#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
HEPACAM2	253012	broad.mit.edu	37	7	92825189	92825189	+	Missense_Mutation	SNP	G	G	T	rs575324968		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:92825189G>T	ENST00000394468.2	-	8	1304	c.1227C>A	c.(1225-1227)ttC>ttA	p.F409L	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F397L|HEPACAM2_ENST00000440868.1_Nonsense_Mutation_p.S389*|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F432L|HEPACAM2_ENST00000492616.1_5'UTR	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	409					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATATATTCCGAAGTCATCCA	0.383																																						ENST00000440868.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1165-1167)tCg>tAg		HEPACAM family member 2							116.0	113.0	114.0					7																	92825189		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92825189G>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1227C>A	7.37:g.92825189G>T	ENSP00000377980:p.Phe409Leu					HEPACAM2_ENST00000394468.2_Missense_Mutation_p.F409L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F397L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F432L|HEPACAM2_ENST00000492616.1_5'UTR	p.S389*			A8MVW5	HECA2_HUMAN			6	1216	-			0					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Nonsense_Mutation	SNP	ENST00000394468.2	37	c.1166C>A	CCDS43616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.743790|4.743790	0.89663|0.89663	.|.	.|.	ENSG00000188175|ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000453812|ENST00000440868	T;T;T|.	0.58060|.	0.36;0.4;0.4|.	4.89|4.89	-4.02|-4.02	0.04034|0.04034	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.50257|.	0.1605|.	L|L	0.36672|0.36672	1.1|1.1	0.41209|0.41209	D|D	0.986423|0.986423	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.997;0.999|.	T|.	0.46775|.	-0.9167|.	10|.	0.15066|0.23302	T|T	0.55|0.38	-19.8784|-19.8784	13.7341|13.7341	0.62807|0.62807	0.8061:0.0:0.1939:0.0|0.8061:0.0:0.1939:0.0	.|.	432;409;397|.	E9PDV5;A8MVW5;A8MVW5-2|.	.;HECA2_HUMAN;.|.	L|X	409;397;432|389	ENSP00000377980:F409L;ENSP00000340532:F397L;ENSP00000390204:F432L|.	ENSP00000340532:F397L|ENSP00000389592:S389X	F|S	-|-	3|2	2|0	HEPACAM2|HEPACAM2	92663125|92663125	0.982000|0.982000	0.34865|0.34865	0.895000|0.895000	0.35142|0.35142	0.998000|0.998000	0.95712|0.95712	0.023000|0.023000	0.13533|0.13533	-0.746000|-0.746000	0.04766|0.04766	0.650000|0.650000	0.86243|0.86243	TTC|TCG		0.383	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		28	38	1	0	8.58068e-18	1	8.95924e-18	28	38				
CYP26B1	56603	broad.mit.edu	37	2	72360210	72360210	+	Missense_Mutation	SNP	C	C	T	rs281875231		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr2:72360210C>T	ENST00000001146.2	-	5	1291	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172H|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	363			R -> L (in RHFCA; dbSNP:rs281875231). {ECO:0000269|PubMed:22019272}.		bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGTGAACAGGCGCATGACCTC	0.677																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(1087-1089)cGc>cAc		cytochrome P450, family 26, subfamily B, polypeptide 1							66.0	57.0	60.0					2																	72360210		2202	4299	6501	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72360210C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1088G>A	2.37:g.72360210C>T	ENSP00000001146:p.Arg363His					CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172H	p.R363H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			5	1291	-			363					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.1088G>A	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047454	0.93740	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	D;D;D	0.97505	-4.41;-4.41;-4.41	5.64	5.64	0.86602	.	0.048025	0.85682	D	0.000000	D	0.98905	0.9629	M	0.93854	3.465	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99494	1.0951	10	0.87932	D	0	-12.3399	18.6392	0.91389	0.0:1.0:0.0:0.0	.	288;346;363	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	H	363;172;288	ENSP00000001146:R363H;ENSP00000401465:R172H;ENSP00000443304:R288H	ENSP00000001146:R363H	R	-	2	0	CYP26B1	72213718	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	6.070000	0.71220	2.833000	0.97629	0.650000	0.86243	CGC		0.677	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		15	20	0	0	0	1	0	15	20				
SYNE1	23345	broad.mit.edu	37	6	152469200	152469200	+	Missense_Mutation	SNP	C	C	T	rs148008634	byFrequency	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr6:152469200C>T	ENST00000367255.5	-	137	25557	c.24956G>A	c.(24955-24957)cGg>cAg	p.R8319Q	SYNE1_ENST00000539504.1_Missense_Mutation_p.R474Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7931Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R474Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2843Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8319Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8319					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACAGCTCCCCGGAGGTAGAA	0.493										HNSCC(10;0.0054)			C|||	3	0.000599042	0.0023	0.0	5008	,	,		19274	0.0		0.0	False		,,,				2504	0.0					ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24955-24957)cGg>cAg		spectrin repeat containing, nuclear envelope 1		C	GLN/ARG,GLN/ARG	10,4396	16.8+/-37.8	0,10,2193	53.0	56.0	55.0		24743,24956	1.5	0.9	6	dbSNP_134	55	0,8600		0,0,4300	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	43,43	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign,benign	8248/8750,8319/8798	152469200	10,12996	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469200C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24956G>A	6.37:g.152469200C>T	ENSP00000356224:p.Arg8319Gln	HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.R474Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8319Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2843Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R474Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7931Q	p.R8319Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25557	-		Ovarian(120;0.0955)	8319					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24956G>A	CCDS5236.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	5.308	0.242277	0.10077	0.00227	0.0	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.54866	0.64;4.7;1.49;0.56;0.55;0.56;0.75;2.64;1.5;4.5	5.34	1.47	0.22746	.	0.262352	0.25919	N	0.027458	T	0.13286	0.0322	N	0.16903	0.455	0.24955	N	0.991765	B;B;B;B;B	0.17038	0.005;0.005;0.02;0.012;0.001	B;B;B;B;B	0.12156	0.001;0.001;0.007;0.003;0.002	T	0.16571	-1.0398	10	0.40728	T	0.16	.	5.2161	0.15344	0.1363:0.5903:0.0:0.2734	.	8319;8319;8248;8248;521	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Q	8319;474;965;8248;8319;8248;7931;2843;481;476;1241;474	ENSP00000356224:R8319Q;ENSP00000441052:R474Q;ENSP00000356226:R965Q;ENSP00000396024:R8248Q;ENSP00000265368:R8319Q;ENSP00000390975:R8248Q;ENSP00000341887:R7931Q;ENSP00000349276:R2843Q;ENSP00000356220:R1241Q;ENSP00000346701:R474Q	ENSP00000265368:R8319Q	R	-	2	0	SYNE1	152510893	0.146000	0.22672	0.942000	0.38095	0.001000	0.01503	1.293000	0.33353	0.621000	0.30232	-0.182000	0.12963	CGG		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	24	0	0	0	1	0	14	24				
SON	6651	broad.mit.edu	37	21	34921914	34921914	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr21:34921914A>G	ENST00000356577.4	+	3	852	c.377A>G	c.(376-378)gAa>gGa	p.E126G	SON_ENST00000300278.4_Missense_Mutation_p.E126G|SON_ENST00000290239.6_Missense_Mutation_p.E126G|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.E126G	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	126				E -> K (in Ref. 7; BAB14985). {ECO:0000305}.	cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						aaagaaaaggaaaaaaaaTAT	0.303											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(376-378)gAa>gGa		SON DNA binding protein							24.0	26.0	25.0					21																	34921914		2192	4296	6488	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34921914A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.377A>G	21.37:g.34921914A>G	ENSP00000348984:p.Glu126Gly		OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_ENST00000290239.6_Missense_Mutation_p.E126G|SON_ENST00000381679.4_Missense_Mutation_p.E126G|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E126G	p.E126G	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	852	+			126	E -> K (in Ref. 7; BAB14985).				D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.377A>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186985	0.57909	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.77	4.62	0.57501	.	0.106418	0.41938	D	0.000791	T	0.26774	0.0655	L	0.27053	0.805	0.28693	N	0.904498	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.996	T	0.04767	-1.0928	10	0.87932	D	0	.	9.7898	0.40699	0.9211:0.0:0.0789:0.0	.	126;126;126	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	G	126	ENSP00000348984:E126G;ENSP00000290239:E126G;ENSP00000300278:E126G;ENSP00000371095:E126G	ENSP00000290239:E126G	E	+	2	0	SON	33843784	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.725000	0.61979	1.110000	0.41699	-0.290000	0.09829	GAA		0.303	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		13	17	0	0	0	1	0	13	17				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	36	0	0	0	1	0	4	36				
OR1C1	26188	broad.mit.edu	37	1	247921335	247921335	+	Missense_Mutation	SNP	G	G	A	rs563143111		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:247921335G>A	ENST00000408896.2	-	1	647	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTGGCAAATCGCCACATATCT	0.502													g|||	1	0.000199681	0.0008	0.0	5008	,	,		21165	0.0		0.0	False		,,,				2504	0.0					ENST00000408896.2																			1	Substitution - Missense(1)	p.A125V(1)	large_intestine(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(373-375)gCg>gTg		olfactory receptor, family 1, subfamily C, member 1							71.0	67.0	68.0					1																	247921335		2014	4172	6186	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921335G>A	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.374C>T	1.37:g.247921335G>A	ENSP00000386138:p.Ala125Val						p.A125V	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	647	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	125					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.374C>T	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483380	0.63962	.	.	ENSG00000221888	ENST00000408896	T	0.01228	5.14	3.19	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14960	0.0361	H	0.97707	4.06	0.36358	D	0.860484	D	0.89917	1.0	D	0.91635	0.999	T	0.47032	-0.9148	9	0.87932	D	0	.	14.4931	0.67665	0.0:0.0:1.0:0.0	.	125	Q15619	OR1C1_HUMAN	V	125	ENSP00000386138:A125V	ENSP00000386138:A125V	A	-	2	0	OR1C1	245987958	1.000000	0.71417	0.970000	0.41538	0.273000	0.26683	6.771000	0.74996	1.789000	0.52484	0.580000	0.79431	GCG		0.502	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			25	19	0	0	0	1	0	25	19				
SLC35G6	643664	broad.mit.edu	37	17	7385399	7385399	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:7385399G>A	ENST00000412468.2	+	2	211	c.96G>A	c.(94-96)caG>caA	p.Q32Q	POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	32						integral component of membrane (GO:0016021)											AGTGCTGCCAGCCCTCTGATG	0.662																																						ENST00000412468.2																			0											c.(94-96)caG>caA		solute carrier family 35, member G6							47.0	52.0	50.0					17																	7385399		2203	4299	6502	SO:0001819	synonymous_variant	643664					integral to membrane		g.chr17:7385399G>A		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.96G>A	17.37:g.7385399G>A						ZBTB4_ENST00000311403.4_Intron	p.Q32Q	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN			2	211	+			32						Silent	SNP	ENST00000412468.2	37	c.96G>A	CCDS45603.1																																																																																				0.662	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		26	40	0	0	0	1	0	26	40				
SCPEP1	59342	broad.mit.edu	37	17	55072877	55072877	+	Missense_Mutation	SNP	G	G	A	rs138036655		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:55072877G>A	ENST00000262288.3	+	8	722	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	223					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTCTCTTCTCGAAGACAAAGG	0.502																																						ENST00000262288.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14						c.(667-669)Gaa>Aaa		serine carboxypeptidase 1		G	LYS/GLU	0,4406		0,0,2203	93.0	91.0	92.0		667	5.8	0.1	17	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	missense	SCPEP1	NM_021626.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	223/453	55072877	2,13004	2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55072877G>A	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.667G>A	17.37:g.55072877G>A	ENSP00000262288:p.Glu223Lys						p.E223K	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN			8	722	+	Breast(9;2.86e-08)		223					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.667G>A	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382776	0.61845	0.0	2.33E-4	ENSG00000121064	ENST00000262288	T	0.42513	0.97	5.83	5.83	0.93111	.	0.085587	0.85682	D	0.000000	T	0.33235	0.0856	N	0.19112	0.55	0.52099	D	0.999947	B	0.23854	0.092	B	0.11329	0.006	T	0.05500	-1.0881	10	0.45353	T	0.12	-19.5787	20.1197	0.97955	0.0:0.0:1.0:0.0	.	223	Q9HB40	RISC_HUMAN	K	223	ENSP00000262288:E223K	ENSP00000262288:E223K	E	+	1	0	SCPEP1	52427876	1.000000	0.71417	0.125000	0.21846	0.366000	0.29705	8.107000	0.89557	2.755000	0.94549	0.557000	0.71058	GAA		0.502	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		5	55	0	0	0	1	0	5	55				
SLC6A6	6533	broad.mit.edu	37	3	14508027	14508027	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:14508027G>A	ENST00000454876.2	+	7	1065	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	246					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGCAGGTCGTCTACTTCAC	0.602																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(736-738)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 6							120.0	95.0	103.0					3																	14508027		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14508027G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.736G>A	3.37:g.14508027G>A	ENSP00000398063:p.Val246Ile					SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I	p.V246I			P31641	SC6A6_HUMAN			7	1065	+			246					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.736G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854885	0.71719	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.77489	-1.1;-1.1	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.74881	2.28	0.80722	D	1	P	0.50710	0.938	P	0.44696	0.458	D	0.84993	0.0895	10	0.72032	D	0.01	.	17.6676	0.88207	0.0:0.0:1.0:0.0	.	246	P31641	SC6A6_HUMAN	I	246	ENSP00000398063:V246I;ENSP00000354107:V246I	ENSP00000354107:V246I	V	+	1	0	SLC6A6	14483031	1.000000	0.71417	0.933000	0.37362	0.232000	0.25224	9.862000	0.99564	2.241000	0.73720	0.491000	0.48974	GTC		0.602	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		27	41	0	0	0	1	0	27	41				
PA2G4	5036	broad.mit.edu	37	12	56504240	56504240	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:56504240C>T	ENST00000303305.6	+	8	1106	c.687C>T	c.(685-687)ctC>ctT	p.L229L	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.L229L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	229					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGATGTTCTCGTCAGCTCAG	0.403																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(685-687)ctC>ctT		proliferation-associated 2G4, 38kDa							86.0	80.0	82.0					12																	56504240		2203	4300	6503	SO:0001819	synonymous_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56504240C>T	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.687C>T	12.37:g.56504240C>T						RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.L229L	p.L229L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		8	1106	+			229					O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	c.687C>T	CCDS8902.1																																																																																				0.403	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		28	34	0	0	0	1	0	28	34				
LRRK1	79705	broad.mit.edu	37	15	101555560	101555560	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:101555560T>G	ENST00000388948.3	+	12	1921	c.1562T>G	c.(1561-1563)aTt>aGt	p.I521S	LRRK1_ENST00000284395.5_Missense_Mutation_p.I518S	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGAAGCGTATTGCCTTTTTC	0.517											OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(1552-1554)aTt>aGt		leucine-rich repeat kinase 1							62.0	64.0	64.0					15																	101555560		2061	4208	6269	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101555560T>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1562T>G	15.37:g.101555560T>G	ENSP00000373600:p.Ile521Ser		OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1359	LRRK1_ENST00000388948.3_Missense_Mutation_p.I521S	p.I518S			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		13	1953	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		521						Missense_Mutation	SNP	ENST00000388948.3	37	c.1553T>G	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736930	0.49045	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73152	-0.7;-0.72	5.43	5.43	0.79202	.	0.225800	0.37261	N	0.002177	T	0.53158	0.1779	N	0.19112	0.55	0.42940	D	0.994343	P	0.38335	0.627	B	0.35114	0.196	T	0.53975	-0.8362	10	0.12430	T	0.62	.	14.6505	0.68794	0.0:0.0:0.0:1.0	.	521	Q38SD2	LRRK1_HUMAN	S	521;518	ENSP00000373600:I521S;ENSP00000284395:I518S	ENSP00000284395:I518S	I	+	2	0	LRRK1	99373083	1.000000	0.71417	0.982000	0.44146	0.852000	0.48524	3.438000	0.52871	2.037000	0.60232	0.448000	0.29417	ATT		0.517	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		8	10	0	0	0	1	0	8	10				
PPP4R1	9989	broad.mit.edu	37	18	9549244	9549244	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr18:9549244G>A	ENST00000400556.3	-	19	2713	c.2640C>T	c.(2638-2640)aaC>aaT	p.N880N	PPP4R1_ENST00000400555.3_Silent_p.N863N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	880					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GCACTCGCACGTTAGGAACCC	0.478																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(2638-2640)aaC>aaT		protein phosphatase 4, regulatory subunit 1							177.0	172.0	174.0					18																	9549244		1991	4170	6161	SO:0001819	synonymous_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9549244G>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2640C>T	18.37:g.9549244G>A						PPP4R1_ENST00000400555.3_Silent_p.N863N	p.N880N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			19	2713	-			880					Q99774|Q9UNQ7	Silent	SNP	ENST00000400556.3	37	c.2640C>T	CCDS42412.1																																																																																				0.478	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		61	65	0	0	0	1	0	61	65				
PPP1R13B	23368	broad.mit.edu	37	14	104220415	104220415	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:104220415C>T	ENST00000202556.9	-	6	905	c.623G>A	c.(622-624)gGc>gAc	p.G208D		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	208	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACACAGATTGCCGTTCATGAT	0.463																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(622-624)gGc>gAc		protein phosphatase 1, regulatory subunit 13B							325.0	314.0	318.0					14																	104220415		2056	4201	6257	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104220415C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.623G>A	14.37:g.104220415C>T	ENSP00000202556:p.Gly208Asp						p.G208D	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			6	905	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	208			Gln-rich.		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.623G>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402257	0.96030	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	D	0.85258	-1.96	5.65	5.65	0.86999	.	0.092126	0.85682	D	0.000000	D	0.90848	0.7125	L	0.58810	1.83	0.80722	D	1	D	0.69078	0.997	D	0.63957	0.92	D	0.90869	0.4744	10	0.72032	D	0.01	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	208	Q96KQ4	ASPP1_HUMAN	D	208;75	ENSP00000202556:G208D	ENSP00000202556:G208D	G	-	2	0	PPP1R13B	103290168	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.382000	0.79729	2.827000	0.97445	0.650000	0.86243	GGC		0.463	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		4	162	0	0	0	1	0	4	162				
FOXF1	2294	broad.mit.edu	37	16	86546529	86546529	+	Splice_Site	SNP	A	A	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr16:86546529A>G	ENST00000262426.4	+	2	1022		c.e2-1			NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1						blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CTCGCCTTGCAGGCATCCCGC	0.627																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.e2-1		forkhead box F1							72.0	67.0	69.0					16																	86546529		2198	4300	6498	SO:0001630	splice_region_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86546529A>G	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.980-1A>G	16.37:g.86546529A>G								NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			2	1022	+								B2RAF4|Q5FWE5	Splice_Site	SNP	ENST00000262426.4	37		CCDS10957.2	.	.	.	.	.	.	.	.	.	.	A	14.50	2.553542	0.45487	.	.	ENSG00000103241	ENST00000262426	.	.	.	4.77	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2936	0.37802	0.9133:0.0:0.0867:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOXF1	85104030	0.563000	0.26594	0.994000	0.49952	0.676000	0.39594	1.339000	0.33885	1.892000	0.54788	0.533000	0.62120	.		0.627	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451	Intron	3	26	0	0	0	1	0	3	26				
CHMP4B	128866	broad.mit.edu	37	20	32439895	32439895	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr20:32439895G>A	ENST00000217402.2	+	4	661	c.496G>A	c.(496-498)Gcg>Acg	p.A166T		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	166					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGAGCTCATGGCGGAATTAGA	0.493																																						ENST00000217402.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(496-498)Gcg>Acg		charged multivesicular body protein 4B							122.0	125.0	124.0					20																	32439895		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32439895G>A	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.496G>A	20.37:g.32439895G>A	ENSP00000217402:p.Ala166Thr						p.A166T	NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN			4	661	+			166					E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.496G>A	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415941	0.96092	.	.	ENSG00000101421	ENST00000217402	T	0.74421	-0.84	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	H	0.94582	3.555	0.80722	D	1	D	0.56287	0.975	P	0.58620	0.842	D	0.87086	0.2169	10	0.24483	T	0.36	-14.5115	20.731	0.99711	0.0:0.0:1.0:0.0	.	166	Q9H444	CHM4B_HUMAN	T	166	ENSP00000217402:A166T	ENSP00000217402:A166T	A	+	1	0	CHMP4B	31903556	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.793000	0.85851	2.907000	0.99374	0.609000	0.83330	GCG		0.493	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			11	114	0	0	0	1	0	11	114				
GLIS3	169792	broad.mit.edu	37	9	4286155	4286155	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:4286155G>A	ENST00000381971.3	-	2	864	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	325	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCATTGGTGAGCATTTGTCTC	0.562																																						ENST00000381971.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(271-273)Ctc>Ttc		GLIS family zinc finger 3							81.0	85.0	84.0					9																	4286155		2010	4173	6183	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4286155G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.271C>T	9.37:g.4286155G>A	ENSP00000371398:p.Leu91Phe						p.L91F	NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	2	864	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	325			Ser-rich.		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000381971.3	37	c.271C>T	CCDS43784.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477320	0.44044	.	.	ENSG00000107249	ENST00000381971;ENST00000477901;ENST00000481827	T	0.16324	2.35	5.75	3.87	0.44632	.	.	.	.	.	T	0.10465	0.0256	N	0.19112	0.55	0.29834	N	0.829766	B;B	0.20671	0.047;0.007	B;B	0.20955	0.032;0.009	T	0.10730	-1.0617	9	0.72032	D	0.01	.	3.9987	0.09570	0.0937:0.2626:0.5206:0.1232	.	91;91	F8WEV9;Q8NEA6-2	.;.	F	91	ENSP00000371398:L91F	ENSP00000371398:L91F	L	-	1	0	GLIS3	4276155	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.226000	0.42963	1.431000	0.47355	0.655000	0.94253	CTC		0.562	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354776.1	NM_152629		33	50	0	0	0	1	0	33	50				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	33	0	0	0	1	0	4	33				
GABRE	2564	broad.mit.edu	37	X	151123361	151123361	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:151123361C>T	ENST00000370328.3	-	9	1386	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	445					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCACAGCAGGCCAGCTTGGAG	0.617																																						ENST00000370328.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(1333-1335)Gcc>Acc		gamma-aminobutyric acid (GABA) A receptor, epsilon							39.0	38.0	38.0					X																	151123361		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123361C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1333G>A	X.37:g.151123361C>T	ENSP00000359353:p.Ala445Thr					GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	p.A445T	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN			9	1386	-	Acute lymphoblastic leukemia(192;6.56e-05)		445					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1333G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	3.197	-0.164504	0.06502	.	.	ENSG00000102287	ENST00000370328	D	0.86432	-2.12	4.22	-2.42	0.06542	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.59985	0.2234	N	0.01668	-0.77	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.51537	-0.8693	9	0.21014	T	0.42	.	0.9406	0.01355	0.1743:0.2474:0.1514:0.4269	.	445	P78334	GBRE_HUMAN	T	445	ENSP00000359353:A445T	ENSP00000359353:A445T	A	-	1	0	GABRE	150874017	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.275000	0.08525	-0.596000	0.05821	-1.326000	0.01283	GCC		0.617	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		21	22	0	0	0	1	0	21	22				
PITX1	5307	broad.mit.edu	37	5	134364859	134364859	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:134364859G>A	ENST00000265340.7	-	3	971	c.555C>T	c.(553-555)gcC>gcT	p.A185A	PITX1_ENST00000506438.1_Silent_p.A185A	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	185	Interacts with PIT-1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGCTCTTGGCGGCCCAGTTGT	0.632																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(553-555)gcC>gcT		paired-like homeodomain 1							50.0	52.0	52.0					5																	134364859		2203	4300	6503	SO:0001819	synonymous_variant	5307					nucleolus	sequence-specific DNA binding	g.chr5:134364859G>A	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.555C>T	5.37:g.134364859G>A						PITX1_ENST00000506438.1_Silent_p.A185A	p.A185A	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	3	971	-			185			Interacts with PIT-1 (By similarity).		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Silent	SNP	ENST00000265340.7	37	c.555C>T	CCDS4182.1																																																																																				0.632	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			16	41	0	0	0	1	0	16	41				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	13	0	0	0	1	0	3	13				
ZMYM6	9204	broad.mit.edu	37	1	35496240	35496240	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:35496240T>C	ENST00000357182.4	-	2	228	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ZMYM6_ENST00000317538.5_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000487874.1_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000373333.1_Start_Codon_SNP_p.M1V	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTCTTTCATTCTAATTTTT	0.388																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1-3)Atg>Gtg		zinc finger, MYM-type 6							119.0	121.0	120.0					1																	35496240		2203	4300	6503	SO:0001582	initiator_codon_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35496240T>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1A>G	1.37:g.35496240T>C	ENSP00000349708:p.Met1Val					ZMYM6_ENST00000373340.2_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000317538.5_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373333.1_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000487874.1_Start_Codon_SNP_p.M1V	p.M1V	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			2	228	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	1					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Translation_Start_Site	SNP	ENST00000357182.4	37	c.1A>G	CCDS387.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031652	0.75504	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531;ENST00000317538;ENST00000373333	T;T;T;T;T	0.45668	2.0;3.16;1.56;0.89;0.89	4.56	4.56	0.56223	.	0.113777	0.64402	D	0.000018	T	0.38108	0.1028	.	.	.	0.80722	D	1	P;B;B	0.41784	0.762;0.141;0.102	B;B;B	0.38500	0.275;0.051;0.049	T	0.42413	-0.9453	9	0.87932	D	0	-17.7262	12.5869	0.56423	0.0:0.0:0.0:1.0	.	1;1;1	O95789-4;O95789;O95789-1	.;ZMYM6_HUMAN;.	V	1	ENSP00000362437:M1V;ENSP00000349708:M1V;ENSP00000391337:M1V;ENSP00000326695:M1V;ENSP00000362430:M1V	ENSP00000326695:M1V	M	-	1	0	ZMYM6	35268827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.474000	0.60203	2.042000	0.60477	0.528000	0.53228	ATG		0.388	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	Missense_Mutation	39	6	0	0	0	1	0	39	6				
FSTL3	10272	broad.mit.edu	37	19	681421	681421	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr19:681421G>A	ENST00000166139.4	+	4	626	c.594G>A	c.(592-594)gcG>gcA	p.A198A	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	198	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGAGCGGCGCCCTGCCCTG	0.692			T	CCND1	B-CLL																																	ENST00000166139.4				Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0											c.(592-594)gcG>gcA		follistatin-like 3 (secreted glycoprotein)							34.0	27.0	29.0					19																	681421		2201	4293	6494	SO:0001819	synonymous_variant	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:681421G>A	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.594G>A	19.37:g.681421G>A						FSTL3_ENST00000592947.1_3'UTR	p.A198A	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	626	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	198			Kazal-like 2.		A8K7E3	Silent	SNP	ENST00000166139.4	37	c.594G>A	CCDS12040.1																																																																																				0.692	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	NM_005860		5	6	0	0	0	1	0	5	6				
CD93	22918	broad.mit.edu	37	20	23065004	23065004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr20:23065004C>T	ENST00000246006.4	-	1	1973	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	609					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTCGCTCTCCGCTTGCGATA	0.577																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1825-1827)cGg>cAg		CD93 molecule							147.0	145.0	146.0					20																	23065004		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065004C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1826G>A	20.37:g.23065004C>T	ENSP00000246006:p.Arg609Gln						p.R609Q	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1973	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		609					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1826G>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459400	0.63401	.	.	ENSG00000125810	ENST00000246006	T	0.81247	-1.47	6.03	2.65	0.31530	.	0.204270	0.32901	N	0.005511	T	0.72922	0.3521	M	0.62723	1.935	0.26975	N	0.965487	P	0.36438	0.553	B	0.27887	0.084	T	0.68588	-0.5369	10	0.87932	D	0	-37.6033	10.2146	0.43160	0.0:0.7094:0.0:0.2906	.	609	Q9NPY3	C1QR1_HUMAN	Q	609	ENSP00000246006:R609Q	ENSP00000246006:R609Q	R	-	2	0	CD93	23013004	1.000000	0.71417	0.910000	0.35882	0.033000	0.12548	1.664000	0.37439	0.906000	0.36621	0.650000	0.86243	CGG		0.577	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		68	86	0	0	0	1	0	68	86				
SNHG14	104472715	broad.mit.edu	37	15	25304728	25304728	+	RNA	SNP	C	C	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:25304728C>G	ENST00000549804.2	+	0	121				SNORD116-5_ENST00000384462.1_RNA|SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000384733.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CTTGGAAAAGCTGAACAAAAT	0.512																																						ENST00000549804.2																			0																				216.0	199.0	204.0					15																	25304728		876	1991	2867			0							g.chr15:25304728C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25304728C>G						SNHG14_ENST00000384733.1_RNA								0	121	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.512	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			43	74	0	0	0	1	0	43	74				
OSR2	116039	broad.mit.edu	37	8	99962883	99962883	+	Splice_Site	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr8:99962883G>A	ENST00000297565.4	+	3	1152		c.e3-1		OSR2_ENST00000435298.2_Splice_Site|OSR2_ENST00000457907.2_Splice_Site|OSR2_ENST00000523368.1_Splice_Site|OSR2_ENST00000522510.1_Splice_Site	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TTGATTTTCAGATACATCCAT	0.358																																						ENST00000297565.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e3-1		odd-skipped related transciption factor 2							60.0	57.0	58.0					8																	99962883		1843	4085	5928	SO:0001630	splice_region_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99962883G>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.657-1G>A	8.37:g.99962883G>A						OSR2_ENST00000435298.2_Splice_Site|OSR2_ENST00000457907.2_Splice_Site|OSR2_ENST00000522510.1_Splice_Site|OSR2_ENST00000523368.1_Splice_Site		NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		3	1152	+	Breast(36;4.14e-07)							A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Splice_Site	SNP	ENST00000297565.4	37		CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689054	0.68271	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1074	0.93301	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OSR2	100032059	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.657000	0.98554	2.738000	0.93877	0.655000	0.94253	.		0.358	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001	Intron	6	8	0	0	0	1	0	6	8				
HCCS	3052	broad.mit.edu	37	X	11133053	11133053	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:11133053C>A	ENST00000321143.4	+	3	401	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	HCCS_ENST00000380763.3_Missense_Mutation_p.P67T|HCCS_ENST00000380762.4_Missense_Mutation_p.P67T|Y_RNA_ENST00000384422.1_RNA	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	67					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						CGTGGAGTGTCCCATTAGGGG	0.498																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(199-201)Ccc>Acc		holocytochrome c synthase							121.0	100.0	107.0					X																	11133053		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11133053C>A		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"""cytochrome c heme-lyase"""	300056	"""holocytochrome c synthase (cytochrome c heme-lyase)"", ""microphthalamia with linear skin defects"""	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.199C>A	X.37:g.11133053C>A	ENSP00000326579:p.Pro67Thr					HCCS_ENST00000380762.4_Missense_Mutation_p.P67T|HCCS_ENST00000380763.3_Missense_Mutation_p.P67T	p.P67T	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN			3	401	+			67					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.199C>A	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352783	0.61293	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.85955	-2.05;-2.05;-2.05	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.87827	2.91	0.80722	D	1	D	0.56035	0.974	P	0.56612	0.802	D	0.93140	0.6540	10	0.87932	D	0	-8.329	15.1865	0.73006	0.0:1.0:0.0:0.0	.	67	P53701	CCHL_HUMAN	T	67	ENSP00000326579:P67T;ENSP00000370140:P67T;ENSP00000370139:P67T	ENSP00000326579:P67T	P	+	1	0	HCCS	11042974	1.000000	0.71417	0.517000	0.27799	0.234000	0.25298	6.637000	0.74304	2.264000	0.75181	0.600000	0.82982	CCC		0.498	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			43	56	1	0	1.41504e-22	1	1.49951e-22	43	56				
PTGES2	80142	broad.mit.edu	37	9	130885212	130885212	+	Splice_Site	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:130885212C>T	ENST00000338961.6	-	5	1632		c.e5+1		PTGES2_ENST00000277462.5_Splice_Site|PTGES2_ENST00000483625.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2						cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						CACACACTTGCCTGCTCTTGA	0.642																																						ENST00000338961.6																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.e5+1		prostaglandin E synthase 2							109.0	86.0	94.0					9																	130885212		2203	4300	6503	SO:0001630	splice_region_variant	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130885212C>T	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.887+1G>A	9.37:g.130885212C>T						PTGES2_ENST00000277462.5_Splice_Site		NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN			5	1632	-								Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Splice_Site	SNP	ENST00000338961.6	37		CCDS6891.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328847	0.60743	.	.	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4507	0.61169	0.1671:0.8329:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTGES2	129925033	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.967000	0.76079	2.462000	0.83206	0.561000	0.74099	.		0.642	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1		Intron	15	22	0	0	0	1	0	15	22				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			21	38	0	0	0	1	0	21	38				
KIAA0020	9933	broad.mit.edu	37	9	2829886	2829886	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:2829886C>T	ENST00000397885.2	-	8	946	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	247	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TTCCGCATGCCGCAGCATCTT	0.433																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(739-741)cGg>cAg		KIAA0020							219.0	191.0	200.0					9																	2829886		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829886C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.740G>A	9.37:g.2829886C>T	ENSP00000380982:p.Arg247Gln					KIAA0020_ENST00000469168.1_5'UTR	p.R247Q	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	8	946	-			247			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.740G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	36	5.640154	0.96693	.	.	ENSG00000080608	ENST00000397885	T	0.69040	-0.37	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.79926	2.475	0.80722	D	1	P;P	0.42337	0.776;0.776	B;B	0.36092	0.217;0.154	T	0.72100	-0.4392	10	0.40728	T	0.16	-27.9317	20.8794	0.99867	0.0:1.0:0.0:0.0	.	107;247	B2RDG4;Q15397	.;K0020_HUMAN	Q	247	ENSP00000380982:R247Q	ENSP00000380982:R247Q	R	-	2	0	KIAA0020	2819886	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.476000	0.81055	2.941000	0.99782	0.655000	0.94253	CGG		0.433	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		56	124	0	0	0	1	0	56	124				
SIPA1L2	57568	broad.mit.edu	37	1	232626742	232626742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:232626742G>A	ENST00000366630.1	-	4	2042	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R562*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	562					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGTAGTCCTCGTGCGGTACCA	0.458																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1684-1686)Cga>Tga		signal-induced proliferation-associated 1 like 2							96.0	96.0	96.0					1																	232626742		1962	4174	6136	SO:0001587	stop_gained	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232626742G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1684C>T	1.37:g.232626742G>A	ENSP00000355589:p.Arg562*					SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R562*|SIPA1L2_ENST00000486472.1_5'UTR	p.R562*			Q9P2F8	SI1L2_HUMAN			4	2042	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	562					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	c.1684C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	42	9.368222	0.99150	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.28	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.085	13.4044	0.60903	0.0:0.0:0.6589:0.3411	.	.	.	.	X	562	.	ENSP00000262861:R562X	R	-	1	2	SIPA1L2	230693365	1.000000	0.71417	0.277000	0.24703	0.947000	0.59692	3.035000	0.49759	1.447000	0.47661	0.650000	0.86243	CGA		0.458	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		10	39	0	0	0	1	0	10	39				
LZTR1	8216	broad.mit.edu	37	22	21348256	21348256	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr22:21348256G>A	ENST00000215739.8	+	13	1756	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	LZTR1_ENST00000389355.3_Missense_Mutation_p.R447Q|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	466	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.		R -> Q (in SWNTS2). {ECO:0000269|PubMed:24362817}.		anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACAGCGCGGAGCCGCTGG	0.647																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1396-1398)cGg>cAg		leucine-zipper-like transcription regulator 1							33.0	35.0	35.0					22																	21348256		2201	4300	6501	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21348256G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1397G>A	22.37:g.21348256G>A	ENSP00000215739:p.Arg466Gln					LZTR1_ENST00000389355.3_Missense_Mutation_p.R447Q|LZTR1_ENST00000479606.1_3'UTR	p.R466Q	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		13	1756	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	466			BTB 1.		Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1397G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	36	5.796340	0.96952	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.69926	-0.44;-0.44	5.42	5.42	0.78866	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.998;1.0;0.998;0.99	D	0.85716	0.1322	10	0.87932	D	0	-33.6838	16.7142	0.85393	0.0:0.0:1.0:0.0	.	447;425;466;425	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	Q	425;466;447	ENSP00000215739:R466Q;ENSP00000374006:R447Q	ENSP00000215739:R466Q	R	+	2	0	LZTR1	19678256	1.000000	0.71417	0.616000	0.29078	0.883000	0.51084	9.516000	0.98017	2.534000	0.85438	0.557000	0.71058	CGG		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		12	15	0	0	0	1	0	12	15				
JADE2	23338	broad.mit.edu	37	5	133914911	133914911	+	Silent	SNP	C	C	T	rs377702719		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:133914911C>T	ENST00000282605.4	+	12	2495	c.2409C>T	c.(2407-2409)agC>agT	p.S803S	PHF15_ENST00000395003.1_Silent_p.S759S|PHF15_ENST00000361895.2_Silent_p.S760S|PHF15_ENST00000402835.1_3'UTR																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGAGATGAGCGACTCAGATG	0.617																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(2275-2277)agC>agT									73.0	70.0	71.0					5																	133914911		2203	4300	6503	SO:0001819	synonymous_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914911C>T																												ENST00000282605.4:c.2409C>T	5.37:g.133914911C>T						PHF15_ENST00000361895.2_Silent_p.S760S|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Silent_p.S803S	p.S759S	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2456	+			759						Silent	SNP	ENST00000282605.4	37	c.2277C>T																																																																																					0.617	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			24	27	0	0	0	1	0	24	27				
KIAA1257	57501	broad.mit.edu	37	3	128706646	128706646	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:128706646G>T	ENST00000265068.5	-	4	647	c.480C>A	c.(478-480)gaC>gaA	p.D160E	KIAA1257_ENST00000515659.1_Missense_Mutation_p.D48E|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D160E|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	160										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CCCAGGCTTTGTCACCTTCGT	0.453																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(478-480)gaC>gaA		KIAA1257							42.0	40.0	41.0					3																	128706646		1928	4132	6060	SO:0001583	missense	57501							g.chr3:128706646G>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.480C>A	3.37:g.128706646G>T	ENSP00000265068:p.Asp160Glu					KIAA1257_ENST00000511438.1_Missense_Mutation_p.D160E|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D48E	p.D160E	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			4	647	-			160					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.480C>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399911	0.62177	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.32	2.38	0.29361	.	0.466110	0.18458	N	0.140617	T	0.20536	0.0494	N	0.17082	0.46	0.09310	N	0.999994	P;P	0.46142	0.873;0.873	P;P	0.47299	0.543;0.543	T	0.04840	-1.0923	9	0.62326	D	0.03	-16.4444	4.1316	0.10152	0.1917:0.0:0.6255:0.1828	.	160;160	Q9ULG3;D6RH05	K1257_HUMAN;.	E	160;160;48	.	ENSP00000265068:D160E	D	-	3	2	KIAA1257	130189336	1.000000	0.71417	0.493000	0.27502	0.797000	0.45037	0.605000	0.24179	1.380000	0.46344	0.585000	0.79938	GAC		0.453	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		9	10	1	0	3.09899e-07	1	3.14326e-07	9	10				
ATP2B3	492	broad.mit.edu	37	X	152845601	152845601	+	Missense_Mutation	SNP	C	C	T	rs368530977		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:152845601C>T	ENST00000349466.2	+	21	3834	c.3508C>T	c.(3508-3510)Cgc>Tgc	p.R1170C	ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R1170C			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1170					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R1170C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACGAGGAGCGCCTCCGGGC	0.592																																						ENST00000263519.4																			1	Substitution - Missense(1)	p.R1170C(1)	large_intestine(1)	NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3508-3510)Cgc>Tgc		ATPase, Ca++ transporting, plasma membrane 3			CYS/ARG,	0,3835		0,0,1632,571	105.0	100.0	102.0		3508,	5.3	1.0	X		102	1,6727		0,1,2427,1872	no	missense,utr-3	ATP2B3	NM_001001344.2,NM_021949.3	180,	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging,	1170/1221,	152845601	1,10562	2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845601C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3508C>T	X.37:g.152845601C>T	ENSP00000343886:p.Arg1170Cys					ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R1170C|ATP2B3_ENST00000370181.2_3'UTR	p.R1170C	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN			20	3634	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1170					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3508C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.320695	0.41096	0.0	1.49E-4	ENSG00000067842	ENST00000349466;ENST00000263519	D;D	0.94687	-3.49;-3.49	5.34	5.34	0.76211	.	0.625613	0.14809	N	0.297153	D	0.91415	0.7291	N	0.14661	0.345	0.80722	D	1	P;P	0.51240	0.943;0.905	P;B	0.47162	0.54;0.209	D	0.92293	0.5843	10	0.66056	D	0.02	-16.568	16.741	0.85459	0.0:1.0:0.0:0.0	.	1156;1170	Q16720-4;Q16720	.;AT2B3_HUMAN	C	1170	ENSP00000343886:R1170C;ENSP00000263519:R1170C	ENSP00000263519:R1170C	R	+	1	0	ATP2B3	152498795	0.115000	0.22152	0.998000	0.56505	0.334000	0.28698	1.623000	0.37008	2.212000	0.71576	0.525000	0.51046	CGC		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		67	68	0	0	0	1	0	67	68				
NPVF	64111	broad.mit.edu	37	7	25266332	25266332	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:25266332G>C	ENST00000222674.2	-	2	498	c.452C>G	c.(451-453)tCc>tGc	p.S151C		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	151					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGAATGCATGGATCCTTGACA	0.468																																						ENST00000222674.2																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(451-453)tCc>tGc		neuropeptide VF precursor							255.0	236.0	243.0					7																	25266332		2203	4300	6503	SO:0001583	missense	64111				neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	g.chr7:25266332G>C	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.452C>G	7.37:g.25266332G>C	ENSP00000222674:p.Ser151Cys						p.S151C	NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN			2	498	-			151					A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	c.452C>G	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259581	0.39995	.	.	ENSG00000105954	ENST00000222674	T	0.25250	1.81	5.19	2.94	0.34122	.	0.222242	0.31963	N	0.006790	T	0.33381	0.0861	M	0.67953	2.075	0.09310	N	1	D	0.67145	0.996	P	0.56216	0.794	T	0.16364	-1.0405	10	0.46703	T	0.11	-0.7727	2.5932	0.04847	0.1934:0.0:0.5216:0.285	.	151	Q9HCQ7	RFRP_HUMAN	C	151	ENSP00000222674:S151C	ENSP00000222674:S151C	S	-	2	0	NPVF	25232857	0.988000	0.35896	0.006000	0.13384	0.004000	0.04260	3.301000	0.51842	1.293000	0.44690	0.655000	0.94253	TCC		0.468	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150		62	92	0	0	0	1	0	62	92				
C1orf106	55765	broad.mit.edu	37	1	200880752	200880752	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:200880752C>T	ENST00000367342.4	+	9	1586	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	C1orf106_ENST00000413687.2_Silent_p.S377S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	462										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGACGTCTCCAGCATCTCCC	0.667																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1384-1386)tcC>tcT		chromosome 1 open reading frame 106							83.0	92.0	89.0					1																	200880752		2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200880752C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1386C>T	1.37:g.200880752C>T						C1orf106_ENST00000413687.2_Silent_p.S377S	p.S462S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1586	+			462					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1386C>T																																																																																					0.667	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		49	72	0	0	0	1	0	49	72				
NTF3	4908	broad.mit.edu	37	12	5603654	5603654	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:5603654C>T	ENST00000331010.6	+	1	357	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Silent_p.L105L	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	92					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGACACCGAACTGCTGCGACA	0.632																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(313-315)Ctg>Ttg		neurotrophin 3							51.0	58.0	55.0					12																	5603654		2203	4300	6503	SO:0001819	synonymous_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603654C>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.274C>T	12.37:g.5603654C>T						NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Silent_p.L92L	p.L105L	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	525	+			92					B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	c.313C>T	CCDS8538.1																																																																																				0.632	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			29	31	0	0	0	1	0	29	31				
WIPI2	26100	broad.mit.edu	37	7	5256279	5256279	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:5256279C>T	ENST00000288828.4	+	5	699	c.467C>T	c.(466-468)cCa>cTa	p.P156L	WIPI2_ENST00000404704.3_Missense_Mutation_p.P156L|WIPI2_ENST00000484262.1_Missense_Mutation_p.P97L|WIPI2_ENST00000401525.3_Missense_Mutation_p.P138L|WIPI2_ENST00000382384.2_Missense_Mutation_p.P138L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	156					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GAGACGCCTCCAAACCCTGCA	0.463																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(466-468)cCa>cTa		WD repeat domain, phosphoinositide interacting 2							106.0	93.0	97.0					7																	5256279		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5256279C>T		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.467C>T	7.37:g.5256279C>T	ENSP00000288828:p.Pro156Leu					WIPI2_ENST00000401525.3_Missense_Mutation_p.P138L|WIPI2_ENST00000404704.3_Missense_Mutation_p.P156L|WIPI2_ENST00000484262.1_Missense_Mutation_p.P97L|WIPI2_ENST00000382384.2_Missense_Mutation_p.P138L	p.P156L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	5	699	+		Ovarian(82;0.0175)	156					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.467C>T	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882823	0.51908	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.58210	0.7;0.35;0.7;0.35;0.8	5.09	5.09	0.68999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.106634	0.64402	D	0.000003	T	0.67543	0.2904	M	0.83603	2.65	0.80722	D	1	D;B;D;B;B;B	0.59357	0.968;0.081;0.985;0.371;0.371;0.141	P;B;P;B;B;B	0.53450	0.726;0.099;0.653;0.198;0.198;0.097	T	0.72966	-0.4131	10	0.59425	D	0.04	-20.8155	14.473	0.67529	0.0:0.853:0.147:0.0	.	150;97;138;138;156;156	E7EVF6;Q9Y4P8-3;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;.;WIPI2_HUMAN	L	156;138;156;138;97;150	ENSP00000288828:P156L;ENSP00000384945:P138L;ENSP00000385297:P156L;ENSP00000371821:P138L;ENSP00000429654:P97L	ENSP00000288828:P156L	P	+	2	0	WIPI2	5222805	1.000000	0.71417	0.996000	0.52242	0.730000	0.41778	7.400000	0.79949	2.523000	0.85059	0.462000	0.41574	CCA		0.463	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		16	21	0	0	0	1	0	16	21				
PKD1	5310	broad.mit.edu	37	16	2161835	2161835	+	Silent	SNP	G	G	A	rs185901705		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr16:2161835G>A	ENST00000262304.4	-	15	3541	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	PKD1_ENST00000423118.1_Silent_p.F1111F|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1111	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCAGGTTCTCGAAGGCATTAG	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		15741	0.0		0.001	False		,,,				2504	0.0					ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3331-3333)ttC>ttT		polycystic kidney disease 1 (autosomal dominant)							24.0	25.0	25.0					16																	2161835		2188	4296	6484	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161835G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3333C>T	16.37:g.2161835G>A						PKD1_ENST00000423118.1_Silent_p.F1111F	p.F1111F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	3541	-			1111			PKD 5.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.3333C>T	CCDS32369.1																																																																																				0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	14	0	0	0	1	0	4	14				
AIFM2	84883	broad.mit.edu	37	10	71880314	71880314	+	Silent	SNP	C	C	T	rs556198278	byFrequency	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr10:71880314C>T	ENST00000307864.1	-	5	669	c.456G>A	c.(454-456)tcG>tcA	p.S152S	AIFM2_ENST00000482166.1_5'Flank|AIFM2_ENST00000373248.1_Silent_p.S152S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	152					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CCACTCCAGCCGAGCCTCCTC	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		20465	0.0		0.001	False		,,,				2504	0.001					ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(454-456)tcG>tcA		apoptosis-inducing factor, mitochondrion-associated, 2							158.0	147.0	151.0					10																	71880314		2203	4300	6503	SO:0001819	synonymous_variant	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71880314C>T	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.456G>A	10.37:g.71880314C>T						AIFM2_ENST00000373248.1_Silent_p.S152S	p.S152S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			5	669	-			152					B3KXI0|Q63Z39	Silent	SNP	ENST00000307864.1	37	c.456G>A	CCDS7297.1																																																																																				0.522	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		39	73	0	0	0	1	0	39	73				
GPR123	84435	broad.mit.edu	37	10	134898495	134898495	+	5'Flank	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr10:134898495T>C	ENST00000392607.3	+	0	0				GPR123_ENST00000607359.1_Silent_p.R519R|RP13-439H18.4_ENST00000444433.1_RNA	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123						G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AACAGGAACGTATCCTCCGCC	0.532																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(1555-1557)cgT>cgC		G protein-coupled receptor 123							139.0	135.0	136.0					10																	134898495		1568	3582	5150	SO:0001631	upstream_gene_variant	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134898495T>C	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304		10.37:g.134898495T>C	Exception_encountered						p.R519R			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	8	1557	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	0					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	ENST00000392607.3	37	c.1557T>C	CCDS41580.1																																																																																				0.532	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			46	68	0	0	0	1	0	46	68				
USH1G	124590	broad.mit.edu	37	17	72916252	72916252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:72916252C>T	ENST00000319642.1	-	2	861	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	227					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGCCTTCGCCGCCCTGCTTG	0.692																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(679-681)Ggc>Agc		Usher syndrome 1G (autosomal recessive)							44.0	48.0	47.0					17																	72916252		2194	4265	6459	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916252C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.679G>A	17.37:g.72916252C>T	ENSP00000320076:p.Gly227Ser						p.G227S	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	861	-	all_lung(278;0.172)|Lung NSC(278;0.207)		227					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.679G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732170	0.30684	.	.	ENSG00000182040	ENST00000319642	T	0.70164	-0.46	3.68	3.68	0.42216	.	0.205168	0.24481	N	0.038147	T	0.36386	0.0965	N	0.08118	0	0.36944	D	0.892538	P	0.39404	0.672	B	0.25614	0.062	T	0.45804	-0.9236	10	0.18276	T	0.48	-19.2663	11.1334	0.48360	0.0:1.0:0.0:0.0	.	227	Q495M9	USH1G_HUMAN	S	227	ENSP00000320076:G227S	ENSP00000320076:G227S	G	-	1	0	USH1G	70427847	0.968000	0.33430	1.000000	0.80357	0.831000	0.47069	3.298000	0.51818	2.075000	0.62263	0.485000	0.47835	GGC		0.692	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		22	30	0	0	0	1	0	22	30				
CUL7	9820	broad.mit.edu	37	6	43010826	43010826	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr6:43010826C>T	ENST00000265348.3	-	18	3533	c.3448G>A	c.(3448-3450)Gtg>Atg	p.V1150M	CUL7_ENST00000535468.1_Missense_Mutation_p.V1234M|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1150					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCTCCACCACGGCCCGCCAA	0.602																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3700-3702)Gtg>Atg		cullin 7							50.0	51.0	51.0					6																	43010826		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43010826C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3448G>A	6.37:g.43010826C>T	ENSP00000265348:p.Val1150Met					CUL7_ENST00000265348.3_Missense_Mutation_p.V1150M	p.V1234M	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		18	3786	-			1150					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3700G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791814	0.70452	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	D;D	0.84370	-1.83;-1.84	5.61	5.61	0.85477	Cullin, N-terminal (1);	0.117479	0.56097	D	0.000023	D	0.90270	0.6957	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.994;1.0	D;D;D;D	0.72338	0.973;0.977;0.973;0.973	D	0.90820	0.4708	10	0.87932	D	0	-9.8485	18.628	0.91349	0.0:1.0:0.0:0.0	.	1234;1150;1234;1150	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	M	1150;1234	ENSP00000265348:V1150M;ENSP00000438788:V1234M	ENSP00000265348:V1150M	V	-	1	0	CUL7	43118804	0.999000	0.42202	0.923000	0.36655	0.293000	0.27360	4.619000	0.61218	2.641000	0.89580	0.591000	0.81541	GTG		0.602	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		11	18	0	0	0	1	0	11	18				
ZNF197	10168	broad.mit.edu	37	3	44683423	44683423	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:44683423G>A	ENST00000396058.1	+	5	968	c.801G>A	c.(799-801)gtG>gtA	p.V267V	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Silent_p.V267V|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	267	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATGAGGAGGTGACATCAAAGC	0.413																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(799-801)gtG>gtA		zinc finger protein 197							44.0	39.0	40.0					3																	44683423		2203	4300	6503	SO:0001819	synonymous_variant	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44683423G>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.801G>A	3.37:g.44683423G>A						ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.V267V	p.V267V			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	968	+			267			KRAB.		B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	c.801G>A	CCDS2717.1																																																																																				0.413	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		4	13	0	0	0	1	0	4	13				
OR11G2	390439	broad.mit.edu	37	14	20666311	20666311	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:20666311A>T	ENST00000357366.3	+	1	817	c.817A>T	c.(817-819)Aga>Tga	p.R273*		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGCTGGGAGAAGAAAGGCTTT	0.517																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(817-819)Aga>Tga		olfactory receptor, family 11, subfamily G, member 2							184.0	178.0	180.0					14																	20666311		2203	4300	6503	SO:0001587	stop_gained	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666311A>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.817A>T	14.37:g.20666311A>T	ENSP00000349930:p.Arg273*						p.R273*	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	817	+	all_cancers(95;0.00108)		273					Q6IF09|Q96R33	Nonsense_Mutation	SNP	ENST00000357366.3	37	c.817A>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	a	23.0	4.363798	0.82353	.	.	ENSG00000196832	ENST00000357366	.	.	.	4.94	3.79	0.43588	.	0.570114	0.14112	N	0.340680	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7799	0.23640	0.701:0.1598:0.0:0.1391	.	.	.	.	X	273	.	ENSP00000349930:R273X	R	+	1	2	OR11G2	19736151	0.000000	0.05858	0.853000	0.33588	0.989000	0.77384	-0.208000	0.09371	2.077000	0.62373	0.533000	0.62120	AGA		0.517	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			10	149	0	0	0	1	0	10	149				
FBLN1	2192	broad.mit.edu	37	22	45931164	45931164	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr22:45931164C>A	ENST00000327858.6	+	8	964	c.869C>A	c.(868-870)cCc>cAc	p.P290H	FBLN1_ENST00000348697.2_Missense_Mutation_p.P290H|FBLN1_ENST00000402984.3_Missense_Mutation_p.P328H|FBLN1_ENST00000262722.7_Missense_Mutation_p.P290H|FBLN1_ENST00000340923.5_Missense_Mutation_p.P290H|FBLN1_ENST00000442170.2_Missense_Mutation_p.P290H	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	290	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CGCTGCCGACCCAAGCTACAG	0.483																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(868-870)cCc>cAc		fibulin 1							100.0	89.0	93.0					22																	45931164		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45931164C>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.869C>A	22.37:g.45931164C>A	ENSP00000331544:p.Pro290His					FBLN1_ENST00000402984.3_Missense_Mutation_p.P328H|FBLN1_ENST00000340923.5_Missense_Mutation_p.P290H|FBLN1_ENST00000327858.6_Missense_Mutation_p.P290H|FBLN1_ENST00000262722.7_Missense_Mutation_p.P290H|FBLN1_ENST00000442170.2_Missense_Mutation_p.P290H	p.P290H			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	8	1016	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	290			EGF-like 3; calcium-binding (Potential).		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.869C>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	c	27.7	4.855555	0.91355	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.87179	-1.79;-2.22;-2.09;-1.89;-1.8;-1.73	5.56	5.56	0.83823	EGF-like calcium-binding (2);	0.000000	0.85682	D	0.000000	D	0.93099	0.7803	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93157	0.6554	10	0.66056	D	0.02	.	19.6284	0.95689	0.0:1.0:0.0:0.0	.	328;290;290;290	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	H	290;328;290;290;290;290	ENSP00000262723:P290H;ENSP00000385521:P328H;ENSP00000262722:P290H;ENSP00000331544:P290H;ENSP00000393812:P290H;ENSP00000342212:P290H	ENSP00000262722:P290H	P	+	2	0	FBLN1	44309828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.967000	0.76079	2.647000	0.89833	0.544000	0.68410	CCC		0.483	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		22	38	1	0	3.62473e-10	1	3.7298e-10	22	38				
CHD1	1105	broad.mit.edu	37	5	98207864	98207864	+	Missense_Mutation	SNP	A	A	G	rs200447490		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:98207864A>G	ENST00000284049.3	-	27	3901	c.3752T>C	c.(3751-3753)aTa>aCa	p.I1251T	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1251					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GCCCCAGTCTATATCAAAATG	0.348													A|||	1	0.000199681	0.0	0.0	5008	,	,		17658	0.001		0.0	False		,,,				2504	0.0					ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3751-3753)aTa>aCa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						102.0	101.0	101.0					5																	98207864		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98207864A>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3752T>C	5.37:g.98207864A>G	ENSP00000284049:p.Ile1251Thr						p.I1251T	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	27	3901	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1251					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.3752T>C	CCDS34204.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	15.87	2.962040	0.53400	.	.	ENSG00000153922	ENST00000284049	D	0.89617	-2.54	5.29	5.29	0.74685	.	0.000000	0.37437	U	0.002084	D	0.83073	0.5175	L	0.31664	0.95	0.80722	D	1	B	0.28998	0.23	B	0.24006	0.05	T	0.81773	-0.0779	10	0.51188	T	0.08	.	15.526	0.75905	1.0:0.0:0.0:0.0	.	1251	O14646	CHD1_HUMAN	T	1251	ENSP00000284049:I1251T	ENSP00000284049:I1251T	I	-	2	0	CHD1	98235764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.143000	0.66587	0.528000	0.53228	ATA		0.348	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		5	71	0	0	0	1	0	5	71				
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652																																						ENST00000355349.3																			1	Substitution - coding silent(1)	p.L1361L(1)	lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4081-4083)ctT>ctG		myosin, heavy chain 7, cardiac muscle, beta							77.0	71.0	73.0					14																	23887505		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887505A>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4083T>G	14.37:g.23887505A>C							p.L1361L	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4245	-	all_cancers(95;2.54e-05)		1361					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4083T>G	CCDS9601.1																																																																																				0.652	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	71	0	0	0	1	0	4	71				
PTPN21	11099	broad.mit.edu	37	14	88938593	88938593	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:88938593T>C	ENST00000556564.1	-	15	3150	c.2866A>G	c.(2866-2868)Att>Gtt	p.I956V	PTPN21_ENST00000328736.3_Missense_Mutation_p.I956V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	956	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCACCTTAATATGTGATGCG	0.373																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2866-2868)Att>Gtt		protein tyrosine phosphatase, non-receptor type 21							178.0	155.0	163.0					14																	88938593		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88938593T>C	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2866A>G	14.37:g.88938593T>C	ENSP00000452414:p.Ile956Val					PTPN21_ENST00000328736.3_Missense_Mutation_p.I956V	p.I956V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			15	3150	-			956			Tyrosine-protein phosphatase.			Missense_Mutation	SNP	ENST00000556564.1	37	c.2866A>G	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	8.999	0.979630	0.18812	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.12984	2.63;2.63	5.86	4.72	0.59763	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.121023	0.56097	D	0.000029	T	0.10637	0.0260	N	0.17800	0.525	0.34552	D	0.711461	B	0.12013	0.005	B	0.23716	0.048	T	0.09037	-1.0693	10	0.48119	T	0.1	.	12.0543	0.53524	0.0:0.067:0.0:0.933	.	956	Q16825	PTN21_HUMAN	V	956	ENSP00000330276:I956V;ENSP00000452414:I956V	ENSP00000330276:I956V	I	-	1	0	PTPN21	88008346	1.000000	0.71417	0.981000	0.43875	0.048000	0.14542	3.421000	0.52742	1.049000	0.40321	-0.254000	0.11334	ATT		0.373	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			21	19	0	0	0	1	0	21	19				
SH2D2A	9047	broad.mit.edu	37	1	156785835	156785835	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:156785835A>G	ENST00000368199.3	-	2	239	c.86T>C	c.(85-87)aTg>aCg	p.M29T	NTRK1_ENST00000392302.2_Intron|SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000392306.2_Missense_Mutation_p.M29T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.M11T	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	29					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCGGGTCATGTCTGTGAT	0.612																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(85-87)aTg>aCg		SH2 domain containing 2A							74.0	74.0	74.0					1																	156785835		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156785835A>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.86T>C	1.37:g.156785835A>G	ENSP00000357182:p.Met29Thr					NTRK1_ENST00000392302.2_Intron|SH2D2A_ENST00000368198.3_Missense_Mutation_p.M11T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.M29T|SH2D2A_ENST00000495306.1_5'UTR	p.M29T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			2	225	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		29					O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.86T>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	A	9.644	1.139838	0.21205	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.55052	0.95;0.54;0.95	4.9	-0.237	0.13061	.	28.507700	0.00166	N	0.000000	T	0.14787	0.0357	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.15930	0.015;0.009;0.005	B;B;B	0.13407	0.009;0.004;0.004	T	0.12941	-1.0528	10	0.49607	T	0.09	-2.4783	4.2935	0.10890	0.5583:0.1678:0.2738:0.0	.	29;11;29	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	T	29;11;29	ENSP00000357182:M29T;ENSP00000357181:M11T;ENSP00000376123:M29T	ENSP00000357181:M11T	M	-	2	0	SH2D2A	155052459	0.005000	0.15991	0.000000	0.03702	0.014000	0.08584	0.587000	0.23909	-0.124000	0.11724	-0.250000	0.11733	ATG		0.612	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		13	8	0	0	0	1	0	13	8				
MYO9A	4649	broad.mit.edu	37	15	72122614	72122614	+	Silent	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:72122614T>C	ENST00000356056.5	-	40	7348	c.6876A>G	c.(6874-6876)ccA>ccG	p.P2292P	MYO9A_ENST00000564571.1_Silent_p.P2292P|MYO9A_ENST00000424560.1_Silent_p.P2363P|MYO9A_ENST00000444904.1_Silent_p.P2273P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2292	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGGAGACGATGGACCTGGAT	0.468																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6874-6876)ccA>ccG		myosin IXA							122.0	117.0	119.0					15																	72122614		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72122614T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6876A>G	15.37:g.72122614T>C						MYO9A_ENST00000564571.1_Silent_p.P2292P|MYO9A_ENST00000444904.1_Silent_p.P2273P|MYO9A_ENST00000424560.1_Silent_p.P2363P	p.P2292P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			40	7348	-			2292			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.6876A>G	CCDS10239.1																																																																																				0.468	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		42	32	0	0	0	1	0	42	32				
FGF14	2259	broad.mit.edu	37	13	103053948	103053948	+	Silent	SNP	C	C	T			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr13:103053948C>T	ENST00000376131.4	-	1	176	c.81G>A	c.(79-81)agG>agA	p.R27R	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTAGACACCCTGAGAAAGA	0.413																																						ENST00000376131.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(79-81)agG>agA		fibroblast growth factor 14							82.0	77.0	78.0					13																	103053948		2203	4300	6503	SO:0001819	synonymous_variant	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:103053948C>T		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376131.4:c.81G>A	13.37:g.103053948C>T						RP11-811P12.3_ENST00000418923.2_RNA	p.R27R	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN			1	176	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		0					Q86YN7|Q96QX6	Silent	SNP	ENST00000376131.4	37	c.81G>A	CCDS9500.1																																																																																				0.413	FGF14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045680.5			22	53	0	0	0	1	0	22	53				
PPP1R42	286187	broad.mit.edu	37	8	67923054	67923054	+	Missense_Mutation	SNP	T	T	A	rs199652718		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr8:67923054T>A	ENST00000324682.5	-	5	592	c.448A>T	c.(448-450)Ata>Tta	p.I150L	PPP1R42_ENST00000517834.1_5'Flank|PPP1R42_ENST00000522909.1_Missense_Mutation_p.I150L	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	150					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ATATTCAATATACAGAGGGAT	0.308																																						ENST00000522909.1																			0											c.(448-450)Ata>Tta		protein phosphatase 1, regulatory subunit 42							57.0	60.0	59.0					8																	67923054		2203	4287	6490	SO:0001583	missense	286187							g.chr8:67923054T>A	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.448A>T	8.37:g.67923054T>A	ENSP00000315035:p.Ile150Leu					PPP1R42_ENST00000324682.5_Missense_Mutation_p.I150L	p.I150L			Q7Z4L9	LRC67_HUMAN			5	632	-			150						Missense_Mutation	SNP	ENST00000324682.5	37	c.448A>T	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.506266	0.44558	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.37752	2.25;1.18	5.83	4.68	0.58851	.	0.390235	0.31438	N	0.007643	T	0.25901	0.0631	L	0.33792	1.035	0.27244	N	0.959066	B	0.12630	0.006	B	0.18871	0.023	T	0.19224	-1.0312	10	0.54805	T	0.06	-1.3192	6.3005	0.21109	0.0:0.2911:0.0:0.7089	.	150	Q7Z4L9-2	.	L	150	ENSP00000429721:I150L;ENSP00000315035:I150L	ENSP00000315035:I150L	I	-	1	0	LRRC67	68085608	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	1.131000	0.31406	1.048000	0.40298	0.482000	0.46254	ATA		0.308	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		24	24	0	0	0	1	0	24	24				
ATP10D	57205	broad.mit.edu	37	4	47556756	47556756	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr4:47556756T>C	ENST00000273859.3	+	11	1918	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	550					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAGACGTGGTACCAGACACC	0.363																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1648-1650)gTa>gCa		ATPase, class V, type 10D							87.0	86.0	87.0					4																	47556756		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47556756T>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1649T>C	4.37:g.47556756T>C	ENSP00000273859:p.Val550Ala						p.V550A	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			11	1918	+			550					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1649T>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505608	0.44558	.	.	ENSG00000145246	ENST00000273859	T	0.62941	-0.01	5.19	5.19	0.71726	HAD-like domain (1);	0.253581	0.31554	N	0.007456	T	0.63733	0.2536	L	0.56769	1.78	0.80722	D	1	B	0.23442	0.085	B	0.37091	0.241	T	0.59563	-0.7431	10	0.23302	T	0.38	-9.3787	14.5479	0.68044	0.0:0.0:0.0:1.0	.	550	Q9P241	AT10D_HUMAN	A	550	ENSP00000273859:V550A	ENSP00000273859:V550A	V	+	2	0	ATP10D	47251513	1.000000	0.71417	0.988000	0.46212	0.363000	0.29612	4.894000	0.63206	2.076000	0.62316	0.533000	0.62120	GTA		0.363	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		25	33	0	0	0	1	0	25	33				
MYH6	4624	broad.mit.edu	37	14	23855703	23855703	+	Missense_Mutation	SNP	G	G	A	rs545198745		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:23855703G>A	ENST00000356287.3	-	32	4809	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.R1594W			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1594					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R1594R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCACCACCCGCTGGTGGTTG	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19882	0.0		0.0	False		,,,				2504	0.0					ENST00000405093.3																			1	Substitution - coding silent(1)	p.R1594R(1)	lung(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(4780-4782)Cgg>Tgg		myosin, heavy chain 6, cardiac muscle, alpha							175.0	176.0	175.0					14																	23855703		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855703G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4780C>T	14.37:g.23855703G>A	ENSP00000348634:p.Arg1594Trp					MYH6_ENST00000356287.3_Missense_Mutation_p.R1594W	p.R1594W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4850	-	all_cancers(95;2.54e-05)		1594					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4780C>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	g	17.20	3.330056	0.60743	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80123	-1.34;-1.34	4.4	4.4	0.53042	Myosin tail (1);	.	.	.	.	D	0.91012	0.7173	M	0.91300	3.195	0.41802	D	0.989928	D	0.89917	1.0	D	0.87578	0.998	D	0.92973	0.6399	9	0.87932	D	0	.	13.2162	0.59861	0.0:0.0:0.7652:0.2348	.	1594	P13533	MYH6_HUMAN	W	1594	ENSP00000386041:R1594W;ENSP00000348634:R1594W	ENSP00000348634:R1594W	R	-	1	2	MYH6	22925543	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	1.855000	0.39378	2.146000	0.66826	0.561000	0.74099	CGG		0.592	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			50	107	0	0	0	1	0	50	107				
SEC23A	10484	broad.mit.edu	37	14	39502455	39502455	+	Silent	SNP	G	G	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:39502455G>A	ENST00000307712.6	-	20	2803	c.2286C>T	c.(2284-2286)tcC>tcT	p.S762S	SEC23A_ENST00000536508.1_Silent_p.S660S|SEC23A_ENST00000537403.1_Silent_p.S560S|SEC23A_ENST00000545328.2_Silent_p.S733S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	762					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGCAGCACTGGACACAGCAA	0.328																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1678-1680)tcC>tcT		Sec23 homolog A (S. cerevisiae)							101.0	104.0	103.0					14																	39502455		2203	4299	6502	SO:0001819	synonymous_variant	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39502455G>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.2286C>T	14.37:g.39502455G>A						SEC23A_ENST00000536508.1_Silent_p.S660S|SEC23A_ENST00000545328.2_Silent_p.S733S|SEC23A_ENST00000307712.6_Silent_p.S762S	p.S560S			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	16	2882	-	Hepatocellular(127;0.213)		762					B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	c.1680C>T	CCDS9668.1																																																																																				0.328	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			4	76	0	0	0	1	0	4	76				
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			4	8						4	8	---	---	---	---
SLC6A19	340024	broad.mit.edu	37	5	1216915	1216915	+	Frame_Shift_Del	DEL	C	C	-	rs201511165		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:1216915delC	ENST00000304460.10	+	8	1084	c.1028delC	c.(1027-1029)accfs	p.T343fs		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	343					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.T343I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTGACCCTCATCAAC	0.657																																						ENST00000304460.10																			1	Substitution - Missense(1)	p.T343I(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1027-1029)acfs		solute carrier family 6 (neutral amino acid transporter), member 19							119.0	104.0	109.0					5																	1216915		2203	4300	6503	SO:0001589	frameshift_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216915delC	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1028delC	5.37:g.1216915delC	ENSP00000305302:p.Thr343fs						p.T343fs	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1084	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		343					A8K446	Frame_Shift_Del	DEL	ENST00000304460.10	37	c.1028delC	CCDS34130.1																																																																																				0.657	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		48	67						48	67	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43465682	43465683	+	In_Frame_Ins	INS	-	-	ACA			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr11:43465682_43465683insACA	ENST00000039989.4	+	18	2602_2603	c.2588_2589insACA	c.(2587-2592)ggtcag>ggACAtcag	p.863_864GQ>GHQ	TTC17_ENST00000299240.6_In_Frame_Ins_p.920_921GQ>GHQ|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	863					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAAACAGGTCAGATAGAAA	0.421																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2587-2589)gca>gACAca		tetratricopeptide repeat domain 17																																				SO:0001652	inframe_insertion	55761						binding	g.chr11:43465682_43465683insACA	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	Exception_encountered	11.37:g.43465682_43465683insACA	ENSP00000039989:p.Gly863_Gln864insHis					TTC17_ENST00000299240.6_In_Frame_Ins_p.920_920A>DT|TTC17_ENST00000526774.1_3'UTR	p.863_863A>DT	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			18	2602_2603	+			863					G3XAB3|Q8NEC0	In_Frame_Ins	INS	ENST00000039989.4	37	c.2588_2589insACA	CCDS31466.1																																																																																				0.421	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		7	55						7	55	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749492	33749493	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:33749492_33749493insA	ENST00000394562.1	-	4	1078_1079	c.555_556insT	c.(553-558)tttgatfs	p.D186fs	SLFN12_ENST00000452764.3_Frame_Shift_Ins_p.D186fs|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000304905.5_Frame_Shift_Ins_p.D186fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	186							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGTTCTATCAAAAAAAACCC	0.366																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(553-558)ttatagfs		schlafen family member 12				7,4195		1,5,2095						-0.7	0.0			58	10,8220		0,10,4105	no	frameshift	SLFN12	NM_018042.3		1,15,6200	A1A1,A1R,RR		0.1215,0.1666,0.1367				17,12415				SO:0001589	frameshift_variant	55106						ATP binding	g.chr17:33749492_33749493insA	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.556dupT	17.37:g.33749500_33749500dupA	ENSP00000378063:p.Asp186fs					SLFN12_ENST00000304905.5_Frame_Shift_Ins_p.L*185fs|SLFN12_ENST00000452764.3_Frame_Shift_Ins_p.L*185fs	p.L*185fs			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1078_1079	-		Ovarian(249;0.17)	185					A8K711|Q9NP47	Frame_Shift_Ins	INS	ENST00000394562.1	37	c.555_556insT	CCDS11295.1																																																																																				0.366	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		30	77						30	77	---	---	---	---
KCNG2	26251	broad.mit.edu	37	18	77623899	77623899	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr18:77623899delT	ENST00000316249.3	+	1	232	c.232delT	c.(232-234)ttcfs	p.F78fs		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	78					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCCGTGCGCCTTCCGCGCCAT	0.716																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(232-234)tcfs		potassium voltage-gated channel, subfamily G, member 2							17.0	15.0	16.0					18																	77623899		2179	4278	6457	SO:0001589	frameshift_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77623899delT	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.232delT	18.37:g.77623899delT	ENSP00000315654:p.Phe78fs						p.F78fs	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	232	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	78						Frame_Shift_Del	DEL	ENST00000316249.3	37	c.232delT	CCDS12019.1																																																																																				0.716	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		2	4						2	4	---	---	---	---
