#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
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2044-2046)cGc>cAc		matrix-remodelling associated 5							78.0	73.0	74.0					X																	3241681		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241681C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2045G>A	X.37:g.3241681C>T	ENSP00000217939:p.Arg682His						p.R682H	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2199	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	682					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2045G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	4.025	0.002194	0.07819	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65549	-0.16	3.48	0.632	0.17705	.	0.561089	0.14863	N	0.293997	T	0.34919	0.0914	N	0.08118	0	0.20975	N	0.999819	B	0.19331	0.035	B	0.10450	0.005	T	0.16188	-1.0411	10	0.24483	T	0.36	.	6.6189	0.22792	0.0:0.5558:0.0:0.4442	.	682	Q9NR99	MXRA5_HUMAN	H	682	ENSP00000217939:R682H	ENSP00000217939:R682H	R	-	2	0	MXRA5	3251681	0.875000	0.30112	0.004000	0.12327	0.007000	0.05969	-0.070000	0.11523	-0.013000	0.14199	0.529000	0.55759	CGC		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		24	18	0	0	0	1	0	24	18				
TTN	7273	broad.mit.edu	37	2	179591914	179591914	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179591914C>G	ENST00000591111.1	-	67	19451	c.19227G>C	c.(19225-19227)caG>caC	p.Q6409H	TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5482H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q6726H			Q8WZ42	TITIN_HUMAN	titin	13180	Ig-like 45.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGTTCATCTGTATGACGG	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20176-20178)caG>caC		titin							113.0	106.0	108.0					2																	179591914		1913	4145	6058	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591914C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19227G>C	2.37:g.179591914C>G	ENSP00000465570:p.Gln6409His					TTN_ENST00000342992.6_Missense_Mutation_p.Q5482H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6409H|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.Q6726H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		69	20402	-			6409					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.20178G>C		.	.	.	.	.	.	.	.	.	.	C	8.167	0.790863	0.16258	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	6.03	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65729	0.2719	L	0.35644	1.08	0.80722	D	1	D	0.54397	0.966	P	0.55161	0.77	T	0.68580	-0.5371	9	0.87932	D	0	.	7.1437	0.25570	0.0:0.7221:0.0:0.2779	.	6409	Q8WZ42	TITIN_HUMAN	H	5482	ENSP00000343764:Q5482H	ENSP00000343764:Q5482H	Q	-	3	2	TTN	179300159	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.394000	0.34509	1.558000	0.49541	0.655000	0.94253	CAG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	60	0	0	0	1	0	21	60				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	39	0	0	0	1	0	5	39				
MX2	4600	broad.mit.edu	37	21	42749752	42749752	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:42749752A>T	ENST00000330714.3	+	3	470	c.286A>T	c.(286-288)Aag>Tag	p.K96*	MX2_ENST00000543692.1_Nonsense_Mutation_p.K96*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	96					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTACGAGCAGAAGGTGCGCCC	0.627																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(286-288)Aag>Tag		myxovirus (influenza virus) resistance 2 (mouse)							85.0	78.0	81.0					21																	42749752		2203	4300	6503	SO:0001587	stop_gained	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42749752A>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.286A>T	21.37:g.42749752A>T	ENSP00000333657:p.Lys96*					MX2_ENST00000543692.1_Nonsense_Mutation_p.K96*	p.K96*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			3	470	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	96					B7Z5D3|D3DSI7	Nonsense_Mutation	SNP	ENST00000330714.3	37	c.286A>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.213820	0.58452	.	.	ENSG00000183486	ENST00000330714;ENST00000436410;ENST00000435611;ENST00000543692;ENST00000418103	.	.	.	3.92	2.74	0.32292	.	0.166802	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1692	8.7453	0.34583	0.9037:0.0:0.0963:0.0	.	.	.	.	X	96	.	ENSP00000333657:K96X	K	+	1	0	MX2	41671622	1.000000	0.71417	0.988000	0.46212	0.042000	0.13812	8.073000	0.89498	0.622000	0.30249	-0.290000	0.09829	AAG		0.627	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		27	76	0	0	0	1	0	27	76				
RSPO4	343637	broad.mit.edu	37	20	944643	944643	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:944643T>C	ENST00000217260.4	-	4	626	c.530A>G	c.(529-531)gAg>gGg	p.E177G	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	177	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGGCTGCCTCCTCATGCCC	0.672																																						ENST00000217260.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(529-531)gAg>gGg		R-spondin 4							34.0	40.0	38.0					20																	944643		1999	4167	6166	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:944643T>C	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.530A>G	20.37:g.944643T>C	ENSP00000217260:p.Glu177Gly					RSPO4_ENST00000400634.2_Intron	p.E177G	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN			4	626	-			177			TSP type-1.		A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.530A>G	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034573	0.54896	.	.	ENSG00000101282	ENST00000217260	T	0.13538	2.58	4.62	4.62	0.57501	.	0.264927	0.30085	N	0.010446	T	0.14614	0.0353	N	0.11651	0.15	0.80722	D	1	D	0.58620	0.983	P	0.55303	0.773	T	0.11348	-1.0591	10	0.62326	D	0.03	-18.4711	13.1751	0.59621	0.0:0.0:0.0:1.0	.	177	Q2I0M5	RSPO4_HUMAN	G	177	ENSP00000217260:E177G	ENSP00000217260:E177G	E	-	2	0	RSPO4	892643	1.000000	0.71417	0.144000	0.22314	0.171000	0.22731	4.439000	0.59968	1.870000	0.54199	0.248000	0.18094	GAG		0.672	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		8	79	0	0	0	1	0	8	79				
PPFIA3	8541	broad.mit.edu	37	19	49651494	49651494	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:49651494A>G	ENST00000334186.4	+	24	3339	c.2990A>G	c.(2989-2991)aAg>aGg	p.K997R	PPFIA3_ENST00000602351.1_Missense_Mutation_p.K988R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	997	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCAACTCAAGATGGTGGAC	0.582																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(2989-2991)aAg>aGg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							34.0	35.0	34.0					19																	49651494		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49651494A>G	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2990A>G	19.37:g.49651494A>G	ENSP00000335614:p.Lys997Arg					PPFIA3_ENST00000602351.1_Missense_Mutation_p.K988R	p.K997R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	24	3339	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	997			SAM 2.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.2990A>G	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444105	0.83993	.	.	ENSG00000177380	ENST00000334186	T	0.50813	0.73	4.35	4.35	0.52113	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.44688	D	0.000424	T	0.60248	0.2254	L	0.48642	1.525	0.80722	D	1	B;D	0.76494	0.108;0.999	B;D	0.91635	0.081;0.999	T	0.61118	-0.7127	10	0.49607	T	0.09	-30.1614	12.8391	0.57790	1.0:0.0:0.0:0.0	.	988;997	O75145-2;O75145	.;LIPA3_HUMAN	R	997	ENSP00000335614:K997R	ENSP00000335614:K997R	K	+	2	0	PPFIA3	54343306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.275000	0.95738	1.750000	0.51863	0.460000	0.39030	AAG		0.582	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		19	15	0	0	0	1	0	19	15				
RB1CC1	9821	broad.mit.edu	37	8	53569559	53569559	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:53569559G>C	ENST00000025008.5	-	15	3353	c.2830C>G	c.(2830-2832)Caa>Gaa	p.Q944E	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q944E|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q944E	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	944					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCACAATTTTGAGAGTGCATT	0.323																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2830-2832)Caa>Gaa		RB1-inducible coiled-coil 1							77.0	78.0	78.0					8																	53569559		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569559G>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2830C>G	8.37:g.53569559G>C	ENSP00000025008:p.Gln944Glu					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q944E|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q944E	p.Q944E	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			15	3353	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	944					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.2830C>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155302	0.38021	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04015	3.73;3.73;3.73	5.26	3.4	0.38934	.	0.055990	0.64402	D	0.000001	T	0.12008	0.0292	L	0.36672	1.1	0.54753	D	0.999985	D;D	0.61697	0.99;0.982	D;D	0.72982	0.979;0.952	T	0.02966	-1.1088	10	0.37606	T	0.19	-11.18	12.3309	0.55039	0.0:0.1291:0.7366:0.1343	.	944;944	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	E	944	ENSP00000025008:Q944E;ENSP00000396067:Q944E;ENSP00000445960:Q944E	ENSP00000025008:Q944E	Q	-	1	0	RB1CC1	53732112	1.000000	0.71417	0.007000	0.13788	0.673000	0.39480	7.155000	0.77445	0.657000	0.30906	0.557000	0.71058	CAA		0.323	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		19	39	0	0	0	1	0	19	39				
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184.0	181.0	182.0					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		4	370	0	0	0	1	0	4	370				
CIC	23152	broad.mit.edu	37	19	42795390	42795390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:42795390C>T	ENST00000575354.2	+	10	2510	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	CIC_ENST00000160740.3_Nonsense_Mutation_p.Q824*|CIC_ENST00000572681.2_Nonsense_Mutation_p.Q1733*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	824	Pro-rich.				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)				GGGAATCACCCAGGTACAGTA	0.692			"""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.(5197-5199)Cag>Tag		capicua transcriptional repressor							15.0	17.0	16.0					19																	42795390		2202	4294	6496	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795390C>T	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.2470C>T	19.37:g.42795390C>T	ENSP00000458663:p.Gln824*					CIC_ENST00000160740.3_Nonsense_Mutation_p.Q824*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q824*	p.Q1733*			Q96RK0	CIC_HUMAN			11	5265	+		Prostate(69;0.00682)	824					Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.5197C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863783	0.91511	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.8504	16.1479	0.81583	0.0:1.0:0.0:0.0	.	.	.	.	X	824	.	ENSP00000160740:Q824X	Q	+	1	0	CIC	47487230	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.035000	0.64158	2.420000	0.82092	0.561000	0.74099	CAG		0.692	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			4	16	0	0	0	1	0	4	16				
RYR2	6262	broad.mit.edu	37	1	237666709	237666709	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:237666709G>T	ENST00000366574.2	+	22	2834	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	RYR2_ENST00000542537.1_Missense_Mutation_p.E823D|RYR2_ENST00000360064.6_Missense_Mutation_p.E837D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	839					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCCGAGAGTACAAGCAAG	0.507																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2515-2517)gaG>gaT		ryanodine receptor 2 (cardiac)							120.0	123.0	122.0					1																	237666709		2007	4165	6172	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237666709G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2517G>T	1.37:g.237666709G>T	ENSP00000355533:p.Glu839Asp					RYR2_ENST00000542537.1_Missense_Mutation_p.E823D|RYR2_ENST00000360064.6_Missense_Mutation_p.E837D	p.E839D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2834	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	839					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2517G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489059	0.44249	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96802	-4.13;-4.1;-4.12	5.62	2.33	0.28932	.	0.000000	0.51477	D	0.000088	D	0.92482	0.7613	L	0.46157	1.445	0.80722	D	1	B	0.22276	0.067	B	0.17433	0.018	D	0.87427	0.2386	10	0.42905	T	0.14	.	7.8072	0.29209	0.5703:0.0:0.4297:0.0	.	839	Q92736	RYR2_HUMAN	D	839;837;823	ENSP00000355533:E839D;ENSP00000353174:E837D;ENSP00000443798:E823D	ENSP00000353174:E837D	E	+	3	2	RYR2	235733332	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.639000	0.24690	0.601000	0.29879	0.650000	0.86243	GAG		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	69	1	0	2.35188e-11	1	2.66781e-11	16	69				
TTN	7273	broad.mit.edu	37	2	179455636	179455636	+	Silent	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179455636C>T	ENST00000591111.1	-	254	56117	c.55893G>A	c.(55891-55893)ccG>ccA	p.P18631P	TTN_ENST00000359218.5_Silent_p.P11332P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P11399P|TTN_ENST00000342992.6_Silent_p.P17704P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P11207P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.P20272P			Q8WZ42	TITIN_HUMAN	titin	18631	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGGAGACGGAGGACTAA	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60814-60816)ccG>ccA		titin							128.0	127.0	127.0					2																	179455636		1904	4113	6017	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455636C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55893G>A	2.37:g.179455636C>T						TTN_ENST00000342992.6_Silent_p.P17704P|TTN_ENST00000359218.5_Silent_p.P11332P|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P11399P|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.P18631P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.P11207P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA	p.P20272P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61040	-			18631			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.60816G>A																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	103	0	0	0	1	0	46	103				
PAFAH2	5051	broad.mit.edu	37	1	26311003	26311003	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:26311003A>G	ENST00000374282.3	-	5	537	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	PAFAH2_ENST00000493892.1_5'UTR|PAFAH2_ENST00000374284.1_Missense_Mutation_p.F120L	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	120					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGCAGAAGGCTGAATAC	0.522																																						ENST00000374282.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(358-360)Ttc>Ctc		platelet-activating factor acetylhydrolase 2, 40kDa							58.0	57.0	57.0					1																	26311003		2203	4300	6503	SO:0001583	missense	5051				lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr1:26311003A>G	D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.358T>C	1.37:g.26311003A>G	ENSP00000363400:p.Phe120Leu					PAFAH2_ENST00000374284.1_Missense_Mutation_p.F120L|PAFAH2_ENST00000493892.1_5'UTR	p.F120L	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)	5	537	-		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	120					D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	c.358T>C	CCDS270.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516655	0.44763	.	.	ENSG00000158006	ENST00000374282;ENST00000374284;ENST00000439092;ENST00000441420	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000010	T	0.17534	0.0421	N	0.05078	-0.115	0.37760	D	0.926286	B	0.18013	0.025	B	0.18561	0.022	T	0.16660	-1.0395	10	0.02654	T	1	-13.7513	8.2511	0.31717	0.7138:0.0:0.0:0.2862	.	120	Q99487	PAFA2_HUMAN	L	120	ENSP00000363400:F120L;ENSP00000363402:F120L;ENSP00000408313:F120L;ENSP00000411011:F120L	ENSP00000363400:F120L	F	-	1	0	PAFAH2	26183590	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.600000	0.36762	1.937000	0.56155	0.455000	0.32223	TTC		0.522	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437		17	5	0	0	0	1	0	17	5				
CMYA5	202333	broad.mit.edu	37	5	79026993	79026993	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:79026993C>T	ENST00000446378.2	+	2	2436	c.2405C>T	c.(2404-2406)gCa>gTa	p.A802V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	802					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCAAATATGCAGCCCCACTC	0.443																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2404-2406)gCa>gTa		cardiomyopathy associated 5							81.0	78.0	79.0					5																	79026993		1961	4168	6129	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026993C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2405C>T	5.37:g.79026993C>T	ENSP00000394770:p.Ala802Val						p.A802V	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2436	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	802					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2405C>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202390	0.38905	.	.	ENSG00000164309	ENST00000446378	T	0.43294	0.95	5.41	2.58	0.30949	.	0.929586	0.08998	N	0.863482	T	0.38134	0.1029	M	0.65975	2.015	0.09310	N	0.999999	P	0.39831	0.69	B	0.32677	0.15	T	0.27872	-1.0061	10	0.87932	D	0	.	7.4209	0.27071	0.0:0.7129:0.0:0.2871	.	802	Q8N3K9	CMYA5_HUMAN	V	802	ENSP00000394770:A802V	ENSP00000394770:A802V	A	+	2	0	CMYA5	79062749	0.001000	0.12720	0.113000	0.21522	0.006000	0.05464	0.260000	0.18424	0.315000	0.23110	0.650000	0.86243	GCA		0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		32	71	0	0	0	1	0	32	71				
ABCA13	154664	broad.mit.edu	37	7	48556330	48556330	+	Silent	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:48556330T>C	ENST00000435803.1	+	52	13674	c.13650T>C	c.(13648-13650)acT>acC	p.T4550T	ABCA13_ENST00000544596.1_Silent_p.T280T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4550					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.T4495T(1)|p.T4550T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATATGCAACTCTTCCATGGA	0.378																																						ENST00000435803.1																			2	Substitution - coding silent(2)	p.T4495T(1)|p.T4550T(1)	kidney(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(13648-13650)acT>acC		ATP-binding cassette, sub-family A (ABC1), member 13							259.0	253.0	255.0					7																	48556330		1883	4105	5988	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48556330T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13650T>C	7.37:g.48556330T>C						ABCA13_ENST00000544596.1_Silent_p.T280T	p.T4550T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			52	13674	+			4550					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.13650T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	8.385	0.838327	0.16891	.	.	ENSG00000179869	ENST00000435451	.	.	.	5.35	-3.32	0.04973	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.42316	D	0.992231	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	.	0.6793	0.00872	0.2164:0.1906:0.3374:0.2555	.	.	.	.	P	71	.	.	S	+	1	0	ABCA13	48526876	0.023000	0.18921	0.032000	0.17829	0.940000	0.58332	-1.017000	0.03630	-0.506000	0.06558	0.533000	0.62120	TCT		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	228	0	0	0	1	0	5	228				
NAB2	4665	broad.mit.edu	37	12	57487218	57487218	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:57487218G>A	ENST00000300131.3	+	6	1683	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	435					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGACGCCGCCCCCTGCTG	0.657																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1303-1305)ccG>ccA		NGFI-A binding protein 2 (EGR1 binding protein 2)							14.0	15.0	14.0					12																	57487218		2187	4280	6467	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57487218G>A	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1305G>A	12.37:g.57487218G>A						NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	p.P435P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			6	1683	+			435					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.1305G>A	CCDS8930.1																																																																																				0.657	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		3	14	0	0	0	1	0	3	14				
CCDC15	80071	broad.mit.edu	37	11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	rs112861775	byFrequency	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:124857585C>A	ENST00000344762.5	+	8	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H	CCDC15_ENST00000529051.1_Missense_Mutation_p.P488H	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	488						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1462-1464)cCc>cAc		coiled-coil domain containing 15							139.0	131.0	133.0					11																	124857585		1815	4070	5885	SO:0001583	missense	80071					centrosome		g.chr11:124857585C>A	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1463C>A	11.37:g.124857585C>A	ENSP00000341684:p.Pro488His					CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H	p.P488H			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1722	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	488					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1463C>A	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.620062	0.28801	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.32515	1.45;1.46	2.6	-0.521	0.11931	.	0.245643	0.21458	N	0.074211	T	0.30759	0.0775	L	0.37850	1.14	0.09310	N	1	D	0.61697	0.99	P	0.55824	0.785	T	0.12451	-1.0547	10	0.54805	T	0.06	6.3288	6.1694	0.20408	0.0:0.4625:0.0:0.5375	.	488	Q0P6D6	CCD15_HUMAN	H	488	ENSP00000435403:P488H;ENSP00000341684:P488H	ENSP00000341684:P488H	P	+	2	0	CCDC15	124362795	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	0.006000	0.13152	-0.080000	0.12685	-0.640000	0.03970	CCC		0.403	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		4	189	1	0	0.150653	1	0.150653	4	189				
SRRM4	84530	broad.mit.edu	37	12	119583235	119583235	+	Missense_Mutation	SNP	C	C	T	rs377333031		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:119583235C>T	ENST00000267260.4	+	9	1209	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	274	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAGCCAGCCCGCTCACCACC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15669	0.0		0.0	False		,,,				2504	0.0					ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(820-822)cCg>cTg		serine/arginine repetitive matrix 4		C	LEU/PRO	1,3961		0,1,1980	26.0	29.0	28.0		821	1.2	1.0	12		28	0,8306		0,0,4153	no	missense	SRRM4	NM_194286.3	98	0,1,6133	TT,TC,CC		0.0,0.0252,0.0082	probably-damaging	274/612	119583235	1,12267	1981	4153	6134	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583235C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.821C>T	12.37:g.119583235C>T	ENSP00000267260:p.Pro274Leu						p.P274L	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			9	1209	+			274			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.821C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973226	0.53614	2.52E-4	0.0	ENSG00000139767	ENST00000267260	T	0.23950	1.88	5.48	1.24	0.21308	.	0.460360	0.25490	N	0.030304	T	0.18841	0.0452	L	0.53249	1.67	0.35329	D	0.785432	B	0.18741	0.03	B	0.12156	0.007	T	0.10613	-1.0622	9	.	.	.	-6.6734	4.4076	0.11416	0.3347:0.3747:0.2229:0.0677	.	274	A7MD48	SRRM4_HUMAN	L	274	ENSP00000267260:P274L	.	P	+	2	0	SRRM4	118067618	0.581000	0.26741	0.990000	0.47175	0.952000	0.60782	0.360000	0.20250	0.248000	0.21435	0.655000	0.94253	CCG		0.612	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		4	8	0	0	0	1	0	4	8				
GPR85	54329	broad.mit.edu	37	7	112723879	112723879	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:112723879G>C	ENST00000297146.3	-	3	1501	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.P300A|GPR85_ENST00000424100.1_Missense_Mutation_p.P300A|GPR85_ENST00000449591.1_Missense_Mutation_p.P300A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	300					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P300T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458																																						ENST00000501255.2																			1	Substitution - Missense(1)	p.P300T(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(898-900)Ccc>Gcc		G protein-coupled receptor 85							67.0	73.0	71.0					7																	112723879		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112723879G>C	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.898C>G	7.37:g.112723879G>C	ENSP00000297146:p.Pro300Ala					GPR85_ENST00000297146.2_Missense_Mutation_p.P300A|GPR85_ENST00000449591.1_Missense_Mutation_p.P300A|GPR85_ENST00000424100.1_Missense_Mutation_p.P300A	p.P300A	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN			3	1521	-			300					Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.898C>G	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058736	0.55325	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90330	0.4351	10	0.87932	D	0	.	18.1843	0.89788	0.0:0.0:1.0:0.0	.	300	P60893	GPR85_HUMAN	A	300	ENSP00000445808:P300A;ENSP00000297146:P300A;ENSP00000396763:P300A;ENSP00000401178:P300A	ENSP00000297146:P300A	P	-	1	0	GPR85	112511115	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.608000	0.88229	0.585000	0.79938	CCC		0.458	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			3	88	0	0	0	1	0	3	88				
DCAF17	80067	broad.mit.edu	37	2	172337525	172337525	+	Silent	SNP	A	A	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:172337525A>C	ENST00000375255.3	+	14	1791	c.1464A>C	c.(1462-1464)ctA>ctC	p.L488L	DCAF17_ENST00000539783.1_Silent_p.L421L|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	488					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACTTGGTGCTACACATAGAGC	0.398																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(1462-1464)ctA>ctC		DDB1 and CUL4 associated factor 17							127.0	123.0	125.0					2																	172337525		2203	4300	6503	SO:0001819	synonymous_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172337525A>C	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.1464A>C	2.37:g.172337525A>C						DCAF17_ENST00000539783.1_Silent_p.L421L|DCAF17_ENST00000468592.1_3'UTR	p.L488L	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			14	1791	+			488					B2RTW5|Q53TN3|Q9H908	Silent	SNP	ENST00000375255.3	37	c.1464A>C	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	7.332	0.619088	0.14129	.	.	ENSG00000115827	ENST00000339506;ENST00000431110	.	.	.	5.74	-6.99	0.01605	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42632	-0.9440	4	.	.	.	-7.4801	4.2874	0.10862	0.2381:0.2794:0.3906:0.0919	.	.	.	.	S	239;190	.	.	Y	+	2	0	DCAF17	172045771	0.000000	0.05858	0.829000	0.32907	0.674000	0.39518	-1.894000	0.01607	-1.217000	0.02604	-1.091000	0.02175	TAC		0.398	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		6	142	0	0	0	1	0	6	142				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	78	0	0	0	1	0	4	78				
SHPRH	257218	broad.mit.edu	37	6	146271526	146271526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:146271526G>A	ENST00000367505.2	-	4	1120	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.Q286*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	286					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCGTTTCTTGCTGATGTGTT	0.468																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(856-858)Caa>Taa		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							249.0	252.0	251.0					6																	146271526		2038	4183	6221	SO:0001587	stop_gained	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146271526G>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.856C>T	6.37:g.146271526G>A	ENSP00000356475:p.Gln286*					SHPRH_ENST00000275233.7_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000367505.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.Q286*	p.Q286*	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	4	1254	-		Ovarian(120;0.0365)	286					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	ENST00000367505.2	37	c.856C>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	40	8.316436	0.98757	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	.	.	.	5.95	5.08	0.68730	.	0.172268	0.40144	N	0.001178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-8.5939	12.8008	0.57584	0.0:0.1255:0.744:0.1305	.	.	.	.	X	286;286;286;286;175	.	ENSP00000275233:Q286X	Q	-	1	0	SHPRH	146313219	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.302000	0.51849	1.511000	0.48818	0.650000	0.86243	CAA		0.468	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		62	147	0	0	0	1	0	62	147				
SLC26A5	375611	broad.mit.edu	37	7	103018895	103018895	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018895C>G	ENST00000306312.3	-	17	2044	c.1783G>C	c.(1783-1785)Gca>Cca	p.A595P	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.A28P|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A595P|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A563P|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A595P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A558P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	595	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCACTCACTGCTTTGACAACA	0.448																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(1783-1785)Gca>Cca		solute carrier family 26 (anion exchanger), member 5							222.0	179.0	194.0					7																	103018895		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103018895C>G	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1783G>C	7.37:g.103018895C>G	ENSP00000304783:p.Ala595Pro					SLC26A5_ENST00000339444.6_Missense_Mutation_p.A595P|SLC26A5_ENST00000354356.4_Missense_Mutation_p.A28P|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A563P|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A595P|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A558P	p.A595P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			17	2044	-			595			STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1783G>C	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748528	0.15710	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.95756	-3.2;-3.23;-3.21;-3.21;-3.8;-3.16;-3.22;-3.22	5.53	4.63	0.57726	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.708276	0.11950	U	0.513820	D	0.92061	0.7484	L	0.39898	1.24	0.09310	N	1	B;P;B	0.35456	0.0;0.502;0.108	B;B;B	0.37550	0.009;0.253;0.122	D	0.84366	0.0541	10	0.28530	T	0.3	.	8.3977	0.32568	0.0:0.6227:0.298:0.0793	.	595;563;595	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	P	595;595;563;563;28;558;595;563	ENSP00000342396:A595P;ENSP00000304783:A595P;ENSP00000377331:A563P;ENSP00000389733:A563P;ENSP00000346325:A28P;ENSP00000377330:A558P;ENSP00000377328:A595P;ENSP00000377324:A563P	ENSP00000304783:A595P	A	-	1	0	SLC26A5	102806131	0.272000	0.24172	0.338000	0.25549	0.278000	0.26855	1.274000	0.33132	1.441000	0.47550	0.644000	0.83932	GCA		0.448	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		13	115	0	0	0	1	0	13	115				
TMEM19	55266	broad.mit.edu	37	12	72094645	72094645	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:72094645G>A	ENST00000266673.5	+	6	1475	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	294						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTCAACAGCCCAACAAAT	0.413																																						ENST00000266673.5																			0				large_intestine(1)|lung(8)	9						c.(880-882)aGc>aAc		transmembrane protein 19							229.0	199.0	209.0					12																	72094645		2203	4300	6503	SO:0001583	missense	55266					integral to membrane		g.chr12:72094645G>A	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.881G>A	12.37:g.72094645G>A	ENSP00000266673:p.Ser294Asn						p.S294N	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN		GBM - Glioblastoma multiforme(134;0.044)	6	1475	+		Breast(359;0.0889)	294					B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	c.881G>A	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.371957	0.24857	.	.	ENSG00000139291	ENST00000266673;ENST00000546795	.	.	.	5.93	1.47	0.22746	.	0.439021	0.29028	N	0.013370	T	0.32466	0.0830	L	0.38838	1.175	0.80722	D	1	B	0.27791	0.189	B	0.25614	0.062	T	0.04551	-1.0943	9	0.20046	T	0.44	-2.3182	2.765	0.05317	0.4766:0.0:0.3134:0.21	.	294	Q96HH6	TMM19_HUMAN	N	294;138	.	ENSP00000266673:S294N	S	+	2	0	TMEM19	70380912	0.997000	0.39634	0.997000	0.53966	0.990000	0.78478	2.536000	0.45693	0.371000	0.24564	0.655000	0.94253	AGC		0.413	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279		8	196	0	0	0	1	0	8	196				
STMN3	50861	broad.mit.edu	37	20	62273610	62273610	+	Missense_Mutation	SNP	C	C	T	rs370557606		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:62273610C>T	ENST00000370053.1	-	4	415	c.334G>A	c.(334-336)Gag>Aag	p.E112K	STMN3_ENST00000540534.1_Missense_Mutation_p.E101K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	112	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCTCGTGCTCGCGCCGCTCC	0.692																																						ENST00000370053.1																			0				kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8						c.(334-336)Gag>Aag		stathmin-like 3		C	LYS/GLU	0,4394		0,0,2197	23.0	21.0	22.0		334	5.1	1.0	20		22	1,8597		0,1,4298	no	missense	STMN3	NM_015894.2	56	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	112/181	62273610	1,12991	2197	4299	6496	SO:0001583	missense	50861				cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding	g.chr20:62273610C>T	AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.334G>A	20.37:g.62273610C>T	ENSP00000359070:p.Glu112Lys					STMN3_ENST00000540534.1_Missense_Mutation_p.E101K	p.E112K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)		4	415	-	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		112					B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	ENST00000370053.1	37	c.334G>A	CCDS13529.1	.	.	.	.	.	.	.	.	.	.	c	32	5.129302	0.94473	0.0	1.16E-4	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000009	T	0.77445	0.4131	M	0.84511	2.7	0.58432	D	0.999998	D	0.69078	0.997	P	0.54431	0.752	T	0.81439	-0.0932	9	0.54805	T	0.06	-21.4045	18.6308	0.91359	0.0:1.0:0.0:0.0	.	112	Q9NZ72	STMN3_HUMAN	K	112;101	.	ENSP00000359070:E112K	E	-	1	0	STMN3	61744054	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	7.558000	0.82253	2.404000	0.81709	0.479000	0.44913	GAG		0.692	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080163.1	NM_015894		6	25	0	0	0	1	0	6	25				
DMRT3	58524	broad.mit.edu	37	9	977181	977181	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:977181C>G	ENST00000190165.2	+	1	218	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	60					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGCATCCTCATCATCGAGC	0.667																																						ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(178-180)ctC>ctG		doublesex and mab-3 related transcription factor 3							33.0	28.0	30.0					9																	977181		2200	4300	6500	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:977181C>G	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.180C>G	9.37:g.977181C>G							p.L60L	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	218	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	60					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.180C>G	CCDS6443.1																																																																																				0.667	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		4	41	0	0	0	1	0	4	41				
HERC2P3	283755	broad.mit.edu	37	15	20643888	20643888	+	RNA	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:20643888T>C	ENST00000428453.1	-	0	3571							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGTCCGCATGTCAGAGAACTG	0.498																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															86.0	73.0	78.0					15																	20643888		2189	4266	6455			0							g.chr15:20643888T>C	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643888T>C														0	3571	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.498	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		48	161	0	0	0	1	0	48	161				
STX11	8676	broad.mit.edu	37	6	144507945	144507945	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:144507945G>A	ENST00000367568.4	+	2	364	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	61				D -> N (in Ref. 1; AAD02107). {ECO:0000305}.	cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGTGGCCGACGTGAAGCG	0.612									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(181-183)Gac>Aac		syntaxin 11							37.0	34.0	35.0					6																	144507945		2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144507945G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.181G>A	6.37:g.144507945G>A	ENSP00000356540:p.Asp61Asn						p.D61N	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	364	+			61	D -> N (in Ref. 1; AAD02107).				E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.181G>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324072	0.60634	.	.	ENSG00000135604	ENST00000367568	T	0.15017	2.46	5.99	5.11	0.69529	t-SNARE (1);Syntaxin, N-terminal (2);	0.046366	0.85682	D	0.000000	T	0.09949	0.0244	M	0.73217	2.22	0.52099	D	0.999948	P	0.47191	0.891	B	0.37508	0.252	T	0.11348	-1.0591	10	0.17832	T	0.49	-39.0566	16.257	0.82522	0.0:0.0:0.866:0.134	.	61	O75558	STX11_HUMAN	N	61	ENSP00000356540:D61N	ENSP00000356540:D61N	D	+	1	0	STX11	144549638	1.000000	0.71417	0.964000	0.40570	0.004000	0.04260	7.464000	0.80887	1.520000	0.48965	-0.181000	0.13052	GAC		0.612	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			9	21	0	0	0	1	0	9	21				
CAPNS1	826	broad.mit.edu	37	19	36631958	36631958	+	Silent	SNP	C	C	G	rs567500165		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736													C|||	1	0.000199681	0.0	0.0	5008	,	,		3971	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(43-45)ggC>ggG		calpain, small subunit 1							6.0	7.0	7.0					19																	36631958		1958	3947	5905	SO:0001819	synonymous_variant	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36631958C>G	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.45C>G	19.37:g.36631958C>G						CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G	p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	643	+	Esophageal squamous(110;0.162)		15			Gly-rich (hydrophobic).|Poly-Gly.		A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	c.45C>G	CCDS12489.1																																																																																				0.736	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			3	17	0	0	0	1	0	3	17				
SLC44A3	126969	broad.mit.edu	37	1	95307657	95307657	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:95307657G>A	ENST00000271227.6	+	8	964	c.862G>A	c.(862-864)Gct>Act	p.A288T	SLC44A3_ENST00000467909.1_Missense_Mutation_p.A240T|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A220T|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A208T|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A252T|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A256T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	288					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGGGGTTTGCTATCGTATC	0.448																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(862-864)Gct>Act		solute carrier family 44, member 3	Choline(DB00122)						156.0	154.0	154.0					1																	95307657		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95307657G>A	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.862G>A	1.37:g.95307657G>A	ENSP00000271227:p.Ala288Thr					SLC44A3_ENST00000446120.2_Missense_Mutation_p.A252T|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A240T|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A208T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A256T|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A220T	p.A288T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	8	964	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	288					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.862G>A	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067782	0.93950	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	5.97	3.96	0.45880	.	0.086147	0.50627	D	0.000109	T	0.39937	0.1097	M	0.76170	2.325	0.41246	D	0.986679	D;D;D;D;D	0.67145	0.984;0.996;0.984;0.995;0.984	P;D;P;D;P	0.70487	0.85;0.969;0.85;0.927;0.85	T	0.43572	-0.9383	10	0.59425	D	0.04	-16.0188	14.2092	0.65753	0.0:0.0:0.6295:0.3705	.	208;252;220;256;288	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	T	252;288;220;256;240;208	ENSP00000389143:A252T;ENSP00000271227:A288T;ENSP00000433641:A220T;ENSP00000431836:A256T;ENSP00000432789:A240T;ENSP00000436661:A208T	ENSP00000271227:A288T	A	+	1	0	SLC44A3	95080245	1.000000	0.71417	0.864000	0.33941	0.460000	0.32559	3.785000	0.55424	1.493000	0.48517	0.655000	0.94253	GCT		0.448	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		12	68	0	0	0	1	0	12	68				
ZC3H14	79882	broad.mit.edu	37	14	89044394	89044394	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:89044394G>A	ENST00000251038.5	+	9	1414	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ZC3H14_ENST00000359301.3_Missense_Mutation_p.E363K|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E397K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E397K|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E242K|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E363K|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E397K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	397						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTGCTAGCAGAAGTGGTCCA	0.388																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1189-1191)Gaa>Aaa		zinc finger CCCH-type containing 14							92.0	94.0	94.0					14																	89044394		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89044394G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1189G>A	14.37:g.89044394G>A	ENSP00000251038:p.Glu397Lys					ZC3H14_ENST00000556945.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E242K|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E397K|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E363K|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E363K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E397K	p.E397K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			9	1414	+			397					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.1189G>A	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293350	0.80914	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693	.	.	.	5.51	5.51	0.81932	.	0.052158	0.85682	D	0.000000	T	0.76335	0.3973	M	0.64997	1.995	0.51233	D	0.999916	D;D;D;D;D;D	0.71674	0.974;0.996;0.998;0.996;0.998;0.996	P;D;D;P;D;P	0.80764	0.736;0.99;0.991;0.893;0.994;0.893	T	0.71411	-0.4601	9	0.27082	T	0.32	-25.195	17.963	0.89091	0.0:0.0:1.0:0.0	.	397;378;397;397;397;397	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;.;.;ZC3HE_HUMAN	K	397;397;397;363;397;378;397;242;397;397;363	.	ENSP00000251038:E397K	E	+	1	0	ZC3H14	88114147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.492000	0.81482	2.747000	0.94245	0.650000	0.86243	GAA		0.388	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		43	62	0	0	0	1	0	43	62				
FCRL5	83416	broad.mit.edu	37	1	157516858	157516858	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:157516858T>C	ENST00000361835.3	-	3	339	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Missense_Mutation_p.Y61C|FCRL5_ENST00000368188.2_Missense_Mutation_p.Y61C|FCRL5_ENST00000356953.4_Missense_Mutation_p.Y61C|FCRL5_ENST00000368190.3_Missense_Mutation_p.Y61C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	61	Ig-like C2-type 1.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTTCCCAAGGTACCGATGGTA	0.502																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(181-183)tAc>tGc		Fc receptor-like 5							134.0	130.0	131.0					1																	157516858		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157516858T>C	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.182A>G	1.37:g.157516858T>C	ENSP00000354691:p.Tyr61Cys					FCRL5_ENST00000356953.4_Missense_Mutation_p.Y61C|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.Y61C|FCRL5_ENST00000368190.3_Missense_Mutation_p.Y61C|FCRL5_ENST00000368189.3_Missense_Mutation_p.Y61C	p.Y61C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			3	339	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	61			Ig-like C2-type 1.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.182A>G	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285213	0.40394	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	T;T;T;T;T	0.46451	0.87;0.88;0.87;1.16;3.99	3.62	3.62	0.41486	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51058	0.1652	M	0.84511	2.7	0.09310	N	1	D;D;D;D	0.76494	0.998;0.997;0.999;0.998	D;D;D;D	0.69142	0.936;0.962;0.927;0.962	T	0.36187	-0.9758	9	0.39692	T	0.17	.	8.9039	0.35512	0.0:0.0:0.0:1.0	.	61;61;61;61	Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;FCRL5_HUMAN	C	61	ENSP00000354691:Y61C;ENSP00000349434:Y61C;ENSP00000357173:Y61C;ENSP00000357172:Y61C;ENSP00000357171:Y61C	ENSP00000349434:Y61C	Y	-	2	0	FCRL5	155783482	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.412000	0.21131	1.884000	0.54569	0.528000	0.53228	TAC		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		29	68	0	0	0	1	0	29	68				
ANKRD18DP	348840	broad.mit.edu	37	3	197803880	197803880	+	RNA	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:197803880C>T	ENST00000435620.2	-	0	474					NR_003291.1				ankyrin repeat domain 18D, pseudogene																		TGGCAATATACAGCCTGTCAG	0.368																																						ENST00000435620.2																			0																				201.0	150.0	166.0					3																	197803880		692	1591	2283			0							g.chr3:197803880C>T	BC042518		3q29	2011-11-23			ENSG00000226435	ENSG00000226435			28016	pseudogene	pseudogene							Standard	NR_003291		Approved		uc003fyx.3		OTTHUMG00000150228		3.37:g.197803880C>T								NR_003291.1						0	474	-									RNA	SNP	ENST00000435620.2	37																																																																																						0.368	ANKRD18DP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316910.2	NR_003291		3	34	0	0	0	1	0	3	34				
OR4A47	403253	broad.mit.edu	37	11	48511063	48511063	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:48511063C>A	ENST00000446524.1	+	1	795	c.719C>A	c.(718-720)tCc>tAc	p.S240Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTGCAGTTCCCACATGACT	0.413																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(718-720)tCc>tAc		olfactory receptor, family 4, subfamily A, member 47							168.0	162.0	164.0					11																	48511063		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511063C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.719C>A	11.37:g.48511063C>A	ENSP00000412752:p.Ser240Tyr						p.S240Y	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	795	+			240						Missense_Mutation	SNP	ENST00000446524.1	37	c.719C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	15.84	2.951670	0.53186	.	.	ENSG00000237388	ENST00000446524	T	0.39406	1.08	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.80265	0.4591	H	0.99668	4.69	0.40075	D	0.976062	D	0.89917	1.0	D	0.97110	1.0	D	0.89715	0.3915	10	0.87932	D	0	.	14.873	0.70474	0.0:1.0:0.0:0.0	.	240	Q6IF82	O4A47_HUMAN	Y	240	ENSP00000412752:S240Y	ENSP00000412752:S240Y	S	+	2	0	OR4A47	48467639	0.622000	0.27085	0.967000	0.41034	0.369000	0.29798	4.432000	0.59922	2.082000	0.62665	0.205000	0.17691	TCC		0.413	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		13	141	1	0	4.3838e-07	1	4.89954e-07	13	141				
CEP97	79598	broad.mit.edu	37	3	101446274	101446274	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:101446274G>A	ENST00000341893.3	+	3	986	c.234G>A	c.(232-234)aaG>aaA	p.K78K	CEP97_ENST00000494050.1_Silent_p.K78K|CEP97_ENST00000327230.4_Silent_p.K78K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	78					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGTGGCCAAGCTGACGTTGC	0.373																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(232-234)aaG>aaA		centrosomal protein 97kDa							156.0	154.0	155.0					3																	101446274		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101446274G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.234G>A	3.37:g.101446274G>A						CEP97_ENST00000327230.4_Silent_p.K78K|CEP97_ENST00000494050.1_Silent_p.K78K	p.K78K			Q8IW35	CEP97_HUMAN			3	986	+			78					B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.234G>A	CCDS2944.1																																																																																				0.373	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		5	160	0	0	0	1	0	5	160				
ATRAID	51374	broad.mit.edu	37	2	27438348	27438348	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27438348G>A	ENST00000606999.1	+	4	358	c.300G>A	c.(298-300)ctG>ctA	p.L100L	ATRAID_ENST00000405489.3_Silent_p.L42L|CAD_ENST00000264705.4_5'Flank|ATRAID_ENST00000380171.3_Silent_p.L155L|CAD_ENST00000403525.1_5'Flank	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	100					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											GCAGAGACCTGCAAGCAAACC	0.468																																						ENST00000380171.3																			0											c.(463-465)ctG>ctA		all-trans retinoic acid-induced differentiation factor							110.0	103.0	105.0					2																	27438348		2203	4300	6503	SO:0001819	synonymous_variant	51374							g.chr2:27438348G>A	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.300G>A	2.37:g.27438348G>A						ATRAID_ENST00000606999.1_Silent_p.L100L|ATRAID_ENST00000405489.3_Silent_p.L42L	p.L155L	NM_080592.3	NP_542159.3					4	642	+								A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Silent	SNP	ENST00000606999.1	37	c.465G>A																																																																																					0.468	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		44	78	0	0	0	1	0	44	78				
UCN2	90226	broad.mit.edu	37	3	48600467	48600467	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:48600467G>A	ENST00000273610.3	-	2	173	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	PFKFB4_ENST00000536104.1_5'Flank|COL7A1_ENST00000470076.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGAGGGCGGAGCTGGAAG	0.632																																						ENST00000273610.3																			0											c.(91-93)Cgc>Tgc		urocortin 2							43.0	42.0	43.0					3																	48600467		2203	4300	6503	SO:0001583	missense	90226				cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding	g.chr3:48600467G>A	AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"""Endogenous ligands"""	18414	protein-coding gene	gene with protein product	"""prepro-urocortin 2"""	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.91C>T	3.37:g.48600467G>A	ENSP00000273610:p.Arg31Cys						p.R31C	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	173	-			31					Q9BUG0	Missense_Mutation	SNP	ENST00000273610.3	37	c.91C>T	CCDS2772.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361816	0.24684	.	.	ENSG00000145040	ENST00000273610	.	.	.	5.28	-5.37	0.02681	.	1.516670	0.04388	N	0.361943	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25710	-1.0124	9	0.45353	T	0.12	-14.0371	8.6603	0.34088	0.653:0.0:0.2301:0.1169	.	31	Q96RP3	UCN2_HUMAN	C	31	.	ENSP00000273610:R31C	R	-	1	0	UCN2	48575471	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.633000	0.05483	-1.124000	0.02936	-0.734000	0.03567	CGC		0.632	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257510.1	NM_033199		3	19	0	0	0	1	0	3	19				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			48	69	0	0	0	1	0	48	69				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	39	0	0	0	1	0	5	39				
NTRK1	4914	broad.mit.edu	37	1	156845863	156845863	+	Intron	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:156845863C>T	ENST00000524377.1	+	13	1542				NTRK1_ENST00000358660.3_Splice_Site_p.S495F|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000368196.3_Intron	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	ACCCTGCAAGCCCCCTCAGGT	0.637			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000358660.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.e12-1		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						67.0	69.0	68.0					1																	156845863		2203	4300	6503	SO:0001627	intron_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845863C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1502-9C>T	1.37:g.156845863C>T		TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Intron|NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000392302.2_Intron	p.S495_splice			P04629	NTRK1_HUMAN			12	1525	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		501					B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Splice_Site	SNP	ENST00000524377.1	37	c.1483_splice	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835051	0.50951	.	.	ENSG00000198400	ENST00000358660	T	0.77358	-1.09	4.73	-0.809	0.10864	.	.	.	.	.	T	0.32102	0.0818	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	7	.	.	.	.	1.1619	0.01808	0.1289:0.2916:0.2526:0.3269	.	495	A8K3Z4	.	F	495	ENSP00000351486:S495F	.	S	+	2	0	NTRK1	155112487	0.000000	0.05858	0.044000	0.18714	0.910000	0.53928	-0.440000	0.06888	-0.052000	0.13311	0.407000	0.27541	TCC		0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		39	108	0	0	0	1	0	39	108				
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	45										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(133-135)ggC>ggG																																						SO:0001819	synonymous_variant	0							g.chr20:29625891C>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.135C>G	20.37:g.29625891C>G						FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G	p.G45G							5	515	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.135C>G																																																																																					0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	114	0	0	0	1	0	4	114				
F13A1	2162	broad.mit.edu	37	6	6266847	6266847	+	Missense_Mutation	SNP	C	C	T	rs376147795		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:6266847C>T	ENST00000264870.3	-	4	780	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458																																						ENST00000264870.3																			1	Substitution - Missense(1)	p.R172Q(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(514-516)cGa>cAa		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	139.0	126.0	131.0		515	5.7	0.9	6		131	0,8600		0,0,4300	no	missense	F13A1	NM_000129.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	172/733	6266847	1,13005	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266847C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.515G>A	6.37:g.6266847C>T	ENSP00000264870:p.Arg172Gln						p.R172Q	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			4	780	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	172					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.515G>A	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593713	0.46214	2.27E-4	0.0	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.81996	-1.56	5.65	5.65	0.86999	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.200049	0.40144	N	0.001178	D	0.85106	0.5621	L	0.55213	1.73	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80353	-0.1418	10	0.10377	T	0.69	.	18.7279	0.91722	0.0:1.0:0.0:0.0	.	109;172	F5H080;P00488	.;F13A_HUMAN	Q	172;109	ENSP00000264870:R172Q	ENSP00000264870:R172Q	R	-	2	0	F13A1	6211846	0.998000	0.40836	0.940000	0.37924	0.150000	0.21749	6.460000	0.73518	2.660000	0.90430	0.655000	0.94253	CGA		0.458	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		64	118	0	0	0	1	0	64	118				
CACHD1	57685	broad.mit.edu	37	1	65141193	65141193	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:65141193T>C	ENST00000371073.2	+	20	2837	c.2837T>C	c.(2836-2838)cTt>cCt	p.L946P	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.L895P			Q5VU97	CAHD1_HUMAN	cache domain containing 1	946	Cys-rich.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCGACTCTCTTGCCTTCTGT	0.478											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2836-2838)cTt>cCt		cache domain containing 1							238.0	207.0	218.0					1																	65141193		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65141193T>C	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2837T>C	1.37:g.65141193T>C	ENSP00000360113:p.Leu946Pro		OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1081	CACHD1_ENST00000290039.5_Missense_Mutation_p.L895P|CACHD1_ENST00000495994.1_3'UTR	p.L946P			Q5VU97	CAHD1_HUMAN			20	2837	+			946			Cys-rich.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2837T>C		.	.	.	.	.	.	.	.	.	.	T	22.7	4.323834	0.81580	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24908	1.83;1.84	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	L	0.39898	1.24	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.02893	-1.1097	10	0.35671	T	0.21	-17.4966	16.2194	0.82247	0.0:0.0:0.0:1.0	.	946	Q5VU97	CAHD1_HUMAN	P	946;895	ENSP00000360113:L946P;ENSP00000290039:L895P	ENSP00000290039:L895P	L	+	2	0	CACHD1	64913781	1.000000	0.71417	0.996000	0.52242	0.782000	0.44232	7.665000	0.83852	2.234000	0.73211	0.528000	0.53228	CTT		0.478	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		5	133	0	0	0	1	0	5	133				
TMBIM4	51643	broad.mit.edu	37	12	66531809	66531809	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:66531809G>T	ENST00000358230.3	-	7	768	c.648C>A	c.(646-648)agC>agA	p.S216R	TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000542724.1_Missense_Mutation_p.S185R|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.S39R|TMBIM4_ENST00000286424.7_Missense_Mutation_p.S263R|TMBIM4_ENST00000539652.1_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	216					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CCAAGTAGAGGCTGATGGCAG	0.413																																						ENST00000358230.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9						c.(646-648)agC>agA		transmembrane BAX inhibitor motif containing 4							134.0	131.0	132.0					12																	66531809		1931	4137	6068	SO:0001583	missense	51643					integral to membrane	protein binding	g.chr12:66531809G>T	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.648C>A	12.37:g.66531809G>T	ENSP00000350965:p.Ser216Arg					TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.S39R|TMBIM4_ENST00000542724.1_Missense_Mutation_p.S185R|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.S263R	p.S216R	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	768	-			216					Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	37	c.648C>A	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588257	0.66105	.	.	ENSG00000155957	ENST00000358230;ENST00000544599;ENST00000286424;ENST00000539427;ENST00000542724	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.73	2.91	0.33838	.	0.195220	0.52532	D	0.000065	T	0.43722	0.1260	L	0.39020	1.185	0.80722	D	1	B;B;B	0.33103	0.185;0.397;0.154	B;B;B	0.44224	0.205;0.444;0.261	T	0.16660	-1.0395	9	.	.	.	-1.1212	10.273	0.43493	0.2753:0.0:0.7247:0.0	.	263;185;216	G3XAA5;G3V1M2;Q9HC24	.;.;TMBI4_HUMAN	R	216;39;263;261;185	ENSP00000350965:S216R;ENSP00000444639:S39R;ENSP00000286424:S263R;ENSP00000441291:S185R	.	S	-	3	2	TMBIM4	64818076	1.000000	0.71417	0.971000	0.41717	0.968000	0.65278	1.589000	0.36644	0.432000	0.26286	0.655000	0.94253	AGC		0.413	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		4	129	1	0	0.00198382	1	0.00206534	4	129				
COG5	10466	broad.mit.edu	37	7	106851543	106851543	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:106851543C>T	ENST00000347053.3	-	19	2376		c.e19+1		COG5_ENST00000297135.3_Splice_Site|COG5_ENST00000393603.2_Splice_Site	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTATTTATTACCTGGAAAGGA	0.468																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.e20+1		component of oligomeric golgi complex 5							81.0	79.0	80.0					7																	106851543		2203	4300	6503	SO:0001630	splice_region_variant	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106851543C>T	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2325+1G>A	7.37:g.106851543C>T						COG5_ENST00000347053.3_Splice_Site|COG5_ENST00000297135.3_Splice_Site		NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			20	2660	-								A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Splice_Site	SNP	ENST00000347053.3	37		CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147224	0.57151	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COG5	106638779	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	6.767000	0.74975	2.884000	0.98904	0.655000	0.94253	.		0.468	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4		Intron	28	67	0	0	0	1	0	28	67				
RET	5979	broad.mit.edu	37	10	43622043	43622043	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:43622043G>A	ENST00000355710.3	+	19	3292	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	RET_ENST00000340058.5_Silent_p.A1020A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1020					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCTTGCGGCGTCCACTCCAT	0.552		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3058-3060)gcG>gcA		ret proto-oncogene	Sunitinib(DB01268)						240.0	227.0	231.0					10																	43622043		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622043G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3060G>A	10.37:g.43622043G>A						RET_ENST00000340058.5_Silent_p.A1020A	p.A1020A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3292	+		Ovarian(717;0.0423)	1020					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.3060G>A	CCDS7200.1																																																																																				0.552	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		176	240	0	0	0	1	0	176	240				
FNDC1	84624	broad.mit.edu	37	6	159618496	159618496	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:159618496T>C	ENST00000297267.9	+	2	343	c.143T>C	c.(142-144)cTg>cCg	p.L48P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L48P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	48	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATGTGAAACTGCTGTCCACT	0.453																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(142-144)cTg>cCg		fibronectin type III domain containing 1							156.0	146.0	150.0					6																	159618496		1960	4147	6107	SO:0001583	missense	84624					extracellular region		g.chr6:159618496T>C	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.143T>C	6.37:g.159618496T>C	ENSP00000297267:p.Leu48Pro					FNDC1_ENST00000340366.6_Missense_Mutation_p.L48P	p.L48P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	2	343	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	48			Fibronectin type-III 1.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.143T>C	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143678	0.57044	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.58940	0.3;0.3	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.31358	N	0.007800	T	0.54159	0.1841	N	0.19112	0.55	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	T	0.64407	-0.6415	10	0.87932	D	0	-17.4006	13.214	0.59844	0.0:0.0:0.0:1.0	.	48	Q4ZHG4	FNDC1_HUMAN	P	48	ENSP00000297267:L48P;ENSP00000342460:L48P	ENSP00000297267:L48P	L	+	2	0	FNDC1	159538484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.000000	0.63940	2.371000	0.80710	0.533000	0.62120	CTG		0.453	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		60	144	0	0	0	1	0	60	144				
TRIM54	57159	broad.mit.edu	37	2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27505759G>A	ENST00000380075.2	+	1	500	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000296098.4_Missense_Mutation_p.V54I	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(160-162)Gtc>Atc		tripartite motif containing 54							177.0	156.0	163.0					2																	27505759		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505759G>A	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.160G>A	2.37:g.27505759G>A	ENSP00000369415:p.Val54Ile					TRIM54_ENST00000380075.2_Missense_Mutation_p.V54I	p.V54I	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			1	430	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		54					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.160G>A	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491292	0.12702	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.16743	2.32;2.32	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.072630	0.64402	D	0.000018	T	0.09158	0.0226	N	0.10972	0.075	0.58432	D	0.999997	B;B	0.18013	0.003;0.025	B;B	0.15870	0.009;0.014	T	0.08371	-1.0725	10	0.02654	T	1	-26.3073	16.858	0.86010	0.0:0.0:1.0:0.0	.	54;54	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	I	54	ENSP00000369415:V54I;ENSP00000296098:V54I	ENSP00000296098:V54I	V	+	1	0	TRIM54	27359263	0.116000	0.22171	0.997000	0.53966	0.939000	0.58152	0.567000	0.23608	2.568000	0.86640	0.462000	0.41574	GTC		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		112	191	0	0	0	1	0	112	191				
SLC5A8	160728	broad.mit.edu	37	12	101573832	101573832	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:101573832G>A	ENST00000536262.2	-	10	1766	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAAGTGACGCCAGCGCAGC	0.443																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1207-1209)gCg>gTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							166.0	163.0	164.0					12																	101573832		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101573832G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1208C>T	12.37:g.101573832G>A	ENSP00000445340:p.Ala403Val						p.A403V	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			10	1766	-			403						Missense_Mutation	SNP	ENST00000536262.2	37	c.1208C>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363988	0.82353	.	.	ENSG00000256870	ENST00000536262	D	0.88201	-2.35	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.90717	0.7087	L	0.38692	1.165	0.80722	D	1	D	0.69078	0.997	P	0.59825	0.864	D	0.88678	0.3200	10	0.31617	T	0.26	.	19.7509	0.96268	0.0:0.0:1.0:0.0	.	403	Q8N695	SC5A8_HUMAN	V	403	ENSP00000445340:A403V	ENSP00000445340:A403V	A	-	2	0	SLC5A8	100097963	1.000000	0.71417	0.930000	0.37139	0.173000	0.22820	8.180000	0.89694	2.770000	0.95276	0.650000	0.86243	GCG		0.443	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		63	168	0	0	0	1	0	63	168				
NPAS3	64067	broad.mit.edu	37	14	34269615	34269615	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:34269615G>A	ENST00000356141.4	+	12	2102	c.2102G>A	c.(2101-2103)gGt>gAt	p.G701D	NPAS3_ENST00000548645.1_Missense_Mutation_p.G671D|NPAS3_ENST00000346562.2_Missense_Mutation_p.G669D|NPAS3_ENST00000551492.1_Missense_Mutation_p.G706D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G688D			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	701	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGCGGTGGGGGTGGCGGTGGC	0.746																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2005-2007)gGt>gAt		neuronal PAS domain protein 3							11.0	15.0	14.0					14																	34269615		2093	4098	6191	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269615G>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2102G>A	14.37:g.34269615G>A	ENSP00000348460:p.Gly701Asp					NPAS3_ENST00000551492.1_Missense_Mutation_p.G706D|NPAS3_ENST00000548645.1_Missense_Mutation_p.G671D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G688D|NPAS3_ENST00000356141.4_Missense_Mutation_p.G701D	p.G669D	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2080	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		701					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.2006G>A	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	3.077	-0.189850	0.06299	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	4.61	2.52	0.30459	.	0.338992	0.20516	N	0.090786	T	0.46054	0.1373	N	0.08118	0	0.58432	D	0.999991	P;B;P;P	0.35208	0.49;0.358;0.49;0.49	B;B;B;B	0.34824	0.19;0.093;0.19;0.19	T	0.28586	-1.0039	10	0.15952	T	0.53	.	10.3373	0.43858	0.0:0.3906:0.6094:0.0	.	671;701;669;688	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	D	675;706;669;671;701;688	ENSP00000448373:G675D;ENSP00000450392:G706D;ENSP00000319610:G669D;ENSP00000448916:G671D;ENSP00000348460:G701D;ENSP00000350446:G688D	ENSP00000319610:G669D	G	+	2	0	NPAS3	33339366	.	.	0.729000	0.30791	0.062000	0.15995	.	.	0.983000	0.38602	0.555000	0.69702	GGT		0.746	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			3	54	0	0	0	1	0	3	54				
RS1	6247	broad.mit.edu	37	X	18665417	18665417	+	Missense_Mutation	SNP	C	C	G	rs62645900		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:18665417C>G	ENST00000379984.3	-	4	260	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	74	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.		G -> V (in XLRS1). {ECO:0000269|PubMed:10234514, ECO:0000269|PubMed:10533068}.		adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GTGACCTCCCCTGACTCGAAA	0.507																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(220-222)Ggg>Cgg		retinoschisin 1							90.0	82.0	84.0					X																	18665417		2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18665417C>G	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.220G>C	X.37:g.18665417C>G	ENSP00000369320:p.Gly74Arg					RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	p.G74R	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			4	260	-	Hepatocellular(33;0.183)		74		G -> V (in XLRS1).	F5/8 type C.		Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.220G>C	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619283	0.87460	.	.	ENSG00000102104	ENST00000379984	D	0.99129	-5.46	5.43	5.43	0.79202	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.094339	0.85682	D	0.000000	D	0.98868	0.9617	M	0.68952	2.095	0.58432	D	0.999999	D	0.69078	0.997	D	0.64410	0.925	D	0.98959	1.0797	10	0.54805	T	0.06	.	11.8151	0.52204	0.0:0.9176:0.0:0.0824	.	74	O15537	XLRS1_HUMAN	R	74	ENSP00000369320:G74R	ENSP00000369320:G74R	G	-	1	0	RS1	18575338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.778000	0.68940	2.265000	0.75225	0.523000	0.50628	GGG		0.507	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			15	46	0	0	0	1	0	15	46				
ELTD1	64123	broad.mit.edu	37	1	79470843	79470843	+	Silent	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:79470843G>C	ENST00000370742.3	-	2	147	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	28	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGCATTTGGGAGACAAGGTG	0.343																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(82-84)ctC>ctG		EGF, latrophilin and seven transmembrane domain containing 1							115.0	101.0	106.0					1																	79470843		1846	4096	5942	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470843G>C	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.84C>G	1.37:g.79470843G>C							p.L28L	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	147	-			28			EGF-like 1.		B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.84C>G	CCDS41352.1																																																																																				0.343	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		49	17	0	0	0	1	0	49	17				
TP53I3	9540	broad.mit.edu	37	2	24299092	24299092	+	IGR	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:24299092A>T	ENST00000238721.4	-	0	1998				SF3B14_ENST00000233468.4_Missense_Mutation_p.M3K	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3						NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGCTTGCATCGCCATCTT	0.567																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(7-9)aTg>aAg									141.0	129.0	133.0					2																	24299092		2203	4300	6503	SO:0001628	intergenic_variant	0				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24299092A>T	AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817		2.37:g.24299092A>T							p.M3K	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			1	221	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3					D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	c.8T>A	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767295	0.69878	.	.	ENSG00000115128	ENST00000233468	T	0.30714	1.52	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	L	0.44542	1.39	0.80722	D	1	B	0.31026	0.304	B	0.26310	0.068	T	0.10382	-1.0632	10	0.59425	D	0.04	0.7596	13.0279	0.58825	1.0:0.0:0.0:0.0	.	3	Q9Y3B4	PM14_HUMAN	K	3	ENSP00000233468:M3K	ENSP00000233468:M3K	M	-	2	0	AC008073.5	24152596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.205000	0.89743	1.966000	0.57179	0.459000	0.35465	ATG		0.567	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2	NM_004881		61	142	0	0	0	1	0	61	142				
NT5DC2	64943	broad.mit.edu	37	3	52561696	52561696	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:52561696C>A	ENST00000307076.4	-	9	1263	c.863G>T	c.(862-864)cGc>cTc	p.R288L	NT5DC2_ENST00000459839.1_Missense_Mutation_p.R300L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R229L|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R325L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	288							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGAGCTGGCGCCAATCGGG	0.627																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(862-864)cGc>cTc		5'-nucleotidase domain containing 2							82.0	64.0	70.0					3																	52561696		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52561696C>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.863G>T	3.37:g.52561696C>A	ENSP00000302468:p.Arg288Leu					NT5DC2_ENST00000459839.1_Missense_Mutation_p.R300L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R229L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R325L	p.R288L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	9	1263	-			288					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.863G>T	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716799	0.89205	.	.	ENSG00000168268	ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	4.64	4.64	0.57946	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.84683	2.71	0.80722	D	1	D;P;P	0.55385	0.971;0.712;0.815	P;P;P	0.61328	0.887;0.626;0.734	T	0.67707	-0.5601	10	0.72032	D	0.01	-17.4989	17.5579	0.87897	0.0:1.0:0.0:0.0	.	300;288;325	C9JTZ6;Q9H857;E9PAL9	.;NT5D2_HUMAN;.	L	229;2;288;325;300	ENSP00000306017:R229L;ENSP00000418780:R2L;ENSP00000302468:R288L;ENSP00000406933:R325L;ENSP00000419547:R300L	ENSP00000302468:R288L	R	-	2	0	NT5DC2	52536736	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.794000	0.85869	2.125000	0.65367	0.306000	0.20318	CGC		0.627	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		3	80	1	0	0.150653	1	0.150653	3	80				
AHNAK2	113146	broad.mit.edu	37	14	105409805	105409805	+	Missense_Mutation	SNP	C	C	T	rs369971630		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:105409805C>T	ENST00000333244.5	-	7	12102	c.11983G>A	c.(11983-11985)Gcg>Acg	p.A3995T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3995						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTTGGCGCGGTCACATCC	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11983-11985)Gcg>Acg		AHNAK nucleoprotein 2		C	THR/ALA	1,4059		0,1,2029	168.0	177.0	174.0		11983	-5.7	0.0	14		174	0,8358		0,0,4179	no	missense	AHNAK2	NM_138420.2	58	0,1,6208	TT,TC,CC		0.0,0.0246,0.0081	possibly-damaging	3995/5796	105409805	1,12417	2030	4179	6209	SO:0001583	missense	113146					nucleus		g.chr14:105409805C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11983G>A	14.37:g.105409805C>T	ENSP00000353114:p.Ala3995Thr					AHNAK2_ENST00000557457.1_Intron	p.A3995T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12102	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3995					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11983G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	12.14	1.850116	0.32699	2.46E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00737	5.76	4.08	-5.7	0.02421	.	.	.	.	.	T	0.00936	0.0031	M	0.69358	2.11	0.09310	N	1	P	0.36753	0.568	B	0.31390	0.129	T	0.37934	-0.9684	9	0.13853	T	0.58	.	12.7748	0.57441	0.0:0.6562:0.1768:0.167	.	3995	Q8IVF2	AHNK2_HUMAN	T	3995	ENSP00000353114:A3995T	ENSP00000353114:A3995T	A	-	1	0	AHNAK2	104480850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.222000	0.01215	-0.814000	0.04352	0.306000	0.20318	GCG		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		118	198	0	0	0	1	0	118	198				
PCDHGA2	56113	broad.mit.edu	37	5	140718979	140718979	+	Silent	SNP	G	G	T	rs200844226		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:140718979G>T	ENST00000394576.2	+	1	441	c.441G>T	c.(439-441)acG>acT	p.T147T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACCACTACGCCAGGATTCC	0.458																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(439-441)acG>acT									69.0	70.0	70.0					5																	140718979		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140718979G>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.441G>T	5.37:g.140718979G>T						PCDHGA1_ENST00000517417.1_Intron	p.T147T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	441	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.441G>T	CCDS47289.1																																																																																				0.458	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		5	112	1	0	0.0293803	1	0.0301744	5	112				
SOAT1	6646	broad.mit.edu	37	1	179316745	179316745	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:179316745T>G	ENST00000367619.3	+	12	1271	c.1128T>G	c.(1126-1128)atT>atG	p.I376M	SOAT1_ENST00000539888.1_Missense_Mutation_p.I311M|SOAT1_ENST00000535686.1_Missense_Mutation_p.I112M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I318M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	376					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGTGCTGATTCTCTTCCTTA	0.348																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1126-1128)atT>atG		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						232.0	206.0	215.0					1																	179316745		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179316745T>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1128T>G	1.37:g.179316745T>G	ENSP00000356591:p.Ile376Met					SOAT1_ENST00000539888.1_Missense_Mutation_p.I311M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I318M|SOAT1_ENST00000535686.1_Missense_Mutation_p.I112M	p.I376M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			12	1271	+			376					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1128T>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	T	5.311	0.242709	0.10077	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.81	-11.6	0.00059	.	0.585786	0.18813	N	0.130449	T	0.36386	0.0965	N	0.16903	0.455	0.21499	N	0.999662	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.007	T	0.31833	-0.9929	10	0.11485	T	0.65	-12.3343	4.4266	0.11505	0.1634:0.1304:0.4432:0.263	.	318;376	A8K3P4;P35610	.;SOAT1_HUMAN	M	311;318;112;376	ENSP00000441356:I311M;ENSP00000445315:I318M;ENSP00000442503:I112M;ENSP00000356591:I376M	ENSP00000356591:I376M	I	+	3	3	SOAT1	177583368	0.000000	0.05858	0.000000	0.03702	0.380000	0.30137	-1.871000	0.01640	-3.201000	0.00217	0.482000	0.46254	ATT		0.348	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		6	65	0	0	0	1	0	6	65				
SLC26A5	375611	broad.mit.edu	37	7	103018911	103018911	+	Missense_Mutation	SNP	G	G	T	rs375613469		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018911G>T	ENST00000306312.3	-	17	2028	c.1767C>A	c.(1765-1767)aaC>aaA	p.N589K	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.N22K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N589K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N557K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.N589K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N552K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	589	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAACAGTTGCGTTGGCCATAT	0.448																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(1765-1767)aaC>aaA		solute carrier family 26 (anion exchanger), member 5							257.0	204.0	222.0					7																	103018911		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103018911G>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1767C>A	7.37:g.103018911G>T	ENSP00000304783:p.Asn589Lys					SLC26A5_ENST00000339444.6_Missense_Mutation_p.N589K|SLC26A5_ENST00000354356.4_Missense_Mutation_p.N22K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N557K|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N589K|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N552K	p.N589K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			17	2028	-			589			STAS.		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.1767C>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	9.941	1.217436	0.22373	.	.	ENSG00000170615	ENST00000339444;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.95205	-3.09;-3.14;-3.14;-3.14;-3.64;-3.06;-3.08;-3.02	5.53	-8.73	0.00841	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.670270	0.15467	N	0.260802	T	0.73860	0.3641	N	0.02539	-0.55	0.19575	N	0.999964	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12837	0.007;0.008;0.003	T	0.75687	-0.3231	10	0.05436	T	0.98	.	4.0597	0.09832	0.5606:0.1461:0.1631:0.1302	.	589;557;589	P58743;Q496J2;P58743-2	S26A5_HUMAN;.;.	K	589;589;557;557;22;552;589;557	ENSP00000342396:N589K;ENSP00000304783:N589K;ENSP00000377331:N557K;ENSP00000389733:N557K;ENSP00000346325:N22K;ENSP00000377330:N552K;ENSP00000377328:N589K;ENSP00000377324:N557K	ENSP00000304783:N589K	N	-	3	2	SLC26A5	102806147	0.000000	0.05858	0.371000	0.25978	0.426000	0.31534	-3.355000	0.00500	-1.282000	0.02396	-0.151000	0.13558	AAC		0.448	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		18	150	1	0	1.64113e-05	1	1.7818e-05	18	150				
KCND2	3751	broad.mit.edu	37	7	119914854	119914854	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:119914854G>A	ENST00000331113.4	+	1	1133	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	56					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGACGTGGCAGGACACCCTGG	0.567																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(166-168)caG>caA		potassium voltage-gated channel, Shal-related subfamily, member 2							127.0	133.0	131.0					7																	119914854		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914854G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.168G>A	7.37:g.119914854G>A							p.Q56Q	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1133	+	all_neural(327;0.117)		56					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.168G>A	CCDS5776.1																																																																																				0.567	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		10	232	0	0	0	1	0	10	232				
FAM86C2P	645332	broad.mit.edu	37	11	67560630	67560630	+	RNA	SNP	A	A	G	rs550931172	byFrequency	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:67560630A>G	ENST00000528089.1	-	0	1120							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GAGTGACTTGATTCTCACAAT	0.428													.|||	33	0.00658946	0.0182	0.0072	5008	,	,		19802	0.0		0.003	False		,,,				2504	0.001					ENST00000528089.1																			0																																																			0							g.chr11:67560630A>G			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560630A>G														0	1120	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.428	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			3	101	0	0	0	1	0	3	101				
DRC7	84229	broad.mit.edu	37	16	57732824	57732824	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr16:57732824C>G	ENST00000360716.3	+	4	487	c.266C>G	c.(265-267)cCc>cGc	p.P89R	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.P89R|CCDC135_ENST00000336825.8_Missense_Mutation_p.P89R			Q8IY82	CC135_HUMAN		89					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAACACACCCAAGGAGGAA	0.577																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(265-267)cCc>cGc		coiled-coil domain containing 135							185.0	166.0	172.0					16																	57732824		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57732824C>G																												ENST00000360716.3:c.266C>G	16.37:g.57732824C>G	ENSP00000353942:p.Pro89Arg					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.P89R|CCDC135_ENST00000336825.8_Missense_Mutation_p.P89R	p.P89R			Q8IY82	CC135_HUMAN			4	487	+			89					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.266C>G	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459421	0.43736	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.75050	1.94;-0.9;1.94	5.7	1.48	0.22813	.	0.955817	0.08699	N	0.906706	T	0.67906	0.2943	L	0.57536	1.79	0.09310	N	1	P;P	0.46912	0.886;0.546	P;B	0.45712	0.491;0.286	T	0.53272	-0.8462	10	0.20519	T	0.43	-7.8454	1.8705	0.03207	0.1263:0.447:0.1232:0.3035	.	89;89	Q8IY82-2;Q8IY82	.;CC135_HUMAN	R	89	ENSP00000377869:P89R;ENSP00000338938:P89R;ENSP00000353942:P89R	ENSP00000338938:P89R	P	+	2	0	CCDC135	56290325	0.000000	0.05858	0.175000	0.22980	0.957000	0.61999	-0.035000	0.12205	0.038000	0.15604	0.643000	0.83706	CCC		0.577	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			43	227	0	0	0	1	0	43	227				
NELL2	4753	broad.mit.edu	37	12	45000951	45000951	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:45000951C>T	ENST00000429094.2	-	15	2168		c.e15+1		NELL2_ENST00000437801.2_Splice_Site|NELL2_ENST00000395487.2_Splice_Site|NELL2_ENST00000551601.1_Splice_Site|NELL2_ENST00000333837.4_Splice_Site|NELL2_ENST00000549027.1_Splice_Site|NELL2_ENST00000452445.2_Splice_Site	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATATTCTTACCCGTTTCACA	0.408																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.e15+1		NEL-like 2 (chicken)							66.0	64.0	65.0					12																	45000951		2203	4299	6502	SO:0001630	splice_region_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45000951C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1663+1G>A	12.37:g.45000951C>T						NELL2_ENST00000333837.4_Splice_Site|NELL2_ENST00000452445.2_Splice_Site|NELL2_ENST00000437801.2_Splice_Site|NELL2_ENST00000551601.1_Splice_Site|NELL2_ENST00000395487.2_Splice_Site|NELL2_ENST00000549027.1_Splice_Site		NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	15	2168	-	Lung SC(27;0.192)	Lung NSC(34;0.144)						B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Splice_Site	SNP	ENST00000429094.2	37		CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992277	0.93167	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NELL2	43287218	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.179000	0.77665	2.885000	0.99019	0.655000	0.94253	.		0.408	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	Intron	5	41	0	0	0	1	0	5	41				
TULP4	56995	broad.mit.edu	37	6	158902198	158902198	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:158902198G>A	ENST00000367097.3	+	8	2720	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	TULP4_ENST00000367094.2_Missense_Mutation_p.G455S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	455					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGGTGGGCGGCCCGTGCTA	0.617																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1363-1365)Ggc>Agc		tubby like protein 4							54.0	58.0	57.0					6																	158902198		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158902198G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1363G>A	6.37:g.158902198G>A	ENSP00000356064:p.Gly455Ser					TULP4_ENST00000367094.2_Missense_Mutation_p.G455S	p.G455S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	8	2720	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	455					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1363G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086421	0.76642	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.61742	0.08;0.08	5.31	5.31	0.75309	Tumour necrosis factor-like (1);	0.053822	0.64402	D	0.000001	T	0.33702	0.0872	L	0.40543	1.245	0.80722	D	1	P;B;P	0.43662	0.597;0.436;0.814	B;B;B	0.31547	0.035;0.077;0.132	T	0.30475	-0.9977	10	0.35671	T	0.21	-34.8182	18.9788	0.92747	0.0:0.0:1.0:0.0	.	455;455;455	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	S	455	ENSP00000356064:G455S;ENSP00000356061:G455S	ENSP00000356061:G455S	G	+	1	0	TULP4	158822186	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.222000	0.72249	2.491000	0.84063	0.561000	0.74099	GGC		0.617	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		3	65	0	0	0	1	0	3	65				
NBPF9	400818	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G	rs199822480	byFrequency	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:144815953A>G	ENST00000440491.2	+	4	550	c.550A>G	c.(550-552)Aat>Gat	p.N184D	NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	442	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.N184D(2)		NS(2)|prostate(1)	3						CAACGATGACAATGAAGATGT	0.423													.|||	2409	0.48103	0.388	0.4496	5008	,	,		14195	0.755		0.4533	False		,,,				2504	0.3753					ENST00000440491.2																			2	Substitution - Missense(2)	p.N184D(2)	kidney(2)	NS(2)|prostate(1)	3						c.(550-552)Aat>Gat		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144815953A>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.550A>G	1.37:g.144815953A>G	ENSP00000390934:p.Asn184Asp					NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR	p.N184D	NM_001037675.2	NP_001032764.1					4	550	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.550A>G		.	.	.	.	.	.	.	.	.	.	.	0.004	-2.349402	0.00219	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.02323	4.34;4.34	0.723	0.723	0.18231	DUF1220 (1);	.	.	.	.	T	0.00328	0.0010	.	.	.	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	7	0.02654	T	1	.	3.2222	0.06720	0.3262:0.0:0.6738:0.0	.	442	Q3BBV1	NBPFK_HUMAN	D	184	ENSP00000342975:N184D;ENSP00000390934:N184D	ENSP00000342975:N184D	N	+	1	0	NBPF9	143527310	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-1.711000	0.01886	-0.094000	0.12374	-1.032000	0.02404	AAT		0.423	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	200	0	0	0	1	0	7	200				
DENND1A	57706	broad.mit.edu	37	9	126164132	126164132	+	Intron	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:126164132G>A	ENST00000373624.2	-	20	1779				DENND1A_ENST00000394215.2_Missense_Mutation_p.A516V|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.A546V|MIR601_ENST00000385256.1_RNA	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GAACTTGGCCGCAAAATGGGT	0.483											OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373620.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1636-1638)gCg>gTg		DENN/MADD domain containing 1A							271.0	233.0	245.0					9																	126164132		2203	4300	6503	SO:0001627	intron_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126164132G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1577+1548C>T	9.37:g.126164132G>A			OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1547	DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373624.2_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.A516V|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000473039.1_Intron	p.A546V	NM_024820.2	NP_079096.2	Q8TEH3	DEN1A_HUMAN			21	1857	-			0					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1637C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	9.091	1.001749	0.19121	.	.	ENSG00000119522	ENST00000373620;ENST00000394215	T;T	0.07800	3.31;3.16	4.82	-1.01	0.10169	.	.	.	.	.	T	0.05914	0.0154	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	8	0.87932	D	0	.	4.9898	0.14209	0.5071:0.3097:0.1833:0.0	.	516;546	Q8TEH3-5;Q8TEH3-2	.;.	V	546;516	ENSP00000362722:A546V;ENSP00000377763:A516V	ENSP00000362722:A546V	A	-	2	0	DENND1A	125203953	0.001000	0.12720	0.005000	0.12908	0.008000	0.06430	0.478000	0.22212	-0.016000	0.14127	-0.487000	0.04747	GCG		0.483	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		4	170	0	0	0	1	0	4	170				
COL18A1	80781	broad.mit.edu	37	21	46924342	46924342	+	Missense_Mutation	SNP	G	G	T	rs552269448		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:46924342G>T	ENST00000359759.4	+	33	4006	c.3985G>T	c.(3985-3987)Gac>Tac	p.D1329Y	COL18A1_ENST00000400337.2_Missense_Mutation_p.D914Y|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.D1094Y			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1329	Triple-helical region 8 (COL8).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGGGAGACCGAGGTGA	0.706																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3985-3987)Gac>Tac		collagen, type XVIII, alpha 1							13.0	16.0	15.0					21																	46924342		1835	4025	5860	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46924342G>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3985G>T	21.37:g.46924342G>T	ENSP00000352798:p.Asp1329Tyr					COL18A1_ENST00000355480.5_Missense_Mutation_p.D1094Y|COL18A1_ENST00000400337.2_Missense_Mutation_p.D914Y|SLC19A1_ENST00000567670.1_Intron	p.D1329Y			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	33	4006	+			1329			Triple-helical region 8 (COL8).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3985G>T		.	.	.	.	.	.	.	.	.	.	G	14.48	2.548161	0.45383	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	4.48	4.48	0.54585	.	0.325822	0.31685	N	0.007227	D	0.94683	0.8285	L	0.58510	1.815	0.80722	D	1	D;D;D	0.67145	0.996;0.983;0.983	P;P;P	0.58873	0.819;0.847;0.847	D	0.95014	0.8154	10	0.66056	D	0.02	.	14.2659	0.66118	0.0:0.0:1.0:0.0	.	1329;1094;914	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	Y	914;914;1094;1329;1329;261	ENSP00000383191:D914Y;ENSP00000347665:D1094Y;ENSP00000352798:D1329Y;ENSP00000339118:D261Y	ENSP00000339118:D261Y	D	+	1	0	COL18A1	45748770	0.993000	0.37304	0.241000	0.24154	0.467000	0.32768	3.921000	0.56454	2.210000	0.71456	0.650000	0.86243	GAC		0.706	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			3	32	1	0	0.000602214	1	0.000644624	3	32				
LOXL2	4017	broad.mit.edu	37	8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:23167365G>A	ENST00000389131.3	-	10	2065	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	566	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AACATGGGCCGGTCCTCCAGG	0.657																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1696-1698)Cgg>Tgg		lysyl oxidase-like 2							47.0	44.0	45.0					8																	23167365		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167365G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1696C>T	8.37:g.23167365G>A	ENSP00000373783:p.Arg566Trp						p.R566W	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	10	2065	-		Prostate(55;0.0453)|Breast(100;0.143)	566			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1696C>T	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981396	0.74474	.	.	ENSG00000134013	ENST00000389131	T	0.33438	1.41	5.67	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	M	0.90425	3.115	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66779	-0.5837	10	0.59425	D	0.04	.	12.5577	0.56263	0.0:0.0:0.5482:0.4518	.	566;566	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	W	566	ENSP00000373783:R566W	ENSP00000373783:R566W	R	-	1	2	LOXL2	23223310	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.096000	0.41738	0.684000	0.31448	0.561000	0.74099	CGG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			3	68	0	0	0	1	0	3	68				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	75	0	0	0	1	0	3	75				
SLC7A9	11136	broad.mit.edu	37	19	33334813	33334813	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:33334813A>T	ENST00000023064.4	-	10	1213	c.1022T>A	c.(1021-1023)cTt>cAt	p.L341H	SLC7A9_ENST00000587772.1_Missense_Mutation_p.L341H|SLC7A9_ENST00000590341.1_Missense_Mutation_p.L341H	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	341					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GATGTAAGAAAGCACTTTGAG	0.562																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1021-1023)cTt>cAt		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						72.0	64.0	67.0					19																	33334813		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33334813A>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1022T>A	19.37:g.33334813A>T	ENSP00000023064:p.Leu341His					SLC7A9_ENST00000590341.1_Missense_Mutation_p.L341H|SLC7A9_ENST00000587772.1_Missense_Mutation_p.L341H	p.L341H	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			10	1213	-	Esophageal squamous(110;0.137)		341					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.1022T>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752138	0.89753	.	.	ENSG00000021488	ENST00000023064	D	0.92446	-3.04	5.37	5.37	0.77165	Amino acid permease domain (1);	0.062767	0.64402	D	0.000007	D	0.97545	0.9196	H	0.97516	4.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98965	1.0799	10	0.87932	D	0	.	15.0371	0.71757	1.0:0.0:0.0:0.0	.	341;341	Q53FY4;P82251	.;BAT1_HUMAN	H	341	ENSP00000023064:L341H	ENSP00000023064:L341H	L	-	2	0	SLC7A9	38026653	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.612000	0.82975	2.037000	0.60232	0.533000	0.62120	CTT		0.562	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			21	30	0	0	0	1	0	21	30				
FUBP1	8880	broad.mit.edu	37	1	78432569	78432570	+	Splice_Site	INS	-	-	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:78432569_78432570insG	ENST00000370768.2	-	6	494_495	c.413_414insC	c.(412-414)cct>ccCt	p.P138fs	FUBP1_ENST00000436586.2_Splice_Site_p.P159fs|FUBP1_ENST00000370767.1_Splice_Site_p.P138fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	138	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACATTACCAGGAGCTATCTG	0.312			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.e6+1		far upstream element (FUSE) binding protein 1																																				SO:0001630	splice_region_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78432569_78432570insG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.415+1->C	1.37:g.78432571_78432571dupG						FUBP1_ENST00000436586.2_Splice_Site_p.R159_splice|FUBP1_ENST00000370768.2_Splice_Site_p.R138_splice	p.R138_splice			Q96AE4	FUBP1_HUMAN			6	500_501	-			138			KH 1.		Q12828	Splice_Site	INS	ENST00000370768.2	37	c.415_splice	CCDS683.1																																																																																				0.312	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	Frame_Shift_Ins	30	42						30	42	---	---	---	---
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Intron	DEL	T	T	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:172578611delT	ENST00000351486.5	+	3	208				BNIP1_ENST00000231668.9_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(220-222)ttfs		BCL2/adenovirus E1B 19kDa interacting protein 1			,,,	16,4248		4,8,2120	126.0	120.0	122.0		,,,	-3.2	0.0	5		123	29,8225		6,17,4104	no	frameshift,frameshift,intron,intron	BNIP1	NM_013980.2,NM_013979.2,NM_013978.2,NM_001205.2	,,,	10,25,6224	A1A1,A1R,RR		0.3513,0.3752,0.3595	,,,	,,,	172578611	45,12473	2203	4300	6503	SO:0001627	intron_variant	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172578611delT	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.178-2714T>-	5.37:g.172578611delT						BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000351486.5_Intron	p.F76fs	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	324	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	59					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Frame_Shift_Del	DEL	ENST00000351486.5	37	c.220delT	CCDS4384.1																																																																																				0.348	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		7	97						7	97	---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31708253	31708253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:31708253delT	ENST00000375755.3	+	2	296	c.10delT	c.(10-12)ttafs	p.L4fs	MSH5_ENST00000375742.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375703.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375750.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375740.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000534153.4_Frame_Shift_Del_p.L4fs|MSH5-SAPCD1_ENST00000493662.2_Frame_Shift_Del_p.L4fs|CLIC1_ENST00000395892.1_5'Flank	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	4					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						CATGGCCTCCTTAGGAGCGAA	0.682								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(10-12)tafs									13.0	13.0	13.0					6																	31708253		2176	4275	6451	SO:0001589	frameshift_variant	0							g.chr6:31708253delT	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.10delT	6.37:g.31708253delT	ENSP00000364908:p.Leu4fs					MSH5_ENST00000375755.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375740.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375703.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000534153.4_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375742.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375750.3_Frame_Shift_Del_p.L4fs	p.L4fs							2	66	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Frame_Shift_Del	DEL	ENST00000375755.3	37	c.10delT	CCDS4720.1																																																																																				0.682	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			2	4						2	4	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-	rs370076329		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGCAGTGCCCACATGGAGAAG	0.572																																						ENST00000603901.1																			0																																																			0							g.chr7:142482025delA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482025delA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.572	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		2	4						2	4	---	---	---	---
ASB6	140459	broad.mit.edu	37	9	132401579	132401580	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:132401579_132401580delCT	ENST00000277458.4	-	4	577_578	c.412_413delAG	c.(412-414)agtfs	p.S139fs	ASB6_ENST00000450050.2_Frame_Shift_Del_p.S60fs|ASB6_ENST00000277459.4_Intron|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	139					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAAGGGGCTACTCTCGTGGATC	0.624																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(412-414)tfs		ankyrin repeat and SOCS box containing 6																																				SO:0001589	frameshift_variant	140459				intracellular signal transduction	cytoplasm		g.chr9:132401579_132401580delCT		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.412_413delAG	9.37:g.132401581_132401582delCT	ENSP00000277458:p.Ser139fs					ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Frame_Shift_Del_p.S60fs	p.S139fs	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			4	577_578	-		Ovarian(14;0.00556)	139					Q5SZB7|Q9BV15	Frame_Shift_Del	DEL	ENST00000277458.4	37	c.412_413delAG	CCDS6924.1																																																																																				0.624	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		25	54						25	54	---	---	---	---
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																						ENST00000487519.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(430-432)acfs		transcription factor A, mitochondrial							39.0	47.0	44.0					10																	60148570		2195	4296	6491	SO:0001589	frameshift_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148570delA	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs					TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	p.T144fs	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN			4	958	+			144					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	c.432delA	CCDS7253.1																																																																																				0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		7	72						7	72	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	9	168						9	168	---	---	---	---
SLCO3A1	28232	broad.mit.edu	37	15	92663795	92663796	+	Frame_Shift_Ins	INS	-	-	T	rs34062402		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:92663795_92663796insT	ENST00000318445.6	+	5	1324_1325	c.1110_1111insT	c.(1111-1113)tttfs	p.F371fs	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Frame_Shift_Ins_p.F371fs	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	371					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GCTTCGCTGCCTTTTTGGGGAA	0.584																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1108-1113)gcttttfs		solute carrier organic anion transporter family, member 3A1																																				SO:0001589	frameshift_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92663795_92663796insT	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1115dupT	15.37:g.92663800_92663800dupT	ENSP00000320634:p.Phe371fs					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Frame_Shift_Ins_p.AF370fs	p.AF370fs	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		5	1324_1325	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		370					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Frame_Shift_Ins	INS	ENST00000318445.6	37	c.1110_1111insT	CCDS10371.1																																																																																				0.584	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		47	358						47	358	---	---	---	---
APPBP2	10513	broad.mit.edu	37	17	58571849	58571849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:58571849delG	ENST00000083182.3	-	3	644	c.357delC	c.(355-357)gccfs	p.A119fs		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	119					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAACCTGAATGGCTTTTTCCT	0.403																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(355-357)gcfs		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							100.0	97.0	98.0					17																	58571849		2203	4300	6503	SO:0001589	frameshift_variant	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58571849delG	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.357delC	17.37:g.58571849delG	ENSP00000083182:p.Ala119fs						p.A119fs	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		3	644	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		119					A8K862|O95095|Q8WVC9	Frame_Shift_Del	DEL	ENST00000083182.3	37	c.357delC	CCDS32699.1																																																																																				0.403	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		32	78						32	78	---	---	---	---
IGLL1	3543	broad.mit.edu	37	22	23922291	23922293	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:23922291_23922293delCAG	ENST00000330377.2	-	1	202_204	c.85_87delCTG	c.(85-87)ctgdel	p.L29del	IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del|KB-208E9.1_ENST00000608615.1_lincRNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	29					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGGCCAGACCCAGCAGCAGCAGG	0.719																																						ENST00000330377.2																			0				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						c.(85-87)del		immunoglobulin lambda-like polypeptide 1																																				SO:0001651	inframe_deletion	3543				immune response	extracellular region|membrane		g.chr22:23922291_23922293delCAG	X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.85_87delCTG	22.37:g.23922300_23922302delCAG	ENSP00000329312:p.Leu29del					IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del	p.L29del	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN			1	202_204	-			29					Q0P681	In_Frame_Del	DEL	ENST00000330377.2	37	c.85_87delCTG	CCDS13809.1																																																																																				0.719	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070		3	4						3	4	---	---	---	---
