.12	4.7	4.7	0.59300	.	0.000000	0.51477	D	0.000083	T	0.41373	0.1156	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.44726	-0.9309	10	0.72032	D	0.01	-8.0152	15.1661	0.72825	0.0:0.0:1.0:0.0	.	115	Q9BVN2	RUSC1_HUMAN	N	115	ENSP00000357338:D115N;ENSP00000357336:D115N	ENSP00000357336:D115N	D	+	1	0	RUSC1	153558531	1.000000	0.71417	0.747000	0.31113	0.807000	0.45602	6.635000	0.74295	2.437000	0.82529	0.561000	0.74099	GAT		0.632	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			3	48	0	0	0	1	0	3	48				
LAMB2	3913	broad.mit.edu	37	3	49166486	49166486	+	Silent	SNP	G	G	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:49166486G>A	ENST00000418109.1	-	14	1862	c.1698C>T	c.(1696-1698)caC>caT	p.H566H	LAMB2_ENST00000305544.4_Silent_p.H566H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	566	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCAAATTAGGTGGTCCAGGA	0.632																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1696-1698)caC>caT		laminin, beta 2 (laminin S)							60.0	59.0	59.0					3																	49166486		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49166486G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1698C>T	3.37:g.49166486G>A						LAMB2_ENST00000305544.4_Silent_p.H566H	p.H566H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	1862	-			566			Laminin IV type B.		Q16321	Silent	SNP	ENST00000418109.1	37	c.1698C>T	CCDS2789.1																																																																																				0.632	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		17	45	0	0	0	1	0	17	45				
TJP2	9414	broad.mit.edu	37	9	71866097	71866097	+	Silent	SNP	G	G	C			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr9:71866097G>C	ENST00000377245.4	+	21	3346	c.3138G>C	c.(3136-3138)ggG>ggC	p.G1046G	TJP2_ENST00000539225.1_Silent_p.G1077G|TJP2_ENST00000535702.1_Silent_p.G1013G|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000453658.2_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1046					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CTACCTTTGGGCGGTCTATAC	0.517																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(3136-3138)ggG>ggC		tight junction protein 2							90.0	85.0	87.0					9																	71866097		2203	4300	6503	SO:0001819	synonymous_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71866097G>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.3138G>C	9.37:g.71866097G>C						TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Silent_p.G1077G|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Silent_p.G1013G	p.G1046G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			21	3346	+			1046					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.3138G>C	CCDS6627.1																																																																																				0.517	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		16	30	0	0	0	1	0	16	30				
DSC1	1823	broad.mit.edu	37	18	28728466	28728466	+	Missense_Mutation	SNP	C	C	T	rs374935177		TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr18:28728466C>T	ENST00000257198.5	-	6	1028	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.R256Q	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	256	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTTACCGGATCGGCAATTTTC	0.323																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(766-768)cGa>cAa		desmocollin 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	141.0	138.0	139.0		767,767	3.0	0.1	18		139	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DSC1	NM_004948.3,NM_024421.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	256/841,256/895	28728466	1,13005	2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28728466C>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.767G>A	18.37:g.28728466C>T	ENSP00000257198:p.Arg256Gln					DSC1_ENST00000257198.5_Missense_Mutation_p.R256Q|RP11-408H20.2_ENST00000581836.1_RNA	p.R256Q	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		6	1028	-			256			Cadherin 2.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.767G>A	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361005	0.41801	0.0	1.16E-4	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.52526	0.66;0.66	4.87	3.01	0.34805	Cadherin (4);Cadherin-like (1);	0.000000	0.41823	D	0.000816	T	0.46288	0.1385	L	0.55834	1.745	0.28780	N	0.899913	P;D	0.57257	0.947;0.979	P;P	0.48815	0.591;0.591	T	0.42207	-0.9465	10	0.45353	T	0.12	.	7.9395	0.29950	0.0:0.7249:0.0:0.2751	.	256;256	Q08554;Q9HB00	DSC1_HUMAN;.	Q	256	ENSP00000257197:R256Q;ENSP00000257198:R256Q	ENSP00000257197:R256Q	R	-	2	0	DSC1	26982464	0.559000	0.26562	0.060000	0.19600	0.141000	0.21300	0.541000	0.23207	0.521000	0.28445	0.655000	0.94253	CGA		0.323	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		4	83	0	0	0	1	0	4	83				
C11orf84	144097	broad.mit.edu	37	11	63586114	63586114	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr11:63586114C>T	ENST00000294244.4	+	4	1022	c.723C>T	c.(721-723)gaC>gaT	p.D241D		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	241	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AAAACCTGGACCCTGACCCAG	0.607																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(721-723)gaC>gaT		chromosome 11 open reading frame 84							45.0	53.0	50.0					11																	63586114		2201	4298	6499	SO:0001819	synonymous_variant	144097							g.chr11:63586114C>T	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.723C>T	11.37:g.63586114C>T							p.D241D	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			4	1022	+			241			Pro-rich.		Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	ENST00000294244.4	37	c.723C>T	CCDS31594.1																																																																																				0.607	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		20	23	0	0	0	1	0	20	23				
THSD1	55901	broad.mit.edu	37	13	52972257	52972257	+	Missense_Mutation	SNP	A	A	G			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:52972257A>G	ENST00000258613.4	-	3	309	c.131T>C	c.(130-132)gTg>gCg	p.V44A	THSD1_ENST00000349258.4_Missense_Mutation_p.V44A|THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	44					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTGGAAATCCACATACACTGT	0.443																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(130-132)gTg>gCg		thrombospondin, type I, domain containing 1							137.0	113.0	121.0					13																	52972257		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52972257A>G	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.131T>C	13.37:g.52972257A>G	ENSP00000258613:p.Val44Ala					THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.V44A	p.V44A	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	675	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	44					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.131T>C	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762203	0.69763	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.32272	1.46;1.5	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.985	T	0.61053	-0.7140	10	0.87932	D	0	-28.6985	15.4617	0.75363	1.0:0.0:0.0:0.0	.	44;44	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	A	44	ENSP00000340650:V44A;ENSP00000258613:V44A	ENSP00000258613:V44A	V	-	2	0	THSD1	51870258	1.000000	0.71417	0.998000	0.56505	0.426000	0.31534	7.756000	0.85195	2.248000	0.74166	0.533000	0.62120	GTG		0.443	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			38	56	0	0	0	1	0	38	56				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		3	27	0	0	0	1	0	3	27				
PNLIPRP2	5408	broad.mit.edu	37	10	118385512	118385512	+	RNA	SNP	G	G	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr10:118385512G>A	ENST00000298771.7	+	0	285				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CAACTGGACCGCAAGACACGC	0.498																																						ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2							74.0	81.0	79.0					10																	118385512		2142	4277	6419			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118385512G>A	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118385512G>A						PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	286	+								A8K627|Q6IB55	RNA	SNP	ENST00000298771.7	37			.	.	.	.	.	.	.	.	.	.	G	14.54	2.564789	0.45694	.	.	ENSG00000165862	ENST00000537242	D	0.90955	-2.76	5.86	4.96	0.65561	Lipase, N-terminal (1);	0.000000	0.53938	D	0.000049	D	0.94185	0.8134	.	.	.	0.23784	N	0.996856	D	0.89917	1.0	D	0.74674	0.984	D	0.88306	0.2953	9	0.62326	D	0.03	.	11.2177	0.48835	0.1485:0.0:0.8515:0.0	.	87	P54317	LIPR2_HUMAN	H	87	ENSP00000446346:R87H	ENSP00000446346:R87H	R	+	2	0	PNLIPRP2	118375502	0.988000	0.35896	1.000000	0.80357	0.992000	0.81027	1.278000	0.33179	1.621000	0.50320	0.650000	0.86243	CGC		0.498	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		19	15	0	0	0	1	0	19	15				
RNF166	115992	broad.mit.edu	37	16	88767774	88767774	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr16:88767774G>A	ENST00000312838.4	-	2	303	c.208C>T	c.(208-210)Cca>Tca	p.P70S	RNF166_ENST00000537718.2_5'Flank|RNF166_ENST00000562499.1_5'UTR|RNF166_ENST00000541206.2_5'UTR|RNF166_ENST00000568683.1_5'Flank|RNF166_ENST00000567844.1_Intron|RP5-1142A6.5_ENST00000561699.1_RNA	NM_178841.3	NP_849163.1	Q96A37	RN166_HUMAN	ring finger protein 166	70							zinc ion binding (GO:0008270)			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGGCAGAGTGGGCACAGCGGG	0.672																																						ENST00000312838.4																			0				endometrium(1)	1						c.(208-210)Cca>Tca		ring finger protein 166							67.0	62.0	64.0					16																	88767774		2197	4300	6497	SO:0001583	missense	115992					intracellular	zinc ion binding	g.chr16:88767774G>A	AK057106	CCDS10969.1, CCDS54056.1, CCDS54057.1	16q24.3	2013-01-09			ENSG00000158717	ENSG00000158717		"""RING-type (C3HC4) zinc fingers"""	28856	protein-coding gene	gene with protein product						12477932	Standard	NM_178841		Approved	MGC2647, MGC14381	uc002flk.3	Q96A37	OTTHUMG00000137863	ENST00000312838.4:c.208C>T	16.37:g.88767774G>A	ENSP00000326095:p.Pro70Ser					RNF166_ENST00000562499.1_5'UTR|RNF166_ENST00000567844.1_Intron|RNF166_ENST00000541206.2_5'UTR	p.P70S	NM_178841.3	NP_849163.1	Q96A37	RN166_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	2	303	-			70					B3KQ03|D3DX75|H3BTU8|Q96DM0	Missense_Mutation	SNP	ENST00000312838.4	37	c.208C>T	CCDS10969.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763926	0.69878	.	.	ENSG00000158717	ENST00000312838	T	0.66638	-0.22	4.45	4.45	0.53987	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	M	0.92604	3.325	0.80722	D	1	D	0.63046	0.992	P	0.55871	0.786	D	0.88093	0.2814	10	0.62326	D	0.03	-17.7571	17.0939	0.86628	0.0:0.0:1.0:0.0	.	70	Q96A37	RN166_HUMAN	S	70	ENSP00000326095:P70S	ENSP00000326095:P70S	P	-	1	0	RNF166	87295275	1.000000	0.71417	0.993000	0.49108	0.659000	0.38960	7.189000	0.77747	2.043000	0.60533	0.313000	0.20887	CCA		0.672	RNF166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269544.1	NM_178841		11	23	0	0	0	1	0	11	23				
C19orf73	55150	broad.mit.edu	37	19	49622247	49622247	+	Silent	SNP	G	G	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr19:49622247G>A	ENST00000408991.2	-	1	150	c.33C>T	c.(31-33)ggC>ggT	p.G11G	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	11										large_intestine(1)|lung(2)	3						TCCGGAAGCAGCCCCCGCCTT	0.697																																						ENST00000408991.2																			0				large_intestine(1)|lung(2)	3						c.(31-33)ggC>ggT		chromosome 19 open reading frame 73							32.0	35.0	34.0					19																	49622247		1970	4131	6101	SO:0001819	synonymous_variant	55150							g.chr19:49622247G>A	AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.33C>T	19.37:g.49622247G>A							p.G11G	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN			1	150	-			11					Q6NSX4	Silent	SNP	ENST00000408991.2	37	c.33C>T	CCDS42589.1																																																																																				0.697	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1	NM_018111		24	34	0	0	0	1	0	24	34				
FAM65B	9750	broad.mit.edu	37	6	24843281	24843281	+	Missense_Mutation	SNP	G	G	T			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr6:24843281G>T	ENST00000259698.4	-	14	1904	c.1729C>A	c.(1729-1731)Cca>Aca	p.P577T	FAM65B_ENST00000378023.4_Missense_Mutation_p.P527T|FAM65B_ENST00000538035.1_Missense_Mutation_p.P556T|FAM65B_ENST00000510784.2_Missense_Mutation_p.P561T|FAM65B_ENST00000473070.1_5'UTR|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000540914.1_Missense_Mutation_p.P527T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	577					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GTGGCCATTGGCACCTCTGCA	0.517																																						ENST00000259698.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1729-1731)Cca>Aca		family with sequence similarity 65, member B							180.0	183.0	182.0					6																	24843281		1995	4184	6179	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843281G>T	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1729C>A	6.37:g.24843281G>T	ENSP00000259698:p.Pro577Thr					FAM65B_ENST00000538035.1_Missense_Mutation_p.P556T|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.P527T|FAM65B_ENST00000540914.1_Missense_Mutation_p.P527T|FAM65B_ENST00000510784.2_Missense_Mutation_p.P561T	p.P577T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN			14	1904	-			577					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.1729C>A	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974375	0.34848	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.5	4.63	0.57726	.	0.507709	0.23508	N	0.047422	T	0.24314	0.0589	M	0.62723	1.935	0.09310	N	1	B;P;B;P	0.41232	0.051;0.702;0.016;0.743	B;B;B;B	0.42593	0.019;0.313;0.011;0.392	T	0.09443	-1.0674	10	0.72032	D	0.01	-15.7976	9.5873	0.39524	0.0726:0.0:0.7887:0.1388	.	561;556;527;577	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	T	577;556;527;527;561	ENSP00000259698:P577T;ENSP00000441138:P556T;ENSP00000367262:P527T;ENSP00000438425:P527T;ENSP00000441305:P561T	ENSP00000259698:P577T	P	-	1	0	FAM65B	24951260	0.681000	0.27614	0.989000	0.46669	0.655000	0.38815	2.149000	0.42244	2.573000	0.86826	0.563000	0.77884	CCA		0.517	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			4	167	1	0	0.014758	1	0.0151269	4	167				
KIAA2018	205717	broad.mit.edu	37	3	113376163	113376163	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:113376163T>C	ENST00000478658.1	-	5	4383	c.4366A>G	c.(4366-4368)Aac>Gac	p.N1456D	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.N1456D			Q68DE3	K2018_HUMAN	KIAA2018	1456	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAGAGATGGTTACTATGAAGG	0.507																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(4366-4368)Aac>Gac		KIAA2018							84.0	87.0	86.0					3																	113376163		2191	4281	6472	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113376163T>C	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4366A>G	3.37:g.113376163T>C	ENSP00000420721:p.Asn1456Asp					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1456D	p.N1456D	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	4776	-			1456			Gln-rich.		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.4366A>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444094	0.63067	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.20738	2.05;2.05	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.27053	0.805	0.44627	D	0.997608	D	0.57257	0.979	P	0.47528	0.549	T	0.01904	-1.1250	10	0.26408	T	0.33	-13.8159	15.5299	0.75952	0.0:0.0:0.0:1.0	.	1456	Q68DE3	K2018_HUMAN	D	1456	ENSP00000320794:N1456D;ENSP00000420721:N1456D	ENSP00000320794:N1456D	N	-	1	0	KIAA2018	114858853	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.790000	0.62453	2.254000	0.74563	0.459000	0.35465	AAC		0.507	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		11	8	0	0	0	1	0	11	8				
TMCO3	55002	broad.mit.edu	37	13	114149995	114149995	+	Missense_Mutation	SNP	C	C	G			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:114149995C>G	ENST00000434316.2	+	2	458	c.99C>G	c.(97-99)atC>atG	p.I33M	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.I33M	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	33						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGCGTGTGATCAAACTGCACC	0.632																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(97-99)atC>atG		transmembrane and coiled-coil domains 3							55.0	51.0	53.0					13																	114149995		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114149995C>G	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.99C>G	13.37:g.114149995C>G	ENSP00000389399:p.Ile33Met					TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.I33M	p.I33M	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	458	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	33					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.99C>G	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919502	0.33908	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.37058	1.22	5.46	2.47	0.30058	.	0.155744	0.53938	D	0.000052	T	0.34687	0.0906	L	0.60455	1.87	0.41435	D	0.987882	P;D	0.53151	0.901;0.958	B;P	0.45610	0.366;0.487	T	0.16600	-1.0397	10	0.72032	D	0.01	-10.9423	6.5423	0.22387	0.2659:0.5633:0.0:0.1708	.	33;33	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	M	33	ENSP00000389399:I33M	ENSP00000364540:I33M	I	+	3	3	TMCO3	113197996	0.999000	0.42202	0.014000	0.15608	0.194000	0.23727	1.023000	0.30065	0.695000	0.31675	0.555000	0.69702	ATC		0.632	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		4	14	0	0	0	1	0	4	14				
BRD7	29117	broad.mit.edu	37	16	50359768	50359768	+	Missense_Mutation	SNP	T	T	C	rs4027458		TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr16:50359768T>C	ENST00000394688.3	-	11	1381	c.1222A>G	c.(1222-1224)Agt>Ggt	p.S408G	BRD7_ENST00000394689.2_Missense_Mutation_p.S408G			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	408					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GCATAAGAACTGTAGGGCCCA	0.333																																						ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(1222-1224)Agt>Ggt		bromodomain containing 7							54.0	53.0	54.0					16																	50359768		2198	4298	6496	SO:0001583	missense	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50359768T>C	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1222A>G	16.37:g.50359768T>C	ENSP00000378180:p.Ser408Gly					BRD7_ENST00000394689.2_Missense_Mutation_p.S408G	p.S408G			Q9NPI1	BRD7_HUMAN			11	1381	-		all_cancers(37;0.0127)	408					Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	c.1222A>G	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947554	0.53186	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.49432	0.78;0.78	5.47	5.47	0.80525	.	0.041755	0.85682	D	0.000000	T	0.41581	0.1165	L	0.41961	1.31	0.53688	D	0.999977	P;P	0.44521	0.837;0.804	B;B	0.41412	0.356;0.242	T	0.21724	-1.0237	10	0.15952	T	0.53	-3.8252	15.5527	0.76167	0.0:0.0:0.0:1.0	rs4027458	408;408	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	G	408	ENSP00000378180:S408G;ENSP00000378181:S408G	ENSP00000378180:S408G	S	-	1	0	BRD7	48917269	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.528000	0.81941	2.070000	0.61991	0.533000	0.62120	AGT		0.333	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		19	27	0	0	0	1	0	19	27				
SLITRK1	114798	broad.mit.edu	37	13	84455344	84455344	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:84455344C>T	ENST00000377084.2	-	1	1184	c.299G>A	c.(298-300)gGg>gAg	p.G100E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	100					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGAAAAGCCCCCGGAACGAT	0.463																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(298-300)gGg>gAg		SLIT and NTRK-like family, member 1							65.0	69.0	68.0					13																	84455344		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455344C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.299G>A	13.37:g.84455344C>T	ENSP00000366288:p.Gly100Glu						p.G100E	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1184	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	100					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.299G>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783118	0.70222	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.71634	0.3363	M	0.87180	2.865	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.77094	-0.2715	10	0.59425	D	0.04	-10.3987	16.5743	0.84633	0.0:1.0:0.0:0.0	.	100	Q96PX8	SLIK1_HUMAN	E	100	ENSP00000366288:G100E	ENSP00000366288:G100E	G	-	2	0	SLITRK1	83353345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.477000	0.83638	0.561000	0.74099	GGG		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		36	56	0	0	0	1	0	36	56				
HEMK1	51409	broad.mit.edu	37	3	50617553	50617553	+	Silent	SNP	C	C	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr3:50617553C>A	ENST00000232854.4	+	10	1425	c.873C>A	c.(871-873)atC>atA	p.I291I	HEMK1_ENST00000455834.1_Silent_p.I291I|HEMK1_ENST00000434410.1_Silent_p.I291I	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	291					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GTAGTAGTATCTTCTTAGAAG	0.597																																						ENST00000232854.4																			0				lung(3)	3						c.(871-873)atC>atA		HemK methyltransferase family member 1							71.0	70.0	70.0					3																	50617553		2203	4300	6503	SO:0001819	synonymous_variant	51409				DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity	g.chr3:50617553C>A	AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.873C>A	3.37:g.50617553C>A						HEMK1_ENST00000434410.1_Silent_p.I291I|HEMK1_ENST00000455834.1_Silent_p.I291I	p.I291I	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)	10	1425	+			291						Silent	SNP	ENST00000232854.4	37	c.873C>A	CCDS2830.1																																																																																				0.597	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346231.1	NM_016173		3	40	1	0	0.115264	1	0.115264	3	40				
CORO7	79585	broad.mit.edu	37	16	4408410	4408410	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr16:4408410C>T	ENST00000251166.4	-	24	2560	c.2415G>A	c.(2413-2415)caG>caA	p.Q805Q	CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q|CORO7-PAM16_ENST00000572274.1_5'UTR|PAM16_ENST00000576217.1_5'Flank|CORO7_ENST00000537233.2_Silent_p.Q787Q|CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7_ENST00000539968.1_Silent_p.Q585Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	805					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCAGGGAGGACTGACGCAGCC	0.697																																						ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2413-2415)caG>caA		coronin 7							29.0	30.0	30.0					16																	4408410		2196	4295	6491	SO:0001819	synonymous_variant	79585							g.chr16:4408410C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2415G>A	16.37:g.4408410C>T						CORO7_ENST00000574025.1_Silent_p.Q720Q|CORO7_ENST00000539968.1_Silent_p.Q585Q|CORO7-PAM16_ENST00000572467.1_Silent_p.Q805Q|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000537233.2_Silent_p.Q787Q	p.Q805Q	NM_024535.4	NP_078811.3					24	2560	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.2415G>A	CCDS10513.1																																																																																				0.697	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		12	14	0	0	0	1	0	12	14				
TRHDE	29953	broad.mit.edu	37	12	73046874	73046874	+	Missense_Mutation	SNP	T	T	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr12:73046874T>A	ENST00000261180.4	+	17	2883	c.2787T>A	c.(2785-2787)aaT>aaA	p.N929K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	929					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGCTCGAAATCCACATGGTC	0.353																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2785-2787)aaT>aaA		thyrotropin-releasing hormone degrading enzyme							86.0	83.0	84.0					12																	73046874		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046874T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2787T>A	12.37:g.73046874T>A	ENSP00000261180:p.Asn929Lys						p.N929K	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			17	2883	+			929					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2787T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261817	0.80358	.	.	ENSG00000072657	ENST00000261180	T	0.06849	3.25	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04029	-1.0983	10	0.54805	T	0.06	.	9.9807	0.41811	0.0:0.0755:0.0:0.9245	.	929	Q9UKU6	TRHDE_HUMAN	K	929	ENSP00000261180:N929K	ENSP00000261180:N929K	N	+	3	2	TRHDE	71333141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.765000	0.55272	2.087000	0.62958	0.533000	0.62120	AAT		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		20	30	0	0	0	1	0	20	30				
PRG4	10216	broad.mit.edu	37	1	186281353	186281353	+	Silent	SNP	G	G	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:186281353G>A	ENST00000445192.2	+	11	3885	c.3840G>A	c.(3838-3840)aaG>aaA	p.K1280K	PRG4_ENST00000367484.3_Silent_p.K809K|PRG4_ENST00000367485.4_Silent_p.K1187K|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367483.4_Silent_p.K1239K|TPR_ENST00000367478.4_3'UTR|PRG4_ENST00000367486.3_Silent_p.K1237K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1280					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGTACAGAAGTGCCCTGGAA	0.398																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(3838-3840)aaG>aaA		proteoglycan 4							97.0	97.0	97.0					1																	186281353		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186281353G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3840G>A	1.37:g.186281353G>A						PRG4_ENST00000367483.4_Silent_p.K1239K|PRG4_ENST00000367484.3_Silent_p.K809K|PRG4_ENST00000367485.4_Silent_p.K1187K|PRG4_ENST00000367486.3_Silent_p.K1237K	p.K1280K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			11	3885	+			1280					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.3840G>A	CCDS1369.1																																																																																				0.398	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		34	46	0	0	0	1	0	34	46				
BAZ2B	29994	broad.mit.edu	37	2	160241839	160241839	+	Silent	SNP	C	C	T			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr2:160241839C>T	ENST00000392783.2	-	23	4008	c.3513G>A	c.(3511-3513)gtG>gtA	p.V1171V	BAZ2B_ENST00000355831.2_Silent_p.V1137V|BAZ2B_ENST00000392782.1_Silent_p.V1135V|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Silent_p.V1071V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTCTCGATTCACACCAACAT	0.368																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3511-3513)gtG>gtA		bromodomain adjacent to zinc finger domain, 2B							103.0	99.0	100.0					2																	160241839		1842	4082	5924	SO:0001819	synonymous_variant	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160241839C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3513G>A	2.37:g.160241839C>T						BAZ2B_ENST00000355831.2_Silent_p.V1137V|BAZ2B_ENST00000392782.1_Silent_p.V1135V|BAZ2B_ENST00000343439.5_Silent_p.V1071V	p.V1171V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			23	4008	-			1171					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Silent	SNP	ENST00000392783.2	37	c.3513G>A	CCDS2209.2																																																																																				0.368	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			32	22	0	0	0	1	0	32	22				
TGDS	23483	broad.mit.edu	37	13	95235377	95235377	+	Missense_Mutation	SNP	C	C	T			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:95235377C>T	ENST00000261296.5	-	5	547	c.427G>A	c.(427-429)Gat>Aat	p.D143N	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	143					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TATACTTCATCTGTGCTGACA	0.373																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(427-429)Gat>Aat		TDP-glucose 4,6-dehydratase							150.0	139.0	142.0					13																	95235377		2203	4300	6503	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95235377C>T	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.427G>A	13.37:g.95235377C>T	ENSP00000261296:p.Asp143Asn					TGDS_ENST00000498294.1_5'UTR	p.D143N	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			5	547	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		143					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.427G>A	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127495	0.94473	.	.	ENSG00000088451	ENST00000261296	D	0.93659	-3.26	5.76	5.76	0.90799	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.107609	0.64402	D	0.000007	D	0.98128	0.9382	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98623	1.0668	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	143	O95455	TGDS_HUMAN	N	143	ENSP00000261296:D143N	ENSP00000261296:D143N	D	-	1	0	TGDS	94033378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.947000	0.70242	2.882000	0.98803	0.655000	0.94253	GAT		0.373	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		31	39	0	0	0	1	0	31	39				
ERAP2	64167	broad.mit.edu	37	5	96232453	96232453	+	Silent	SNP	T	T	C			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr5:96232453T>C	ENST00000437043.3	+	9	2100	c.1389T>C	c.(1387-1389)aaT>aaC	p.N463N	ERAP2_ENST00000379904.4_Silent_p.N418N|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	463					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GTATTTTGAATATGCTCAAGG	0.303																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1387-1389)aaT>aaC		endoplasmic reticulum aminopeptidase 2							53.0	60.0	58.0					5																	96232453		2195	4298	6493	SO:0001819	synonymous_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96232453T>C	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1389T>C	5.37:g.96232453T>C						ERAP2_ENST00000379904.4_Silent_p.N418N|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	p.N463N	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	9	2100	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	463					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Silent	SNP	ENST00000437043.3	37	c.1389T>C	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	8.548	0.874811	0.17395	.	.	ENSG00000164308	ENST00000508077	.	.	.	4.95	1.15	0.20763	.	.	.	.	.	T	0.45577	0.1349	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26052	-1.0114	4	.	.	.	.	3.7685	0.08632	0.1571:0.2433:0.0:0.5996	.	.	.	.	H	126	.	.	Y	+	1	0	ERAP2	96258209	0.975000	0.34042	0.917000	0.36280	0.995000	0.86356	0.064000	0.14437	0.307000	0.22880	0.460000	0.39030	TAT		0.303	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		41	72	0	0	0	1	0	41	72				
FKBP9	11328	broad.mit.edu	37	7	33020059	33020059	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr7:33020059G>C	ENST00000242209.4	+	5	956	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	263					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CATTTCCATTGAGAACAAGGT	0.468																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(787-789)Gag>Cag		FK506 binding protein 9, 63 kDa							150.0	140.0	144.0					7																	33020059		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33020059G>C	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.787G>C	7.37:g.33020059G>C	ENSP00000242209:p.Glu263Gln					FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q	p.E263Q	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		5	956	+			263					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.787G>C	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581244	0.46006	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.55588	0.51;0.82;0.51;0.91;0.91	5.06	5.06	0.68205	.	0.113216	0.64402	D	0.000012	T	0.58850	0.2151	M	0.62088	1.915	0.47183	D	0.999348	P;P;B;P	0.43885	0.454;0.82;0.386;0.745	B;P;B;B	0.47626	0.079;0.552;0.175;0.28	T	0.54984	-0.8211	10	0.20046	T	0.44	-12.2962	18.4263	0.90610	0.0:0.0:1.0:0.0	.	31;316;263;263	B7Z1G9;B7Z6H3;O95302;B3KQQ0	.;.;FKBP9_HUMAN;.	Q	263;316;125;31;31	ENSP00000242209:E263Q;ENSP00000439250:E316Q;ENSP00000437504:E125Q;ENSP00000391034:E31Q;ENSP00000441317:E31Q	ENSP00000242209:E263Q	E	+	1	0	FKBP9	32986584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	2.362000	0.80069	0.650000	0.86243	GAG		0.468	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		44	70	0	0	0	1	0	44	70				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	19	0	0	0	1	0	3	19				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			80862							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	52	0	0	0	1	0	3	52				
HMGCS2	3158	broad.mit.edu	37	1	120302591	120302591	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr1:120302591C>A	ENST00000369406.3	-	3	630	c.581G>T	c.(580-582)tGt>tTt	p.C194F	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	194					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AATGTCTCCACAGACCACCAT	0.522																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(580-582)tGt>tTt		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							54.0	52.0	53.0					1																	120302591		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120302591C>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.581G>T	1.37:g.120302591C>A	ENSP00000358414:p.Cys194Phe					HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	p.C194F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	3	630	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	194					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.581G>T	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669608	0.67814	.	.	ENSG00000134240	ENST00000369406	D	0.89196	-2.48	5.25	5.25	0.73442	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000001	D	0.90331	0.6975	M	0.90759	3.145	0.80722	D	1	P	0.46277	0.875	P	0.46076	0.503	D	0.92368	0.5903	10	0.87932	D	0	-11.738	13.2011	0.59769	0.0:0.8398:0.1602:0.0	.	194	P54868	HMCS2_HUMAN	F	194	ENSP00000358414:C194F	ENSP00000358414:C194F	C	-	2	0	HMGCS2	120104114	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.987000	0.63857	2.453000	0.82957	0.400000	0.26472	TGT		0.522	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		11	4	1	0	1.33987e-11	1	1.52596e-11	11	4				
UGT2B10	7365	broad.mit.edu	37	4	69683800	69683800	+	Nonsense_Mutation	SNP	C	C	T	rs186814479	byFrequency	TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr4:69683800C>T	ENST00000265403.7	+	2	799	c.772C>T	c.(772-774)Cga>Tga	p.R258*	UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.R174*	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	258					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGGCTTATGCGAAACTCCTG	0.383													c|||	2	0.000399361	0.0015	0.0	5008	,	,		16266	0.0		0.0	False		,,,				2504	0.0				Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(772-774)Cga>Tga		UDP glucuronosyltransferase 2 family, polypeptide B10							134.0	138.0	137.0					4																	69683800		2203	4299	6502	SO:0001587	stop_gained	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69683800C>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.772C>T	4.37:g.69683800C>T	ENSP00000265403:p.Arg258*					UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.R174*	p.R258*	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			2	799	+			258					A8K9M3|B4DPP1|Q14CR8	Nonsense_Mutation	SNP	ENST00000265403.7	37	c.772C>T		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	13.40	2.226519	0.39300	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	.	.	.	2.66	1.78	0.24846	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4283	0.27113	0.0:0.8564:0.0:0.1436	.	.	.	.	X	258;174	.	ENSP00000265403:R258X	R	+	1	2	UGT2B10	69718389	0.623000	0.27094	0.002000	0.10522	0.011000	0.07611	0.086000	0.14935	0.298000	0.22638	0.184000	0.17185	CGA		0.383	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		39	96	0	0	0	1	0	39	96				
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	3						4	3	---	---	---	---
YY1	7528	broad.mit.edu	37	14	100705708	100705710	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr14:100705708_100705710delGAG	ENST00000262238.4	+	1	387_389	c.127_129delGAG	c.(127-129)gagdel	p.E47del	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	47	Asp/Glu-rich (acidic).|Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E43delE(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AGTggtgggcgaggaggaggagg	0.719																																						ENST00000262238.4																			1	Deletion - In frame(1)	p.E43delE(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(127-129)del		YY1 transcription factor				381,3745		7,367,1689						1.4	0.5			18	569,7489		8,553,3468	no	coding	YY1	NM_003403.3		15,920,5157	A1A1,A1R,RR		7.0613,9.2341,7.7971				950,11234				SO:0001651	inframe_deletion	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100705708_100705710delGAG	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.127_129delGAG	14.37:g.100705717_100705719delGAG	ENSP00000262238:p.Glu47del						p.E47del	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	387_389	+		Melanoma(154;0.152)	47			Asp/Glu-rich (acidic).		Q14935	In_Frame_Del	DEL	ENST00000262238.4	37	c.127_129delGAG	CCDS9957.1																																																																																				0.719	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		3	6						3	6	---	---	---	---
CABP7	164633	broad.mit.edu	37	22	30116468	30116468	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chr22:30116468delC	ENST00000216144.3	+	1	396	c.55delC	c.(55-57)cccfs	p.P19fs	RP1-76B20.11_ENST00000416352.1_RNA|RP1-76B20.12_ENST00000420180.1_RNA|RP1-76B20.11_ENST00000451180.1_RNA	NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			CTACACCGTGCCCAACCTGCT	0.716																																						ENST00000216144.3																			0				lung(1)|skin(3)	4						c.(55-57)ccfs		calcium binding protein 7							21.0	21.0	21.0					22																	30116468		2190	4287	6477	SO:0001589	frameshift_variant	164633					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr22:30116468delC	BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"""EF-hand domain containing"""	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.55delC	22.37:g.30116468delC	ENSP00000216144:p.Pro19fs						p.P19fs	NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)		1	396	+			19						Frame_Shift_Del	DEL	ENST00000216144.3	37	c.55delC	CCDS13867.1																																																																																				0.716	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937573	76937573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SR-A6MX-05A-11D-A35I-08	TCGA-SR-A6MX-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e49fe468-5374-441d-a537-5cdb85c4818e	99e20de7-1106-4a42-a936-dfcc7017ed47	g.chrX:76937573delC	ENST00000373344.5	-	9	3389	c.3175delG	c.(3175-3177)gaafs	p.E1059fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.E1021fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1059					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAGATAATTCATCCTTCTTT	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3175-3177)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						98.0	110.0	106.0					X																	76937573		2203	4285	6488	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937573delC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3175delG	X.37:g.76937573delC	ENSP00000362441:p.Glu1059fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.E1021fs	p.E1059fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3389	-			1059					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3175delG	CCDS14434.1																																																																																				0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		101	38						101	38	---	---	---	---
