#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
ADAM21P1	145241	broad.mit.edu	37	14	70714144	70714144	+	RNA	SNP	A	A	G	rs111296958		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:70714144A>G	ENST00000530196.1	-	0	374					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AGAGCTTCTTAACCCTCATAT	0.502																																						ENST00000530196.1																			0																																																			0							g.chr14:70714144A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714144A>G								NR_003951.1						0	374	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.502	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		3	70	0	0	0	1	0	3	70				
ARSK	153642	broad.mit.edu	37	5	94927146	94927146	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr5:94927146A>G	ENST00000380009.4	+	6	1118	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	305					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTTCTTCAGAAAACTATTGT	0.368																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(913-915)Aaa>Gaa		arylsulfatase family, member K							122.0	129.0	126.0					5																	94927146		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94927146A>G		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.913A>G	5.37:g.94927146A>G	ENSP00000369346:p.Lys305Glu						p.K305E	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	6	1118	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	305					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.913A>G	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728680	0.30593	.	.	ENSG00000164291	ENST00000380009	D	0.99887	-7.53	5.74	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.232106	0.50627	N	0.000102	D	0.99336	0.9767	L	0.39147	1.195	0.80722	D	1	B	0.13594	0.008	B	0.20955	0.032	D	0.99970	1.1987	10	0.45353	T	0.12	-6.5041	11.5279	0.50591	0.9304:0.0:0.0696:0.0	.	305	Q6UWY0	ARSK_HUMAN	E	305	ENSP00000369346:K305E	ENSP00000369346:K305E	K	+	1	0	ARSK	94952902	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	4.245000	0.58734	1.019000	0.39547	0.533000	0.62120	AAA		0.368	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		9	74	0	0	0	1	0	9	74				
COL12A1	1303	broad.mit.edu	37	6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T	rs201408175		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15140	0.0		0.0	False		,,,				2504	0.0					ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5467-5469)Gta>Ata		collagen, type XII, alpha 1		C	ILE/VAL,ILE/VAL	0,3924		0,0,1962	134.0	136.0	135.0		5467,1975	5.0	0.9	6		135	3,8305		0,3,4151	yes	missense,missense	COL12A1	NM_004370.5,NM_080645.2	29,29	0,3,6113	TT,TC,CC		0.0361,0.0,0.0245	possibly-damaging,possibly-damaging	1823/3064,659/1900	75844499	3,12229	1962	4154	6116	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75844499C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5467G>A	6.37:g.75844499C>T	ENSP00000325146:p.Val1823Ile					COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I	p.V1823I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			32	5776	-			1823			Fibronectin type-III 13.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5467G>A	CCDS43482.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	23.7|23.7	4.444654|4.444654	0.83993|0.83993	0.0|0.0	3.61E-4|3.61E-4	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51	5.87|5.87	5.0|5.0	0.66597|0.66597	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.73410|0.73410	0.3583|0.3583	L|L	0.52905|0.52905	1.665|1.665	0.42919|0.42919	D|D	0.994285|0.994285	.|D;D	.|0.76494	.|0.997;0.999	.|P;P	.|0.60541	.|0.779;0.876	T|T	0.76033|0.76033	-0.3107|-0.3107	5|10	.|0.49607	.|T	.|0.09	.|.	17.0718|17.0718	0.86576|0.86576	0.0:0.873:0.127:0.0|0.0:0.873:0.127:0.0	.|.	.|659;1823	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	H|I	557|1823;1823;659;1823;1823	.|ENSP00000325146:V1823I;ENSP00000305147:V659I;ENSP00000412864:V1823I;ENSP00000421216:V1823I	.|ENSP00000325146:V1823I	R|V	-|-	2|1	0|0	COL12A1|COL12A1	75901219|75901219	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.551000|0.551000	0.35334|0.35334	7.294000|7.294000	0.78760|0.78760	1.472000|1.472000	0.48140|0.48140	0.650000|0.650000	0.86243|0.86243	CGT|GTA		0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		28	30	0	0	0	1	0	28	30				
DUSP27	92235	broad.mit.edu	37	1	167095078	167095078	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:167095078T>C	ENST00000361200.2	+	6	876	c.710T>C	c.(709-711)gTc>gCc	p.V237A	DUSP27_ENST00000443333.1_Missense_Mutation_p.V237A|DUSP27_ENST00000271385.5_Missense_Mutation_p.V237A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	237	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGCTGGTGGTCGCCTACCTG	0.527																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(709-711)gTc>gCc		dual specificity phosphatase 27 (putative)							92.0	77.0	82.0					1																	167095078		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095078T>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.710T>C	1.37:g.167095078T>C	ENSP00000354483:p.Val237Ala					DUSP27_ENST00000271385.5_Missense_Mutation_p.V237A|DUSP27_ENST00000443333.1_Missense_Mutation_p.V237A	p.V237A			Q5VZP5	DUS27_HUMAN			6	876	+			237			Tyrosine-protein phosphatase.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.710T>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	T	6.562	0.471968	0.12461	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.57436	0.4;0.4;0.4	5.55	-0.676	0.11361	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.391390	0.26328	N	0.025008	T	0.08223	0.0205	N	0.03930	-0.32	0.32658	N	0.518494	B	0.06786	0.001	B	0.12156	0.007	T	0.34428	-0.9829	10	0.06625	T	0.88	-15.8119	12.3376	0.55075	0.0:0.6025:0.0:0.3975	.	237	Q5VZP5	DUS27_HUMAN	A	237	ENSP00000354483:V237A;ENSP00000271385:V237A;ENSP00000404874:V237A	ENSP00000271385:V237A	V	+	2	0	DUSP27	165361702	0.968000	0.33430	0.047000	0.18901	0.903000	0.53119	2.167000	0.42415	-0.386000	0.07821	0.523000	0.50628	GTC		0.527	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		4	26	0	0	0	1	0	4	26				
SYNE1	23345	broad.mit.edu	37	6	152652511	152652511	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:152652511G>A	ENST00000367255.5	-	78	13910	c.13309C>T	c.(13309-13311)Ctc>Ttc	p.L4437F	SYNE1_ENST00000448038.1_Missense_Mutation_p.L4366F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4302F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4437F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4366F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4437					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGTCACTGAGACAATTCACG	0.493										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13309-13311)Ctc>Ttc		spectrin repeat containing, nuclear envelope 1							100.0	92.0	95.0					6																	152652511		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652511G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13309C>T	6.37:g.152652511G>A	ENSP00000356224:p.Leu4437Phe	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.L4302F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4366F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4437F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L4366F	p.L4437F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13910	-		Ovarian(120;0.0955)	4437					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13309C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568582	0.45798	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000042	T	0.71492	0.3346	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.68375	-0.5425	10	0.44086	T	0.13	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	4437;4437;4437;4366	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	4437;4366;4437;4366;4302	ENSP00000356224:L4437F;ENSP00000396024:L4366F;ENSP00000265368:L4437F;ENSP00000390975:L4366F;ENSP00000341887:L4302F	ENSP00000265368:L4437F	L	-	1	0	SYNE1	152694204	1.000000	0.71417	0.970000	0.41538	0.963000	0.63663	4.513000	0.60476	2.760000	0.94817	0.655000	0.94253	CTC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	34	0	0	0	1	0	17	34				
ARHGAP36	158763	broad.mit.edu	37	X	130220336	130220336	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R439C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTTGCTAAGCGCGTGTGGAA	0.453																																						ENST00000276211.5																			1	Substitution - Missense(1)	p.R439C(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1315-1317)Cgc>Tgc		Rho GTPase activating protein 36							100.0	91.0	94.0					X																	130220336		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220336C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1315C>T	X.37:g.130220336C>T	ENSP00000276211:p.Arg439Cys					ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C	p.R439C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1660	+			439					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1315C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662549	0.29515	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10860	2.83;2.83;2.84;2.86	4.69	2.74	0.32292	.	0.000000	0.45126	D	0.000397	T	0.12433	0.0302	N	0.08118	0	0.43430	D	0.995599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.948	T	0.15150	-1.0447	10	0.51188	T	0.08	.	8.361	0.32359	0.4276:0.5724:0.0:0.0	.	408;427;439	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	439;427;408;303	ENSP00000276211:R439C;ENSP00000359960:R427C;ENSP00000408515:R408C;ENSP00000359959:R303C	ENSP00000276211:R439C	R	+	1	0	ARHGAP36	130048017	0.993000	0.37304	0.999000	0.59377	0.117000	0.20001	0.628000	0.24522	1.059000	0.40554	0.600000	0.82982	CGC		0.453	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		31	44	0	0	0	1	0	31	44				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			9	27	0	0	0	1	0	9	27				
KCTD5	54442	broad.mit.edu	37	16	2747985	2747985	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:2747985G>A	ENST00000301738.4	+	3	514	c.440G>A	c.(439-441)aGc>aAc	p.S147N	KCTD5_ENST00000564195.1_Intron	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	147					protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAACGAGACAGCAAAACATCG	0.438																																					Ovarian(56;981 1456 4301 50892)	ENST00000301738.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(439-441)aGc>aAc		potassium channel tetramerization domain containing 5							105.0	93.0	97.0					16																	2747985		2198	4300	6498	SO:0001583	missense	54442				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr16:2747985G>A	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.440G>A	16.37:g.2747985G>A	ENSP00000301738:p.Ser147Asn					KCTD5_ENST00000564195.1_Intron	p.S147N	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN			3	514	+			147					D3DU96	Missense_Mutation	SNP	ENST00000301738.4	37	c.440G>A	CCDS10475.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712010	0.30322	.	.	ENSG00000167977	ENST00000301738	T	0.43688	0.94	3.85	3.85	0.44370	BTB/POZ fold (2);	0.046281	0.85682	D	0.000000	T	0.23330	0.0564	N	0.12471	0.22	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06267	-1.0836	10	0.11794	T	0.64	-29.2083	13.6348	0.62217	0.0:0.0:1.0:0.0	.	147	Q9NXV2	KCTD5_HUMAN	N	147	ENSP00000301738:S147N	ENSP00000301738:S147N	S	+	2	0	KCTD5	2687986	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.602000	0.67612	1.870000	0.54199	0.561000	0.74099	AGC		0.438	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992		3	49	0	0	0	1	0	3	49				
RAVER2	55225	broad.mit.edu	37	1	65272951	65272951	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:65272951C>A	ENST00000294428.3	+	9	1552	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T	RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.P479T			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	492						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCATTCTTTCCAAATCAGCA	0.463																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1474-1476)Cca>Aca		ribonucleoprotein, PTB-binding 2							47.0	45.0	46.0					1																	65272951		1933	4150	6083	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65272951C>A	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1474C>A	1.37:g.65272951C>A	ENSP00000294428:p.Pro492Thr					RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.P479T	p.P492T			Q9HCJ3	RAVR2_HUMAN			9	1552	+			492					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1474C>A		.	.	.	.	.	.	.	.	.	.	C	8.271	0.813295	0.16537	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.34667	1.38;1.35	5.21	2.27	0.28462	.	0.307850	0.32868	N	0.005551	T	0.14570	0.0352	L	0.48642	1.525	0.80722	D	1	B	0.23377	0.084	B	0.21917	0.037	T	0.05632	-1.0873	10	0.72032	D	0.01	-2.8121	7.2258	0.26014	0.0:0.7069:0.139:0.1541	.	479	Q9HCJ3-2	.	T	479;492	ENSP00000360112:P479T;ENSP00000294428:P492T	ENSP00000294428:P492T	P	+	1	0	RAVER2	65045539	0.680000	0.27605	0.955000	0.39395	0.221000	0.24807	0.235000	0.17948	0.196000	0.20367	-0.169000	0.13324	CCA		0.463	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		3	18	1	0	2.56e-06	1	2.62244e-06	3	18				
ZXDB	158586	broad.mit.edu	37	X	57618946	57618946	+	Silent	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:57618946G>A	ENST00000374888.1	+	1	678	c.465G>A	c.(463-465)ccG>ccA	p.P155P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ctccggccccgatctccgccc	0.741																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(463-465)ccG>ccA		zinc finger, X-linked, duplicated B							4.0	6.0	5.0					X																	57618946		1888	3698	5586	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618946G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.465G>A	X.37:g.57618946G>A							p.P155P	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	678	+			155					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.465G>A	CCDS35313.1																																																																																				0.741	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	6	0	0	0	1	0	4	6				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	157	0	0	0	1	0	4	157				
SLC9A2	6549	broad.mit.edu	37	2	103274268	103274268	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:103274268T>C	ENST00000233969.2	+	2	677	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	179					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGGACACTTTGGAATTCCAT	0.517																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(535-537)Tgg>Cgg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							322.0	303.0	310.0					2																	103274268		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274268T>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.535T>C	2.37:g.103274268T>C	ENSP00000233969:p.Trp179Arg						p.W179R	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			2	677	+			179					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.535T>C	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390024	0.82902	.	.	ENSG00000115616	ENST00000233969	T	0.15603	2.41	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.49847	0.1581	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58451	-0.7634	10	0.72032	D	0.01	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	179	Q9UBY0	SL9A2_HUMAN	R	179	ENSP00000233969:W179R	ENSP00000233969:W179R	W	+	1	0	SLC9A2	102640700	1.000000	0.71417	0.934000	0.37439	0.969000	0.65631	8.033000	0.88852	2.265000	0.75225	0.533000	0.62120	TGG		0.517	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			6	201	0	0	0	1	0	6	201				
SYT1	6857	broad.mit.edu	37	12	79837981	79837981	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr12:79837981A>G	ENST00000261205.4	+	10	1714	c.1057A>G	c.(1057-1059)Atc>Gtc	p.I353V	RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Missense_Mutation_p.I353V|SYT1_ENST00000457153.2_Missense_Mutation_p.I350V|SYT1_ENST00000552744.1_Missense_Mutation_p.I353V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	353	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TTTTGAACAAATCCAGGTAAT	0.358																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(1057-1059)Atc>Gtc		synaptotagmin I							172.0	158.0	163.0					12																	79837981		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79837981A>G		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.1057A>G	12.37:g.79837981A>G	ENSP00000261205:p.Ile353Val					SYT1_ENST00000552744.1_Missense_Mutation_p.I353V|SYT1_ENST00000393240.3_Missense_Mutation_p.I353V|SYT1_ENST00000457153.2_Missense_Mutation_p.I350V|RP1-78O14.1_ENST00000550268.1_lincRNA	p.I353V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			10	1714	+			353			C2 2.|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.1057A>G	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170569	0.57584	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.17922	0.545	0.80722	D	1	B;B	0.27380	0.177;0.177	B;B	0.24541	0.054;0.054	T	0.55263	-0.8168	10	0.35671	T	0.21	.	15.9526	0.79855	1.0:0.0:0.0:0.0	.	353;353	Q6AI31;P21579	.;SYT1_HUMAN	V	353;353;350;353	ENSP00000376932:I353V;ENSP00000261205:I353V;ENSP00000391056:I350V;ENSP00000447575:I353V	ENSP00000261205:I353V	I	+	1	0	SYT1	78362112	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.168000	0.68352	0.533000	0.62120	ATC		0.358	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		51	74	0	0	0	1	0	51	74				
MAU2	23383	broad.mit.edu	37	19	19458135	19458135	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:19458135C>T	ENST00000392313.6	+	13	1447	c.1268C>T	c.(1267-1269)gCg>gTg	p.A423V	MAU2_ENST00000262815.8_Missense_Mutation_p.A423V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	423					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						ACCAACCTGGCGAGTGTGTAT	0.537																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1267-1269)gCg>gTg		MAU2 sister chromatid cohesion factor							152.0	129.0	137.0					19																	19458135		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19458135C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1268C>T	19.37:g.19458135C>T	ENSP00000376127:p.Ala423Val					MAU2_ENST00000262815.8_Missense_Mutation_p.A423V	p.A423V	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			13	1314	+			423					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1268C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	35	5.582767	0.96578	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.72615	-0.67;-0.67	5.18	5.18	0.71444	.	0.000000	0.85682	U	0.000000	T	0.78489	0.4291	L	0.52126	1.63	0.80722	D	1	D;D	0.71674	0.998;0.99	P;P	0.60345	0.873;0.81	T	0.79050	-0.1962	10	0.49607	T	0.09	.	17.2557	0.87056	0.0:1.0:0.0:0.0	.	29;423	Q9Y6X3-2;Q9Y6X3	.;SCC4_HUMAN	V	423	ENSP00000376127:A423V;ENSP00000262815:A423V	ENSP00000262815:A423V	A	+	2	0	MAU2	19319135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.520000	0.81821	2.422000	0.82143	0.655000	0.94253	GCG		0.537	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		17	33	0	0	0	1	0	17	33				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	54	0	0	0	1	0	5	54				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	12	0	0	0	1	0	3	12				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000567960.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																0							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000564451.1_RNA								0	314	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	28	0	0	0	1	0	6	28				
GRIN3B	116444	broad.mit.edu	37	19	1005263	1005263	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:1005263C>T	ENST00000234389.3	+	3	1782	c.1763C>T	c.(1762-1764)aCc>aTc	p.T588I	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	588					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGCACCTCACCGCGCTCTTC	0.662																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1762-1764)aCc>aTc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						70.0	63.0	65.0					19																	1005263		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005263C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1763C>T	19.37:g.1005263C>T	ENSP00000234389:p.Thr588Ile					GRIN3B_ENST00000588335.1_3'UTR	p.T588I	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1782	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	588					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1763C>T	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701299	0.48307	.	.	ENSG00000116032	ENST00000234389	T	0.53857	0.6	4.53	4.53	0.55603	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.76574	2.34	0.43603	D	0.995965	D	0.89917	1.0	D	0.91635	0.999	T	0.74844	-0.3526	10	0.51188	T	0.08	.	15.8728	0.79136	0.0:1.0:0.0:0.0	.	588	O60391	NMD3B_HUMAN	I	588	ENSP00000234389:T588I	ENSP00000234389:T588I	T	+	2	0	GRIN3B	956263	0.999000	0.42202	0.995000	0.50966	0.145000	0.21501	3.973000	0.56845	2.100000	0.63781	0.485000	0.47835	ACC		0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			22	25	0	0	0	1	0	22	25				
MARVELD3	91862	broad.mit.edu	37	16	71668160	71668160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:71668160C>A	ENST00000268485.3	+	3	704	c.660C>A	c.(658-660)taC>taA	p.Y220*	MARVELD3_ENST00000567501.1_Missense_Mutation_p.Q34K|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	220	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGTGTCTTACAGTTCCACAG	0.532																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(658-660)taC>taA		MARVEL domain containing 3							88.0	90.0	89.0					16																	71668160		2198	4300	6498	SO:0001587	stop_gained	91862					integral to membrane		g.chr16:71668160C>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.660C>A	16.37:g.71668160C>A	ENSP00000268485:p.Tyr220*					MARVELD3_ENST00000567501.1_Missense_Mutation_p.Q34K|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	p.Y220*	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN			3	704	+		Ovarian(137;0.125)	220			MARVEL.		A8K820|H3BQM5|Q96MJ4	Nonsense_Mutation	SNP	ENST00000268485.3	37	c.660C>A	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518671	0.85495	.	.	ENSG00000140832	ENST00000268485	.	.	.	5.91	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.26031	N	0.981744	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3652	0.66801	0.0:0.9294:0.0:0.0706	.	.	.	.	X	220	.	ENSP00000268485:Y220X	Y	+	3	2	MARVELD3	70225661	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	4.040000	0.57333	1.500000	0.48636	0.655000	0.94253	TAC		0.532	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		43	55	1	0	7.05121e-23	1	7.40377e-23	43	55				
TFAP2C	7022	broad.mit.edu	37	20	55211767	55211767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr20:55211767C>T	ENST00000201031.2	+	6	1267	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TFAP2C_ENST00000544508.1_Nonsense_Mutation_p.R173*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	342	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCTTGGAGGACGAAATGAGAT	0.443																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1024-1026)Cga>Tga		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							140.0	120.0	127.0					20																	55211767		2203	4300	6503	SO:0001587	stop_gained	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55211767C>T		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1024C>T	20.37:g.55211767C>T	ENSP00000201031:p.Arg342*					TFAP2C_ENST00000544508.1_Nonsense_Mutation_p.R173*	p.R342*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		6	1267	+			342			H-S-H (helix-span-helix), dimerization.		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Nonsense_Mutation	SNP	ENST00000201031.2	37	c.1024C>T	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	41	8.951849	0.99014	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	.	.	.	5.6	2.5	0.30297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-23.6278	9.7107	0.40243	0.2511:0.6831:0.0:0.0658	.	.	.	.	X	342;173	.	ENSP00000201031:R342X	R	+	1	2	TFAP2C	54645174	0.998000	0.40836	0.041000	0.18516	0.841000	0.47740	3.648000	0.54410	0.721000	0.32231	0.591000	0.81541	CGA		0.443	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		25	32	0	0	0	1	0	25	32				
ANO9	338440	broad.mit.edu	37	11	429619	429619	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	289					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(865-867)cGc>cAc		anoctamin 9							38.0	36.0	36.0					11																	429619		2196	4285	6481	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:429619C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.866G>A	11.37:g.429619C>T	ENSP00000332788:p.Arg289His						p.R289H	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			11	950	-			289					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.866G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653598	0.67472	.	.	ENSG00000185101	ENST00000332826	T	0.63580	-0.05	4.29	2.37	0.29283	.	0.079666	0.48767	D	0.000164	T	0.70988	0.3287	M	0.62266	1.93	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.60939	-0.7163	10	0.62326	D	0.03	.	9.6829	0.40080	0.0:0.828:0.0:0.172	.	289	A1A5B4	ANO9_HUMAN	H	289	ENSP00000332788:R289H	ENSP00000332788:R289H	R	-	2	0	ANO9	419619	0.974000	0.33945	0.634000	0.29324	0.448000	0.32197	2.962000	0.49176	0.935000	0.37341	0.550000	0.68814	CGC		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		18	55	0	0	0	1	0	18	55				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			21	32	0	0	0	1	0	21	32				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	22	0	0	0	1	0	4	22				
NUFIP1	26747	broad.mit.edu	37	13	45517620	45517620	+	Missense_Mutation	SNP	G	G	A	rs115794259	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr13:45517620G>A	ENST00000379161.4	-	9	1374	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	443					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TTCGAATAACGTTTGATAGTT	0.333													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18381	0.0		0.0	False		,,,				2504	0.0					ENST00000379161.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(1327-1329)aCg>aTg		nuclear fragile X mental retardation protein interacting protein 1		G	MET/THR	6,4400	11.4+/-27.6	0,6,2197	135.0	137.0	136.0		1328	3.2	0.0	13	dbSNP_132	136	0,8600		0,0,4300	yes	missense	NUFIP1	NM_012345.2	81	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	possibly-damaging	443/496	45517620	6,13000	2203	4300	6503	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45517620G>A	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1328C>T	13.37:g.45517620G>A	ENSP00000368459:p.Thr443Met						p.T443M	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	9	1374	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	443					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.1328C>T	CCDS9393.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	12.05	1.821302	0.32237	0.001362	0.0	ENSG00000083635	ENST00000379161	T	0.46819	0.86	5.97	3.2	0.36748	.	0.613533	0.18290	N	0.145741	T	0.52789	0.1756	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	P	0.50490	0.642	T	0.46289	-0.9202	10	0.46703	T	0.11	.	12.1177	0.53873	0.0:0.0:0.5475:0.4525	.	443	Q9UHK0	NUFP1_HUMAN	M	443	ENSP00000368459:T443M	ENSP00000368459:T443M	T	-	2	0	NUFIP1	44415620	0.511000	0.26179	0.014000	0.15608	0.580000	0.36256	2.227000	0.42972	0.376000	0.24707	0.537000	0.68136	ACG		0.333	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345		25	80	0	0	0	1	0	25	80				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	54	0	0	0	1	0	5	54				
VSIG1	340547	broad.mit.edu	37	X	107288369	107288369	+	Silent	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:107288369C>T	ENST00000217957.5	+	1	126	c.9C>T	c.(7-9)ttC>ttT	p.F3F	VSIG1_ENST00000415430.3_Silent_p.F3F	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	3						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAATGGTGTTCGCATTTTGGA	0.448																																						ENST00000415430.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(7-9)ttC>ttT		V-set and immunoglobulin domain containing 1							116.0	75.0	89.0					X																	107288369		2203	4300	6503	SO:0001819	synonymous_variant	340547					integral to membrane		g.chrX:107288369C>T	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.9C>T	X.37:g.107288369C>T						VSIG1_ENST00000217957.5_Silent_p.F3F	p.F3F	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN			1	170	+			3					C9J4P2|Q6MZS4	Silent	SNP	ENST00000217957.5	37	c.9C>T	CCDS14535.1																																																																																				0.448	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		3	13	0	0	0	1	0	3	13				
MED12L	116931	broad.mit.edu	37	3	151129236	151129236	+	Silent	SNP	G	G	A	rs200135596		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr3:151129236G>A	ENST00000474524.1	+	39	6014	c.5976G>A	c.(5974-5976)ccG>ccA	p.P1992P	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1992	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGCAGCCGAGTGGCTATG	0.542																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5974-5976)ccG>ccA		mediator complex subunit 12-like							83.0	83.0	83.0					3																	151129236		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129236G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5976G>A	3.37:g.151129236G>A						MED12L_ENST00000273432.4_Intron	p.P1992P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	6014	+			1992			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5976G>A	CCDS33876.1																																																																																				0.542	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		29	54	0	0	0	1	0	29	54				
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:42799051G>A	ENST00000575354.2	+	20	4575	c.4535G>A	c.(4534-4536)cGt>cAt	p.R1512H	CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000572681.2_Missense_Mutation_p.R2418H	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7252-7254)cGt>cAt		capicua transcriptional repressor							51.0	51.0	51.0					19																	42799051		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799051G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4535G>A	19.37:g.42799051G>A	ENSP00000458663:p.Arg1512His					CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H	p.R2418H			Q96RK0	CIC_HUMAN			21	7321	+		Prostate(69;0.00682)	1512					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7253G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529376	0.85706	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	T	0.65037	0.2653	L	0.29908	0.895	0.47009	D	0.999284	D	0.76494	0.999	D	0.74674	0.984	T	0.68911	-0.5284	8	0.87932	D	0	-6.0224	15.0527	0.71888	0.0:0.0:1.0:0.0	.	1512	Q96RK0	CIC_HUMAN	H	1512	.	ENSP00000160740:R1512H	R	+	2	0	CIC	47490891	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	8.215000	0.89762	2.513000	0.84729	0.491000	0.48974	CGT		0.627	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			32	11	0	0	0	1	0	32	11				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			9	29	0	0	0	1	0	9	29				
DNMT3A	1788	broad.mit.edu	37	2	25497832	25497832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:25497832C>T	ENST00000264709.3	-	6	954	c.617G>A	c.(616-618)tGg>tAg	p.W206*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W206*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	206	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGTGCCAGCCACTCGTCCCG	0.657			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(616-618)tGg>tAg		DNA (cytosine-5-)-methyltransferase 3 alpha							46.0	45.0	45.0					2																	25497832		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25497832C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.617G>A	2.37:g.25497832C>T	ENSP00000264709:p.Trp206*					DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W206*	p.W206*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			6	954	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		206			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.617G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	39	7.487739	0.98316	.	.	ENSG00000119772	ENST00000321117;ENST00000264709	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-7.0978	16.2234	0.82274	0.0:1.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000264709:W206X	W	-	2	0	DNMT3A	25351336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.185000	0.50934	2.428000	0.82296	0.561000	0.74099	TGG		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		16	13	0	0	0	1	0	16	13				
SERPINB3	6317	broad.mit.edu	37	18	61323094	61323094	+	Missense_Mutation	SNP	C	C	T	rs542903928		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr18:61323094C>T	ENST00000283752.5	-	8	1113	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	SERPINB3_ENST00000332821.8_Missense_Mutation_p.V272M|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	324					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCAGATAGCACGAGACCGCGG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18460	0.0		0.0	False		,,,				2504	0.0					ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(970-972)Gtg>Atg		serpin peptidase inhibitor, clade B (ovalbumin), member 3							130.0	118.0	122.0					18																	61323094		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323094C>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.970G>A	18.37:g.61323094C>T	ENSP00000283752:p.Val324Met					SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.V272M	p.V324M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			8	1113	-			324					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.970G>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	4.999	0.185522	0.09495	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.82893	-1.66;-1.66	2.91	-5.64	0.02466	Serpin domain (3);	5.454990	0.00357	N	0.000020	T	0.74726	0.3754	L	0.51422	1.61	0.09310	N	1	B;B	0.22003	0.063;0.018	B;B	0.27887	0.084;0.023	T	0.54814	-0.8237	10	0.36615	T	0.2	.	0.9508	0.01376	0.2201:0.3726:0.1474:0.26	.	272;324	P29508-2;P29508	.;SPB3_HUMAN	M	324;272	ENSP00000283752:V324M;ENSP00000329498:V272M	ENSP00000283752:V324M	V	-	1	0	SERPINB3	59474074	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.554000	0.00006	-1.494000	0.01833	-1.849000	0.00571	GTG		0.547	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		33	35	0	0	0	1	0	33	35				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	10	0	0	0	1	0	3	10				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	11	0	0	0	1	0	3	11				
CXCR1	3577	broad.mit.edu	37	2	219029665	219029665	+	Silent	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:219029665C>T	ENST00000295683.2	-	2	390	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	90					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	TGGGCAAGGTCAGGGCAAAGA	0.557																																						ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(268-270)ctG>ctA		chemokine (C-X-C motif) receptor 1							112.0	109.0	110.0					2																	219029665		2203	4300	6503	SO:0001819	synonymous_variant	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029665C>T	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.270G>A	2.37:g.219029665C>T							p.L90L	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	390	-			90					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	ENST00000295683.2	37	c.270G>A	CCDS2409.1																																																																																				0.557	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		4	73	0	0	0	1	0	4	73				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	21	0	0	0	1	0	6	21				
AMY2B	280	broad.mit.edu	37	1	104120221	104120221	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:104120221G>A	ENST00000361355.4	+	10	1827	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	404					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATCGATGGCGCCAAATAAGG	0.343																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(1210-1212)cGc>cAc		amylase, alpha 2B (pancreatic)							108.0	115.0	112.0					1																	104120221		2202	4293	6495	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104120221G>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1211G>A	1.37:g.104120221G>A	ENSP00000354610:p.Arg404His					AMY2B_ENST00000491397.1_Intron	p.R404H	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	10	1827	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	404					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1211G>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191398	0.58017	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.82	4.82	0.62117	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.75264	2.295	0.80722	D	1	P	0.42456	0.78	B	0.25987	0.065	T	0.58907	-0.7553	9	0.87932	D	0	.	14.3878	0.66958	0.0:0.1488:0.8512:0.0	.	404	P19961	AMY2B_HUMAN	H	404	.	ENSP00000354610:R404H	R	+	2	0	AMY2B	103921744	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.384000	0.73177	2.206000	0.71126	0.453000	0.30009	CGC		0.343	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		4	111	0	0	0	1	0	4	111				
SFXN5	94097	broad.mit.edu	37	2	73188272	73188272	+	Silent	SNP	C	C	T			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:73188272C>T	ENST00000272433.2	-	13	1063	c.933G>A	c.(931-933)ccG>ccA	p.P311P	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.R244H	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	311					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTGACATTTGCGGGAAGAGGC	0.637																																						ENST00000410065.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.(730-732)cGc>cAc		sideroflexin 5							17.0	19.0	19.0					2																	73188272		2198	4292	6490	SO:0001819	synonymous_variant	94097				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity	g.chr2:73188272C>T	AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.933G>A	2.37:g.73188272C>T						SFXN5_ENST00000272433.2_Silent_p.P311P|SFXN5_ENST00000474528.1_5'UTR	p.R244H			Q8TD22	SFXN5_HUMAN			11	749	-			0					A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	ENST00000272433.2	37	c.731G>A	CCDS1922.1	.	.	.	.	.	.	.	.	.	.	C	6.131	0.392412	0.11638	.	.	ENSG00000144040	ENST00000410065	T	0.53206	0.63	5.47	-10.3	0.00346	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	8	0.87932	D	0	-17.3628	9.1961	0.37228	0.0723:0.6114:0.1456:0.1707	.	244	B8ZZJ6	.	H	244	ENSP00000387076:R244H	ENSP00000387076:R244H	R	-	2	0	SFXN5	73041780	0.000000	0.05858	0.125000	0.21846	0.861000	0.49209	-3.065000	0.00621	-3.128000	0.00237	-1.936000	0.00505	CGC		0.637	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251991.1	NM_144579		3	14	0	0	0	1	0	3	14				
ARID1A	8289	broad.mit.edu	37	1	27057967	27057971	+	Frame_Shift_Del	DEL	CCTTA	CCTTA	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:27057967_27057971delCCTTA	ENST00000324856.7	+	3	2046_2050	c.1675_1679delCCTTA	c.(1675-1680)ccttacfs	p.PY559fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PY176fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PY559fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	559					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCTCAGTCTCCTTACCAGCAGCAG	0.634			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1675-1680)cfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057967_27057971delCCTTA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1675_1679delCCTTA	1.37:g.27057967_27057971delCCTTA	ENSP00000320485:p.Pro559fs					ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PY559fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PY176fs	p.PY559fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2046_2050	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	559					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1675_1679delCCTTA	CCDS285.1																																																																																				0.634	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		95	51						95	51	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253414	55253416	+	In_Frame_Del	DEL	AGG	AGG	-	rs201245422		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:55253414_55253416delAGG	ENST00000337526.6	-	3	2062_2064	c.1819_1821delCCT	c.(1819-1821)cctdel	p.P607del	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_In_Frame_Del_p.P401del|RTN4_ENST00000404909.1_In_Frame_Del_p.P401del|RTN4_ENST00000354474.6_In_Frame_Del_p.P375del|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_In_Frame_Del_p.P401del|RTN4_ENST00000405240.1_In_Frame_Del_p.P401del	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	607					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAACTGGTGAAGGAGTAGCTTCT	0.443																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1819-1821)del		reticulon 4																																				SO:0001651	inframe_deletion	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253414_55253416delAGG	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1819_1821delCCT	2.37:g.55253414_55253416delAGG	ENSP00000337838:p.Pro607del					RTN4_ENST00000404909.1_In_Frame_Del_p.P401del|RTN4_ENST00000394611.2_In_Frame_Del_p.P401del|RTN4_ENST00000357376.3_In_Frame_Del_p.P401del|RTN4_ENST00000354474.6_In_Frame_Del_p.P375del|RTN4_ENST00000405240.1_In_Frame_Del_p.P401del|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron	p.P607del	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2062_2064	-			607					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	In_Frame_Del	DEL	ENST00000337526.6	37	c.1819_1821delCCT	CCDS42684.1																																																																																				0.443	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			33	45						33	45	---	---	---	---
ZNRF2P2	100271874	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366				MIR550A3_ENST00000390735.2_RNA	NR_024278.1				zinc and ring finger 2 pseudogene 2																		CTCTCAGATCAGTGATGCCCTG	0.485													GG|G|GG|deletion	1162	0.232029	0.3238	0.3055	5008	,	,		15903	0.0486		0.3012	False		,,,				2504	0.1738					ENST00000426767.1																			0																																																			0							g.chr7:29720482_29720483insG			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29720483_29720483dupG								NR_024278.1						0	366	-									RNA	INS	ENST00000426767.1	37																																																																																						0.485	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		5	10						5	10	---	---	---	---
NUDT18	79873	broad.mit.edu	37	8	21965771	21965771	+	Frame_Shift_Del	DEL	G	G	-	rs533078716		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr8:21965771delG	ENST00000309188.6	-	4	367	c.249delC	c.(247-249)accfs	p.T83fs	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Frame_Shift_Del_p.T6fs	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	83	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CCTCCACGATGGTCTCCCCTG	0.677																																						ENST00000309188.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(247-249)acfs		nudix (nucleoside diphosphate linked moiety X)-type motif 18							30.0	38.0	35.0					8																	21965771		2137	4220	6357	SO:0001589	frameshift_variant	79873						hydrolase activity|metal ion binding|protein binding	g.chr8:21965771delG		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.249delC	8.37:g.21965771delG	ENSP00000307852:p.Thr83fs					NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Frame_Shift_Del_p.T6fs	p.T83fs	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN		Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)	4	367	-			83			Nudix hydrolase.		Q8IZ75|Q9H687	Frame_Shift_Del	DEL	ENST00000309188.6	37	c.249delC																																																																																					0.677	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		2	4						2	4	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8518239	8518242	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr9:8518239_8518242delACTT	ENST00000381196.4	-	18	1692_1695	c.1149_1152delAAGT	c.(1147-1152)ctaagtfs	p.LS383fs	PTPRD_ENST00000397617.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.LS383fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	383	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCGAGTAGGGACTTAGTCCAGCGA	0.461										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1147-1152)ctfs		protein tyrosine phosphatase, receptor type, D																																				SO:0001589	frameshift_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518239_8518242delACTT	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1149_1152delAAGT	9.37:g.8518239_8518242delACTT	ENSP00000370593:p.Leu383fs	TSP Lung(15;0.13)				PTPRD_ENST00000486161.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.LS370fs	p.LS383fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	18	1692_1695	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	383			Fibronectin type-III 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Frame_Shift_Del	DEL	ENST00000381196.4	37	c.1149_1152delAAGT	CCDS43786.1																																																																																				0.461	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			68	95						68	95	---	---	---	---
ENTPD1	953	broad.mit.edu	37	10	97605324	97605325	+	Frame_Shift_Del	DEL	CT	CT	-	rs140773352		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr10:97605324_97605325delCT	ENST00000371205.4	+	6	1067_1068	c.784_785delCT	c.(784-786)ctcfs	p.L262fs	ENTPD1_ENST00000543964.1_Frame_Shift_Del_p.L154fs|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Frame_Shift_Del_p.L124fs|ENTPD1_ENST00000539125.1_Frame_Shift_Del_p.L124fs|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Frame_Shift_Del_p.L274fs|ENTPD1_ENST00000453258.2_Frame_Shift_Del_p.L269fs			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	262					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGATCAGGCACTCTGGCAGAAA	0.5																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(370-372)cfs		ectonucleoside triphosphate diphosphohydrolase 1																																				SO:0001589	frameshift_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97605324_97605325delCT	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.784_785delCT	10.37:g.97605326_97605327delCT	ENSP00000360248:p.Leu262fs					ENTPD1_ENST00000453258.2_Frame_Shift_Del_p.L269fs|ENTPD1_ENST00000543964.1_Frame_Shift_Del_p.L154fs|ENTPD1_ENST00000539125.1_Frame_Shift_Del_p.L124fs|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371205.4_Frame_Shift_Del_p.L262fs|ENTPD1_ENST00000371207.3_Frame_Shift_Del_p.L274fs	p.L124fs	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	5	957_958	+		Colorectal(252;0.0821)	262					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Frame_Shift_Del	DEL	ENST00000371205.4	37	c.370_371delCT	CCDS7444.1																																																																																				0.500	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		18	58						18	58	---	---	---	---
PACS2	23241	broad.mit.edu	37	14	105818792	105818794	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:105818792_105818794delCTT	ENST00000325438.8	+	3	789_791	c.285_287delCTT	c.(283-288)accttc>acc	p.F96del	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000447393.1_In_Frame_Del_p.F96del|PACS2_ENST00000458164.2_In_Frame_Del_p.F96del|PACS2_ENST00000430725.2_In_Frame_Del_p.F29del			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGGCCCTGACCTTCTCCTTGCAG	0.606											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(283-288)acc>ac		phosphofurin acidic cluster sorting protein 2																																				SO:0001651	inframe_deletion	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105818792_105818794delCTT	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.285_287delCTT	14.37:g.105818792_105818794delCTT	ENSP00000321834:p.Phe96del		OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1392	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.TF28del|PACS2_ENST00000458164.2_In_Frame_Del_p.TF95del|PACS2_ENST00000325438.8_In_Frame_Del_p.TF95del	p.TF95del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	3	460_462	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	95					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	In_Frame_Del	DEL	ENST00000325438.8	37	c.285_287delCTT	CCDS32168.1																																																																																				0.606	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		53	70						53	70	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					ENST00000392519.2																			0				endometrium(2)|lung(1)	3						c.(877-882)gtg>gt		transmembrane protein 121				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1043_1045	+		Melanoma(154;0.226)	293			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																				0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		3	4						3	4	---	---	---	---
