#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
RSF1	51773	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	77386296	77386296	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:77386296T>C	ENST00000308488.6	-	14	3649	c.3347A>G	c.(3346-3348)cAa>cGa	p.Q1116R	RSF1_ENST00000480887.1_Missense_Mutation_p.Q864R|RSF1_ENST00000360355.2_Missense_Mutation_p.Q1085R			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1116					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AAACTCATCTTGAGATCTGTC	0.393																																																0													73.0	70.0	71.0					11																	77386296		2200	4292	6492	SO:0001583	missense	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3347A>G	11.37:g.77386296T>C	ENSP00000311513:p.Gln1116Arg		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339011	0.81911	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026	D;D;D;D	0.91577	-2.0;-2.03;-2.0;-2.87	4.97	4.97	0.65823	.	0.000000	0.49305	D	0.000148	D	0.87581	0.6213	N	0.22421	0.69	0.37246	D	0.906338	P	0.51791	0.948	P	0.48738	0.588	D	0.90952	0.4806	10	0.72032	D	0.01	-15.2879	14.4865	0.67622	0.0:0.0:0.0:1.0	.	1116	Q96T23	RSF1_HUMAN	R	1116;864;1085;225	ENSP00000311513:Q1116R;ENSP00000434509:Q864R;ENSP00000353511:Q1085R;ENSP00000433603:Q225R	ENSP00000311513:Q1116R	Q	-	2	0	RSF1	77063944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.436000	0.73417	2.082000	0.62665	0.528000	0.53228	CAA		0.393	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		20	21	20	21
AMOTL1	154810	hgsc.bcm.edu;broad.mit.edu	37	11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:94554698G>A	ENST00000433060.2	+	4	1265	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_ENST00000317829.8_Missense_Mutation_p.R325H|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R375H|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	375					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602																																																0													27.0	33.0	31.0					11																	94554698		2144	4244	6388	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1124G>A	11.37:g.94554698G>A	ENSP00000387739:p.Arg375His		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913356	0.52439	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13089	2.62;2.62;2.62	5.68	5.68	0.88126	.	0.076575	0.56097	D	0.000032	T	0.33789	0.0875	M	0.66939	2.045	0.51482	D	0.999926	D;D	0.76494	0.999;0.996	D;P	0.65323	0.934;0.67	T	0.02813	-1.1107	10	0.13853	T	0.58	-25.1937	19.7951	0.96477	0.0:0.0:1.0:0.0	.	325;375	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	H	325;381;375;375	ENSP00000320968:R325H;ENSP00000323474:R375H;ENSP00000387739:R375H	ENSP00000320968:R325H	R	+	2	0	AMOTL1	94194346	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	5.190000	0.65104	2.698000	0.92095	0.561000	0.74099	CGC		0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		3	46	3	46
ABCC9	10060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	22069947	22069947	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:22069947C>T	ENST00000261201.4	-	4	496	c.497G>A	c.(496-498)cGt>cAt	p.R166H	ABCC9_ENST00000345162.2_Missense_Mutation_p.R166H|ABCC9_ENST00000261200.4_Missense_Mutation_p.R166H	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	166					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GATGCAGAAACGCAGGTTTGA	0.418																																																0													209.0	197.0	201.0					12																	22069947		2203	4300	6503	SO:0001583	missense	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.497G>A	12.37:g.22069947C>T	ENSP00000261201:p.Arg166His		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021333	0.93462	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92545	-3.05;-3.06;-3.04	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.95;0.999	D	0.96604	0.9447	10	0.87932	D	0	-8.0473	18.4944	0.90860	0.0:1.0:0.0:0.0	.	166;166	O60706;O60706-2	ABCC9_HUMAN;.	H	166	ENSP00000261200:R166H;ENSP00000261201:R166H;ENSP00000261202:R166H	ENSP00000261200:R166H	R	-	2	0	ABCC9	21961214	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.625000	0.83145	2.371000	0.80710	0.650000	0.86243	CGT		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		35	192	35	192
CAPS2	84698	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	75692508	75692508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:75692508G>A	ENST00000409445.3	-	12	1256	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R272*|CAPS2_ENST00000393284.3_Nonsense_Mutation_p.R122*	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	354							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CCTTTTCTTCGTCCACACTGA	0.353																																																0													147.0	143.0	145.0					12																	75692508		2203	4299	6502	SO:0001587	stop_gained	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1060C>T	12.37:g.75692508G>A	ENSP00000386959:p.Arg354*		Q6PH84|Q8N242|Q8NAY5	Nonsense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	38	6.815581	0.97861	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	.	.	.	5.49	4.59	0.56863	.	0.386973	0.22483	N	0.059473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.341	15.7485	0.77965	0.0:0.0:0.8626:0.1374	.	.	.	.	X	272;354;90;122	.	ENSP00000367975:R90X	R	-	1	2	CAPS2	73978775	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.631000	0.54280	1.307000	0.44944	0.542000	0.68232	CGA		0.353	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			13	30	13	30
DDX51	317781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	132626153	132626153	+	Splice_Site	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:132626153T>C	ENST00000397333.3	-	7	1034		c.e7-2		NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCATCAGCTCTACAGACCAGA	0.622																																																0													34.0	44.0	41.0					12																	132626153		2119	4231	6350	SO:0001630	splice_region_variant	317781			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.996-2A>G	12.37:g.132626153T>C			A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Splice_Site	SNP	ENST00000397333.3	37	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320299	0.41096	.	.	ENSG00000185163	ENST00000397333	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.371	0.55254	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX51	131192106	1.000000	0.71417	0.024000	0.17045	0.002000	0.02628	4.854000	0.62918	1.805000	0.52779	0.482000	0.46254	.		0.622	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066	Intron	21	36	21	36
SLITRK5	26050	hgsc.bcm.edu;broad.mit.edu	37	13	88329500	88329500	+	Silent	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:88329500A>G	ENST00000325089.6	+	2	2076	c.1857A>G	c.(1855-1857)gtA>gtG	p.V619V	SLITRK5_ENST00000400028.3_Silent_p.V378V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	619					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGATGTAGTAGTTTCCACGC	0.592																																																0													136.0	128.0	131.0					13																	88329500		2203	4300	6503	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1857A>G	13.37:g.88329500A>G			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1																																																																																				0.592	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			19	219	19	219
TMTC4	84899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	101294549	101294549	+	Silent	SNP	C	C	T	rs373303346		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:101294549C>T	ENST00000376234.3	-	6	789	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TMTC4_ENST00000328767.5_Silent_p.A89A|TMTC4_ENST00000342624.5_Silent_p.A219A|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGAAGAATGCGCTCCCTCCT	0.468																																																0								C	,	0,4114		0,0,2057	125.0	135.0	132.0		600,657	-11.4	0.0	13		132	3,8373		0,3,4185	no	coding-synonymous,coding-synonymous	TMTC4	NM_001079669.1,NM_032813.2	,	0,3,6242	TT,TC,CC		0.0358,0.0,0.024	,	200/742,219/761	101294549	3,12487	2057	4188	6245	SO:0001819	synonymous_variant	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.600G>A	13.37:g.101294549C>T			A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	CCDS41904.1																																																																																				0.468	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		53	124	53	124
CCDC33	80125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	74623086	74623086	+	Silent	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:74623086G>A	ENST00000398814.3	+	13	1970	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L	CCDC33_ENST00000268082.4_Silent_p.L106L|CCDC33_ENST00000558821.1_Silent_p.L106L|CCDC33_ENST00000321288.5_Silent_p.L716L	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	716										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAATGAGCTGATTCGAGTGA	0.567																																																0													69.0	71.0	70.0					15																	74623086		1985	4160	6145	SO:0001819	synonymous_variant	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1539G>A	15.37:g.74623086G>A			A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	CCDS42058.1																																																																																				0.567	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		32	51	32	51
MYH11	4629	hgsc.bcm.edu;broad.mit.edu	37	16	15820745	15820745	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:15820745C>T	ENST00000300036.5	-	28	3927	c.3818G>A	c.(3817-3819)cGg>cAg	p.R1273Q	MYH11_ENST00000576790.2_Missense_Mutation_p.R1273Q|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_Missense_Mutation_p.R1280Q|MYH11_ENST00000396324.3_Missense_Mutation_p.R1280Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1273					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCCGGGCCCGCTCCCCATC	0.647			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													75.0	82.0	80.0					16																	15820745		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3818G>A	16.37:g.15820745C>T	ENSP00000300036:p.Arg1273Gln		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544025	0.65198	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.68	3.72	0.42706	Myosin tail (1);	0.313361	0.28895	N	0.013785	D	0.90031	0.6887	M	0.82923	2.615	0.47094	D	0.999314	D;D;D;D;D	0.69078	0.984;0.997;0.997;0.997;0.997	P;D;D;D;D	0.66351	0.794;0.943;0.943;0.943;0.916	D	0.90465	0.4449	10	0.59425	D	0.04	.	12.2322	0.54495	0.0:0.917:0.0:0.083	.	1280;1273;1280;1273;1280	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	1273;1273;1280;1280;1280	ENSP00000300036:R1273Q;ENSP00000345136:R1273Q;ENSP00000379616:R1280Q;ENSP00000407821:R1280Q	ENSP00000300036:R1273Q	R	-	2	0	MYH11	15728246	0.991000	0.36638	0.933000	0.37362	0.451000	0.32288	2.725000	0.47294	1.099000	0.41499	0.655000	0.94253	CGG		0.647	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		89	111	89	111
KCNG4	93107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	84270707	84270707	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270707C>T	ENST00000308251.4	-	2	453	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	KCNG4_ENST00000568181.1_Missense_Mutation_p.A129T	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	129					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCTTCCCGGCCGCCAGGAAG	0.637																																																0													47.0	50.0	49.0					16																	84270707		2200	4300	6500	SO:0001583	missense	93107			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.385G>A	16.37:g.84270707C>T	ENSP00000312129:p.Ala129Thr		Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271060	0.80469	.	.	ENSG00000168418	ENST00000308251	T	0.74526	-0.85	5.12	4.16	0.48862	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.052146	0.85682	D	0.000000	T	0.69333	0.3099	N	0.10972	0.075	0.50467	D	0.999878	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.989	T	0.64943	-0.6288	10	0.02654	T	1	.	14.761	0.69607	0.0:0.8548:0.1452:0.0	.	129;129	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	T	129	ENSP00000312129:A129T	ENSP00000312129:A129T	A	-	1	0	KCNG4	82828208	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.988000	0.70579	1.131000	0.42111	0.549000	0.68633	GCC		0.637	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		28	62	28	62
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	27	14	27
SREBF1	6720	hgsc.bcm.edu;broad.mit.edu	37	17	17717650	17717650	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717650G>C	ENST00000261646.5	-	16	2994	c.2810C>G	c.(2809-2811)tCt>tGt	p.S937C	SREBF1_ENST00000355815.4_Missense_Mutation_p.S967C|SREBF1_ENST00000395757.1_Missense_Mutation_p.S683C|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000338854.5_Missense_Mutation_p.S937C	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	937					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCTGGACCAGACTCTGCCTT	0.642																																																0													23.0	18.0	20.0					17																	17717650		2189	4289	6478	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2810C>G	17.37:g.17717650G>C	ENSP00000261646:p.Ser937Cys		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960797	0.53400	.	.	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.57	3.6	0.41247	.	0.412865	0.26457	N	0.024279	T	0.31327	0.0793	M	0.68593	2.085	0.19575	N	0.999964	B;D;D	0.69078	0.002;0.997;0.995	B;P;P	0.60789	0.003;0.818;0.879	T	0.03969	-1.0988	10	0.72032	D	0.01	-4.9006	7.9956	0.30267	0.0918:0.1658:0.7424:0.0	.	937;967;556	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	C	937;967;937;683;556;774;863	ENSP00000345822:S937C;ENSP00000348069:S967C;ENSP00000261646:S937C;ENSP00000379106:S683C	ENSP00000261646:S937C	S	-	2	0	SREBF1	17658375	0.087000	0.21565	0.032000	0.17829	0.959000	0.62525	2.855000	0.48333	2.544000	0.85801	0.555000	0.69702	TCT		0.642	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		6	5	6	5
RPL23	9349	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	37006642	37006642	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:37006642T>C	ENST00000479035.2	-	4	445	c.313A>G	c.(313-315)Ata>Gta	p.I105V	RPL23_ENST00000394333.1_Intron|RPL23_ENST00000577407.1_Missense_Mutation_p.I105V|SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000394332.1_Missense_Mutation_p.I105V|SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000245857.5_Missense_Mutation_p.I46V	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						TTGTTCACTATGACTCCTGCA	0.423																																																0													186.0	152.0	163.0					17																	37006642		2203	4300	6503	SO:0001583	missense	9349			X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.313A>G	17.37:g.37006642T>C	ENSP00000420311:p.Ile105Val		P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Missense_Mutation	SNP	ENST00000479035.2	37	CCDS11330.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607038	0.87157	.	.	ENSG00000125691	ENST00000479035;ENST00000394332	.	.	.	5.4	5.4	0.78164	Ribosomal protein L14 conserved site (1);Ribosomal protein L14 domain (2);	0.000000	0.85682	U	0.000000	D	0.83871	0.5348	M	0.87758	2.905	0.80722	D	1	B	0.27450	0.179	P	0.48304	0.573	D	0.84462	0.0594	9	0.59425	D	0.04	-1.0088	14.2406	0.65954	0.0:0.0:0.0:1.0	.	105	P62829	RL23_HUMAN	V	105	.	ENSP00000377865:I105V	I	-	1	0	RPL23	34260168	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.963000	0.87922	2.061000	0.61500	0.397000	0.26171	ATA		0.423	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978		43	70	43	70
NAGLU	4669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40695939	40695939	+	Nonsense_Mutation	SNP	G	G	T	rs555145190		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:40695939G>T	ENST00000225927.2	+	6	2016	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	639					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGATTTCTACGAGCAGAACAG	0.617																																																0			GRCh37	CM053338	NAGLU	M							25.0	21.0	22.0					17																	40695939		2201	4295	6496	SO:0001587	stop_gained	4669				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1915G>T	17.37:g.40695939G>T	ENSP00000225927:p.Glu639*			Nonsense_Mutation	SNP	ENST00000225927.2	37	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	39	7.565372	0.98361	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	.	.	.	4.69	4.69	0.59074	.	0.050710	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.478	16.7273	0.85426	0.0:0.0:1.0:0.0	.	.	.	.	X	639;315	.	ENSP00000225927:E639X	E	+	1	0	NAGLU	37949465	1.000000	0.71417	0.994000	0.49952	0.920000	0.55202	6.297000	0.72757	2.605000	0.88082	0.561000	0.74099	GAG		0.617	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		5	12	5	12
G6PC	2538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	41063361	41063361	+	Missense_Mutation	SNP	C	C	T	rs149486847	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:41063361C>T	ENST00000253801.2	+	5	1071	c.992C>T	c.(991-993)gCg>gTg	p.A331V	G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	331					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.A331V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCAAGAGTGCGGTAGTGCCC	0.572													C|||	6	0.00119808	0.0	0.0	5008	,	,		20686	0.0		0.0	False		,,,				2504	0.0061															1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	131.0	128.0	129.0		992	4.9	0.9	17	dbSNP_134	129	2,8598	2.2+/-6.3	0,2,4298	yes	missense	G6PC	NM_000151.2	64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	331/358	41063361	3,13003	2203	4300	6503	SO:0001583	missense	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.992C>T	17.37:g.41063361C>T	ENSP00000253801:p.Ala331Val		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658290	0.47467	2.27E-4	2.33E-4	ENSG00000131482	ENST00000253801	T	0.75821	-0.97	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.39397	1.21	0.80722	D	1	P	0.48230	0.907	B	0.33295	0.161	T	0.62863	-0.6764	10	0.36615	T	0.2	.	11.735	0.51759	0.0:0.9197:0.0:0.0803	.	331	P35575	G6PC_HUMAN	V	331	ENSP00000253801:A331V	ENSP00000253801:A331V	A	+	2	0	G6PC	38316887	0.999000	0.42202	0.930000	0.37139	0.781000	0.44180	3.926000	0.56491	2.552000	0.86080	0.637000	0.83480	GCG		0.572	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		92	121	92	121
EFTUD2	9343	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	42949920	42949920	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:42949920C>A	ENST00000426333.2	-	11	1185	c.888G>T	c.(886-888)gaG>gaT	p.E296D	EFTUD2_ENST00000591382.1_Missense_Mutation_p.E296D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E261D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.E286D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	296	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGATCAGGTTCTCATCAGTGG	0.562																																					Ovarian(10;65 485 10258 29980 30707)											0													168.0	144.0	152.0					17																	42949920		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.888G>T	17.37:g.42949920C>A	ENSP00000392094:p.Glu296Asp		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330993	0.60853	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.76839	-1.05;-1.05	5.94	5.94	0.96194	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	N	0.16903	0.455	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15484	0.013;0.013	T	0.60219	-0.7306	10	0.12766	T	0.61	0.0747	20.3736	0.98901	0.0:1.0:0.0:0.0	.	286;296	B4DMC0;Q15029	.;U5S1_HUMAN	D	296;286;261	ENSP00000392094:E296D;ENSP00000385873:E261D	ENSP00000262414:E286D	E	-	3	2	EFTUD2	40305446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	GAG		0.562	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		107	165	107	165
AADACL4	343066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	12726312	12726312	+	Missense_Mutation	SNP	C	C	T	rs560787141		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:12726312C>T	ENST00000376221.1	+	4	790	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	264						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCTCTCCTGGCGTGACGCCAT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19680	0.0		0.0	False		,,,				2504	0.0															0													141.0	138.0	139.0					1																	12726312		2203	4300	6503	SO:0001583	missense	343066				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.790C>T	1.37:g.12726312C>T	ENSP00000365395:p.Arg264Cys			Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047875	0.36085	.	.	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.38	-8.76	0.00830	.	3.304730	0.00815	N	0.001532	T	0.37404	0.1002	L	0.27053	0.805	0.09310	N	1	B	0.21452	0.056	B	0.11329	0.006	T	0.15263	-1.0443	10	0.38643	T	0.18	0.0023	4.8917	0.13730	0.4488:0.3735:0.0779:0.0998	.	264	Q5VUY2	ADCL4_HUMAN	C	264	ENSP00000365395:R264C	ENSP00000365395:R264C	R	+	1	0	AADACL4	12648899	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-6.793000	0.00053	-2.115000	0.00831	-1.014000	0.02459	CGT		0.502	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		19	110	19	110
SIRPD	128646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	1517874	1517874	+	Silent	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr20:1517874C>T	ENST00000381623.3	-	3	1693	c.504G>A	c.(502-504)tcG>tcA	p.S168S	SIRPD_ENST00000381621.1_Silent_p.S169S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	168						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGGCAGGGCCGAGAGGCAGG	0.592																																																0													138.0	124.0	129.0					20																	1517874		2203	4300	6503	SO:0001819	synonymous_variant	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.504G>A	20.37:g.1517874C>T			B3KS88|Q5TFQ6	Silent	SNP	ENST00000381623.3	37	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	C	3.696	-0.062544	0.07273	.	.	ENSG00000125900	ENST00000429387	.	.	.	2.97	-5.94	0.02247	.	.	.	.	.	T	0.15998	0.0385	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.23440	-1.0188	4	.	.	.	.	1.3117	0.02099	0.3149:0.1136:0.3794:0.1921	.	.	.	.	Q	51	.	.	R	-	2	0	SIRPD	1465874	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.656000	0.05342	-1.371000	0.02141	-0.440000	0.05779	CGG		0.592	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		60	110	60	110
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				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		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	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			25	37	25	37
NYAP2	57624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	226446836	226446836	+	Missense_Mutation	SNP	G	G	A	rs551352616		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:226446836G>A	ENST00000272907.6	+	4	1116	c.703G>A	c.(703-705)Gcg>Acg	p.A235T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	235					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGGCAGCCCCGCGGGAGACCC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		14598	0.0		0.0	False		,,,				2504	0.001															0													98.0	105.0	103.0					2																	226446836		1890	4098	5988	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.703G>A	2.37:g.226446836G>A	ENSP00000272907:p.Ala235Thr		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790210	0.70337	.	.	ENSG00000144460	ENST00000272907	T	0.42513	0.97	5.9	4.07	0.47477	.	0.176558	0.48767	D	0.000171	T	0.62792	0.2457	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65792	-0.6082	10	0.62326	D	0.03	-16.5714	15.4634	0.75377	0.0:0.0:0.7468:0.2532	.	235	Q9P242	K1486_HUMAN	T	235	ENSP00000272907:A235T	ENSP00000272907:A235T	A	+	1	0	KIAA1486	226155080	0.999000	0.42202	0.997000	0.53966	0.828000	0.46876	4.803000	0.62546	0.814000	0.34374	0.644000	0.83932	GCG		0.597	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		104	107	104	107
GRM7	2917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	7503380	7503380	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:7503380G>A	ENST00000357716.4	+	7	1760	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	GRM7_ENST00000402647.2_Missense_Mutation_p.G496R|GRM7_ENST00000486284.1_Missense_Mutation_p.G496R|GRM7_ENST00000403881.1_Missense_Mutation_p.G496R|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.G496R	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	496					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CCGTCTGATCGGGCAGTGGAC	0.468																																																0													156.0	144.0	148.0					3																	7503380		2203	4300	6503	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1486G>A	3.37:g.7503380G>A	ENSP00000350348:p.Gly496Arg		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983214	0.93044	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97763	0.9266	M	0.81341	2.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.967	D	0.98221	1.0478	10	0.87932	D	0	.	18.4043	0.90528	0.0:0.0:1.0:0.0	.	496;251;496;496	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	R	496;496;496;496;496;496;496;153	ENSP00000350348:G496R;ENSP00000417536:G496R;ENSP00000373987:G496R;ENSP00000385664:G496R;ENSP00000384585:G496R;ENSP00000395035:G153R	ENSP00000350348:G496R	G	+	1	0	GRM7	7478380	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.813000	0.99286	2.779000	0.95612	0.655000	0.94253	GGG		0.468	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		70	118	70	118
OR5H14	403273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T	rs370923244		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393																																																1	Substitution - Missense(1)	large_intestine(1)						C	LEU/SER	1,4395	2.1+/-5.4	0,1,2197	198.0	204.0	202.0		308	0.9	0.0	3		202	0,8598		0,0,4299	no	missense	OR5H14	NM_001005514.1	145	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	103/311	97868537	1,12993	2198	4299	6497	SO:0001583	missense	403273				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.308C>T	3.37:g.97868537C>T	ENSP00000401706:p.Ser103Leu		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	5.956	0.360362	0.11296	2.27E-4	0.0	ENSG00000236032	ENST00000437310	T	0.00382	7.61	2.49	0.873	0.19118	GPCR, rhodopsin-like superfamily (1);	0.149335	0.31566	N	0.007432	T	0.00109	0.0003	N	0.00760	-1.21	0.09310	N	1	B	0.24317	0.101	B	0.17098	0.017	T	0.30679	-0.9970	10	0.39692	T	0.17	.	4.1872	0.10404	0.0:0.5102:0.0:0.4897	.	103	A6NHG9	O5H14_HUMAN	L	103	ENSP00000401706:S103L	ENSP00000401706:S103L	S	+	2	0	OR5H14	99351227	0.000000	0.05858	0.016000	0.15963	0.006000	0.05464	-0.106000	0.10890	0.365000	0.24400	0.195000	0.17529	TCG		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			84	46	84	46
PLCH1	23007	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	155200026	155200026	+	Silent	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:155200026C>T	ENST00000340059.7	-	23	3812	c.3813G>A	c.(3811-3813)acG>acA	p.T1271T	PLCH1_ENST00000414191.1_Silent_p.T1233T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1233T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.T1233T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1271					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.T1233T(1)|p.T1271T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTGTGTTCGTTGCATGTT	0.468																																																2	Substitution - coding silent(2)	lung(2)											172.0	170.0	171.0					3																	155200026		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3813G>A	3.37:g.155200026C>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	CCDS46939.1																																																																																				0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		76	96	76	96
SLC6A3	6531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	1409222	1409222	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr5:1409222T>G	ENST00000270349.9	-	11	1544	c.1417A>C	c.(1417-1419)Acg>Ccg	p.T473P	SLC6A3_ENST00000453492.2_Missense_Mutation_p.T473P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	473					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCCAGGAGCGTGAAGACGTAG	0.582																																																0													57.0	50.0	52.0					5																	1409222		2201	4297	6498	SO:0001583	missense	6531				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1417A>C	5.37:g.1409222T>G	ENSP00000270349:p.Thr473Pro		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.857024	0.32791	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74632	-0.86;-0.86	3.65	3.65	0.41850	.	0.168606	0.51477	D	0.000096	T	0.77425	0.4128	M	0.86178	2.8	0.52099	D	0.999948	B	0.27700	0.186	B	0.35688	0.208	T	0.77202	-0.2674	10	0.42905	T	0.14	.	10.5502	0.45083	0.0:0.0:0.0:1.0	.	473	Q01959	SC6A3_HUMAN	P	473	ENSP00000270349:T473P;ENSP00000399806:T473P	ENSP00000270349:T473P	T	-	1	0	SLC6A3	1462222	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	4.249000	0.58766	1.661000	0.50771	0.454000	0.30748	ACG		0.582	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		12	14	12	14
HIST1H1C	3006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	26056630	26056630	+	Silent	SNP	G	G	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:26056630G>C	ENST00000343677.2	-	1	69	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	9					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCGGCAGCGGGAGCGGCAG	0.617																																																0													29.0	34.0	32.0					6																	26056630		2174	4272	6446	SO:0001819	synonymous_variant	3006			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.27C>G	6.37:g.26056630G>C			A8K4I2	Silent	SNP	ENST00000343677.2	37	CCDS4577.1																																																																																				0.617	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		36	64	36	64
SIM1	6492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	100898211	100898211	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:100898211C>T	ENST00000369208.3	-	4	1062	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	SIM1_ENST00000262901.4_Missense_Mutation_p.V94M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	94	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGGCTACCACGAAGATGAAG	0.527																																																0													143.0	131.0	135.0					6																	100898211		2203	4300	6503	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.280G>A	6.37:g.100898211C>T	ENSP00000358210:p.Val94Met		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053087	0.93793	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.20738	2.05;2.05	4.99	4.99	0.66335	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60281	-0.7294	10	0.87932	D	0	.	18.2737	0.90076	0.0:1.0:0.0:0.0	.	94	P81133	SIM1_HUMAN	M	94	ENSP00000358210:V94M;ENSP00000262901:V94M	ENSP00000262901:V94M	V	-	1	0	SIM1	101004932	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.463000	0.80869	2.326000	0.78906	0.561000	0.74099	GTG		0.527	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		61	118	61	118
AGAP3	116988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	150840954	150840954	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:150840954C>T	ENST00000463381.1	+	16	2163	c.1667C>T	c.(1666-1668)gCg>gTg	p.A556V	AGAP3_ENST00000397238.2_Missense_Mutation_p.A887V	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	851	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGGCTTAGCGCCTACCCCC	0.647																																																0													53.0	57.0	56.0					7																	150840954		2011	4178	6189	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1667C>T	7.37:g.150840954C>T	ENSP00000418016:p.Ala556Val		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.715114|-1.715114	0.00706|0.00706	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.69435|.	4.09;-0.4|.	4.44|4.44	3.55|3.55	0.40652|0.40652	.|.	0.487154|.	0.20811|.	N|.	0.085255|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.19112|0.19112	0.55|0.55	0.19775|0.19775	N|N	0.999959|0.999959	B;B;B;B|.	0.27140|.	0.169;0.103;0.001;0.001|.	B;B;B;B|.	0.20384|.	0.029;0.01;0.003;0.001|.	T|T	0.18272|0.18272	-1.0342|-1.0342	10|5	0.52906|.	T|.	0.07|.	.|.	11.6714|11.6714	0.51403|0.51403	0.0:0.8388:0.0:0.1612|0.0:0.8388:0.0:0.1612	.|.	851;386;887;556|.	Q96P47;E7ETI2;Q96P47-4;B3KNZ8|.	AGAP3_HUMAN;.;.;.|.	V|C	556;386;887;851|380	ENSP00000418016:A556V;ENSP00000380413:A887V|.	ENSP00000334157:A851V|.	A|R	+|+	2|1	0|0	AGAP3|AGAP3	150471887|150471887	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.532000|0.532000	0.34746|0.34746	0.108000|0.108000	0.15396|0.15396	0.562000|0.562000	0.29204|0.29204	-0.797000|-0.797000	0.03246|0.03246	GCG|CGC		0.647	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		79	99	79	99
ZER1	10444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	131512920	131512920	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:131512920C>T	ENST00000291900.2	-	8	1740	c.1334G>A	c.(1333-1335)gGc>gAc	p.G445D	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	445					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGATTCCATGCCATTCAGCAC	0.627																																																0													74.0	61.0	65.0					9																	131512920		2203	4300	6503	SO:0001583	missense	10444			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1334G>A	9.37:g.131512920C>T	ENSP00000291900:p.Gly445Asp		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857026	0.91433	.	.	ENSG00000160445	ENST00000291900	T	0.06449	3.3	4.35	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.057720	0.64402	D	0.000002	T	0.17195	0.0413	M	0.65498	2.005	0.80722	D	1	P	0.39022	0.655	P	0.49361	0.608	T	0.00719	-1.1595	10	0.66056	D	0.02	-39.6271	16.0478	0.80731	0.0:1.0:0.0:0.0	.	445	Q7Z7L7	ZER1_HUMAN	D	445	ENSP00000291900:G445D	ENSP00000291900:G445D	G	-	2	0	ZER1	130552741	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.084000	0.76866	2.259000	0.74868	0.467000	0.42956	GGC		0.627	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		38	32	38	32
SETX	23064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	135211887	135211887	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:135211887T>C	ENST00000224140.5	-	6	696	c.514A>G	c.(514-516)Atc>Gtc	p.I172V	SETX_ENST00000393220.1_Missense_Mutation_p.I172V|SETX_ENST00000372169.2_Missense_Mutation_p.I172V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	172					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTCAAGATAGCCCAACGC	0.348																																																0													77.0	79.0	78.0					9																	135211887		2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.514A>G	9.37:g.135211887T>C	ENSP00000224140:p.Ile172Val		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146113	0.77888	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.83075	-1.68;-1.68;-1.68	5.9	5.9	0.94986	.	0.133750	0.48286	D	0.000197	D	0.86314	0.5903	L	0.29908	0.895	0.36015	D	0.838364	D	0.76494	0.999	D	0.76071	0.987	D	0.90118	0.4197	10	0.66056	D	0.02	.	15.5083	0.75760	0.0:0.0:0.0:1.0	.	172	Q7Z333	SETX_HUMAN	V	172	ENSP00000224140:I172V;ENSP00000361242:I172V;ENSP00000376913:I172V	ENSP00000224140:I172V	I	-	1	0	SETX	134201708	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.179000	0.71974	2.250000	0.74265	0.528000	0.53228	ATC		0.348	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		37	66	37	66
ARMC9	80210	broad.mit.edu;ucsc.edu	37	2	232079592	232079592	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:232079592G>T	ENST00000349938.4	+	4	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	76						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGTGTTCTTCGATCTGTGGGA	0.453																																																0													155.0	138.0	144.0					2																	232079592		2203	4300	6503	SO:0001583	missense	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.226G>T	2.37:g.232079592G>T	ENSP00000258417:p.Asp76Tyr		Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737813	0.30774	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	T;T	0.44083	2.25;0.93	5.81	-6.69	0.01772	.	1.588750	0.03448	N	0.210316	T	0.27384	0.0672	N	0.22421	0.69	0.09310	N	1	P	0.40875	0.731	B	0.36922	0.236	T	0.43310	-0.9399	10	0.59425	D	0.04	-3.0E-4	10.4709	0.44635	0.2392:0.3288:0.432:0.0	.	76	Q7Z3E5	ARMC9_HUMAN	Y	76	ENSP00000258417:D76Y;ENSP00000387391:D76Y	ENSP00000258417:D76Y	D	+	1	0	ARMC9	231787836	0.005000	0.15991	0.000000	0.03702	0.101000	0.19017	0.160000	0.16462	-1.414000	0.02025	-1.148000	0.01847	GAT		0.453	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		20	54	20	54
SREBF1	6720	broad.mit.edu;ucsc.edu	37	17	17717630	17717630	+	Missense_Mutation	SNP	T	T	C	rs571282377		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717630T>C	ENST00000261646.5	-	16	3014	c.2830A>G	c.(2830-2832)Atc>Gtc	p.I944V	SREBF1_ENST00000355815.4_Missense_Mutation_p.I974V|SREBF1_ENST00000395757.1_Missense_Mutation_p.I690V|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000338854.5_Missense_Mutation_p.I944V	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	944					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TTCTCACAGATGGTCAGGCTG	0.657													T|||	1	0.000199681	0.0	0.0	5008	,	,		15883	0.0		0.0	False		,,,				2504	0.001															0													28.0	22.0	24.0					17																	17717630		2189	4291	6480	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2830A>G	17.37:g.17717630T>C	ENSP00000261646:p.Ile944Val		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.33|11.33	1.607518|1.607518	0.28623|0.28623	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	.|T;T;T;T	.|0.15139	.|2.45;2.45;2.45;2.45	5.1|5.1	-2.65|-2.65	0.06095|0.06095	.|.	.|0.835488	.|0.11203	.|N	.|0.588563	T|T	0.08447|0.08447	0.0210|0.0210	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24368	.|0.036;0.102;0.024	.|B;B;B	.|0.25506	.|0.014;0.033;0.061	T|T	0.35599|0.35599	-0.9782|-0.9782	5|10	.|0.16896	.|T	.|0.51	-7.3986|-7.3986	4.8001|4.8001	0.13292|0.13292	0.1241:0.0898:0.5562:0.2299|0.1241:0.0898:0.5562:0.2299	.|.	.|944;974;563	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	R|V	951|944;974;944;690;563;781;870	.|ENSP00000345822:I944V;ENSP00000348069:I974V;ENSP00000261646:I944V;ENSP00000379106:I690V	.|ENSP00000261646:I944V	H|I	-|-	2|1	0|0	SREBF1|SREBF1	17658355|17658355	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	1.066000|1.066000	0.30604|0.30604	-0.212000|-0.212000	0.10109|0.10109	0.454000|0.454000	0.30748|0.30748	CAT|ATC		0.657	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		6	5	6	5
GOLGA4	2803	broad.mit.edu;ucsc.edu	37	3	37402755	37402755	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:37402755A>G	ENST00000361924.2	+	23	7059	c.6685A>G	c.(6685-6687)Atc>Gtc	p.I2229V	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2229					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCGCAGTGGTATCTTCTGAGT	0.353																																																0													185.0	160.0	168.0					3																	37402755		2203	4300	6503	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6685A>G	3.37:g.37402755A>G	ENSP00000354486:p.Ile2229Val		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.673577	0.47781	.	.	ENSG00000144674	ENST00000361924	T	0.24908	1.83	5.7	4.52	0.55395	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.80722	D	1	D	0.53312	0.959	B	0.43950	0.437	T	0.05971	-1.0853	9	0.87932	D	0	.	12.939	0.58331	0.8646:0.1354:0.0:0.0	.	2229	Q13439	GOGA4_HUMAN	V	2229	ENSP00000354486:I2229V	ENSP00000354486:I2229V	I	+	1	0	GOLGA4	37377759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.894000	0.56250	0.971000	0.38288	0.460000	0.39030	ATC		0.353	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		9	60	9	60
CNGB1	1258	broad.mit.edu;ucsc.edu	37	16	57918281	57918281	+	Silent	SNP	G	G	A	rs375919369		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:57918281G>A	ENST00000251102.8	-	33	3603	c.3543C>T	c.(3541-3543)acC>acT	p.T1181T	CNGB1_ENST00000564448.1_Silent_p.T1175T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1181					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CGGGTGGGTCGGTGGCGGCCT	0.716																																					Colon(156;1293 1853 16336 28962 38659)											0								G		0,3816		0,0,1908	15.0	17.0	17.0		3543	-4.9	0.0	16		17	1,8141		0,1,4070	no	coding-synonymous	CNGB1	NM_001297.4		0,1,5978	AA,AG,GG		0.0123,0.0,0.0084		1181/1252	57918281	1,11957	1908	4071	5979	SO:0001819	synonymous_variant	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3543C>T	16.37:g.57918281G>A			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																				0.716	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		7	62	7	62
CRLF2	64109	broad.mit.edu;ucsc.edu	37	X	1317467	1317467	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chrX:1317467G>T	ENST00000381567.3	-	5	597	c.598C>A	c.(598-600)Cca>Aca	p.P200T	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	200	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGTCGCTTGGGTATGTGTCT	0.532			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																		Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	cytokine receptor-like factor 2		L	0													417.0	439.0	431.0					X																	1317467		2109	4210	6319	SO:0001583	missense	64109			AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.598C>A	X.37:g.1317467G>T	ENSP00000370979:p.Pro200Thr		Q9H5R3	Missense_Mutation	SNP	ENST00000381567.3	37		.	.	.	.	.	.	.	.	.	.	g	9.379	1.072425	0.20147	.	.	ENSG00000205755	ENST00000381567;ENST00000400841	T;T	0.68765	-0.35;-0.35	1.88	1.88	0.25563	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.290655	0.30177	U	0.010240	T	0.77068	0.4076	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.66060	-0.6017	9	0.72032	D	0.01	-8.1266	9.4951	0.38984	0.0:0.0:1.0:0.0	.	200	Q9HC73	CRLF2_HUMAN	T	200	ENSP00000370979:P200T;ENSP00000383641:P200T	ENSP00000370979:P200T	P	-	1	0	CRLF2	1277467	0.638000	0.27225	0.033000	0.17914	0.016000	0.09150	2.312000	0.43726	0.744000	0.32741	0.360000	0.22052	CCA		0.532	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		70	111	70	111
ANGPTL3	27329	broad.mit.edu;hgsc.bcm.edu	37	1	63063515	63063517	+	In_Frame_Del	DEL	AAG	AAG	-	rs537365761	byFrequency	TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:63063515_63063517delAAG	ENST00000371129.3	+	1	358_360	c.278_280delAAG	c.(277-282)aaagaa>aaa	p.E96del	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	96					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGTGAAATCAAAGAAGAAGAAAA	0.325														4	0.000798722	0.003	0.0	5008	,	,		18166	0.0		0.0	False		,,,				2504	0.0															0									,	14,4250		7,0,2125					,	4.6	1.0			64	17,8235		7,3,4116	no	intron,coding	ANGPTL3,DOCK7	NM_033407.2,NM_014495.2	,	14,3,6241	A1A1,A1R,RR		0.206,0.3283,0.2477	,	,		31,12485				SO:0001651	inframe_deletion	27329			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.278_280delAAG	1.37:g.63063521_63063523delAAG	ENSP00000360170:p.Glu96del		A0JLS0|B1ALJ0|B2RCW1	In_Frame_Del	DEL	ENST00000371129.3	37	CCDS622.1																																																																																				0.325	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		24	14	24	14
FUBP1	8880	broad.mit.edu;hgsc.bcm.edu	37	1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-	rs369776228		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:78428470_78428471delTA	ENST00000370768.2	-	14	1409_1410	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"""F, N"""		oligodendroglioma																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0																																										SO:0001589	frameshift_variant	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1328_1329delTA	1.37:g.78428470_78428471delTA	ENSP00000359804:p.Ile443fs		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	CCDS683.1																																																																																				0.337	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		30	9	30	9
SCYL3	57147	broad.mit.edu;hgsc.bcm.edu	37	1	169845143	169845146	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:169845143_169845146delACAA	ENST00000367770.1	-	3	485_488	c.438_441delTTGT	c.(436-441)gtttgtfs	p.VC146fs	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000367771.6_Frame_Shift_Del_p.VC146fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAACTTTACAAACAGTTTCCA	0.441																																																0																																										SO:0001589	frameshift_variant	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.438_441delTTGT	1.37:g.169845143_169845146delACAA	ENSP00000356744:p.Val146fs		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Frame_Shift_Del	DEL	ENST00000367770.1	37	CCDS1287.1																																																																																				0.441	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		17	45	17	45
CELSR3	1951	broad.mit.edu;hgsc.bcm.edu	37	3	48699364	48699365	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:48699364_48699365insG	ENST00000164024.4	-	1	983_984	c.703_704insC	c.(703-705)cttfs	p.L235fs	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Frame_Shift_Ins_p.L235fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	235					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCTGGAAGACAGTTCCGC	0.658																																																0																																										SO:0001589	frameshift_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.704dupC	3.37:g.48699365_48699365dupG	ENSP00000164024:p.Leu235fs		O75092	Frame_Shift_Ins	INS	ENST00000164024.4	37	CCDS2775.1																																																																																				0.658	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		69	119	69	119
LAMA2	3908	broad.mit.edu;hgsc.bcm.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438																																																0																																										SO:0001651	inframe_deletion	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6195_6197delGAA	6.37:g.129762076_129762078delGAA	ENSP00000400365:p.Lys2067del		Q14736|Q5VUM2|Q93022	In_Frame_Del	DEL	ENST00000421865.2	37	CCDS5138.1																																																																																				0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			21	41	21	41
C1GALT1	56913	broad.mit.edu;hgsc.bcm.edu	37	7	7278106	7278109	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:7278106_7278109delAATT	ENST00000223122.3	+	2	503_506	c.441_444delAATT	c.(439-444)acaattfs	p.TI147fs	C1GALT1_ENST00000436587.2_Frame_Shift_Del_p.TI147fs|C1GALT1_ENST00000402468.3_Frame_Shift_Del_p.TI147fs			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	147					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ACTGGAAAACAATTAAAGCTTTTC	0.358																																																0																																										SO:0001589	frameshift_variant	56913			AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.441_444delAATT	7.37:g.7278106_7278109delAATT	ENSP00000223122:p.Thr147fs		Q96QH4|Q9BTU1	Frame_Shift_Del	DEL	ENST00000223122.3	37	CCDS5355.1																																																																																				0.358	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		23	55	23	55
GBA2	57704	broad.mit.edu;hgsc.bcm.edu	37	9	35736657	35736660	+	IGR	DEL	AAGG	AAGG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:35736657_35736660delAAGG	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Frame_Shift_Del_p.TR350fs|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAAATCTCACAAGGAAGGGAGGAT	0.583											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0																																										SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736661_35736664delAAGG		857	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Del	DEL	ENST00000378103.3	37	CCDS6589.1																																																																																				0.583	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		65	223	65	223
MEGF9	1955	broad.mit.edu;hgsc.bcm.edu	37	9	123374758	123374760	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:123374758_123374760delCTT	ENST00000373930.3	-	4	1112_1114	c.1001_1003delAAG	c.(1000-1005)gaagga>gga	p.E334del	MEGF9_ENST00000426959.1_In_Frame_Del_p.E371del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	334	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGATAAAATCCTTCTTTACATTC	0.374																																																0																																										SO:0001651	inframe_deletion	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1001_1003delAAG	9.37:g.123374761_123374763delCTT	ENSP00000363040:p.Glu334del		B7Z315|O75098	In_Frame_Del	DEL	ENST00000373930.3	37	CCDS48010.2																																																																																				0.374	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		13	26	13	26
NOTCH1	4851	broad.mit.edu;hgsc.bcm.edu	37	9	139412725	139412727	+	In_Frame_Del	DEL	GTT	GTT	-	rs368588745		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:139412725_139412727delGTT	ENST00000277541.6	-	7	1192_1194	c.1117_1119delAAC	c.(1117-1119)aacdel	p.N373del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	373	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCATGCGTCGTTGAGGTGGCAC	0.67			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0																																										SO:0001651	inframe_deletion	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1117_1119delAAC	9.37:g.139412725_139412727delGTT	ENSP00000277541:p.Asn373del		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	CCDS43905.1																																																																																				0.670	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	23	13	23
KAT6B	23522	broad.mit.edu;hgsc.bcm.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1201					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGAAGAAAAGACAAACAGAGGAAG	0.451																																																0																																										SO:0001589	frameshift_variant	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3603_3606delACAA	10.37:g.76784946_76784949delACAA	ENSP00000287239:p.Arg1201fs		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	CCDS7345.1																																																																																				0.451	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		13	34	13	34
PLEKHB1	58473	broad.mit.edu;hgsc.bcm.edu	37	11	73362876	73362877	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:73362876_73362877delTG	ENST00000354190.5	+	4	722_723	c.291_292delTG	c.(289-294)actgtgfs	p.V98fs	PLEKHB1_ENST00000398492.4_Frame_Shift_Del_p.V98fs|PLEKHB1_ENST00000535129.1_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000543085.1_Frame_Shift_Del_p.V28fs|PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398494.4_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Del_p.V79fs	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						GCCTGCTGACTGTGAACCTACG	0.624																																																0																																										SO:0001589	frameshift_variant	58473			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.291_292delTG	11.37:g.73362878_73362879delTG	ENSP00000346127:p.Val98fs		A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Frame_Shift_Del	DEL	ENST00000354190.5	37	CCDS44672.1																																																																																				0.624	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			22	35	22	35
TCF12	6938	broad.mit.edu;hgsc.bcm.edu	37	15	57484478	57484479	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:57484478_57484479delCT	ENST00000267811.5	+	7	817_818	c.513_514delCT	c.(511-516)gactctfs	p.S172fs	TCF12_ENST00000333725.5_Frame_Shift_Del_p.S172fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S172fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S168fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S172fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	172					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACTCCATGACTCTGCAGCGCT	0.46			T	TEC	extraskeletal myxoid chondrosarcoma																																		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0																																										SO:0001589	frameshift_variant	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.513_514delCT	15.37:g.57484480_57484481delCT	ENSP00000267811:p.Ser172fs		Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	CCDS10159.1																																																																																				0.460	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		40	83	40	83
KCNG4	93107	broad.mit.edu;hgsc.bcm.edu	37	16	84270753	84270755	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270753_84270755delGAA	ENST00000308251.4	-	2	405_407	c.337_339delTTC	c.(337-339)ttcdel	p.F113del	KCNG4_ENST00000568181.1_In_Frame_Del_p.F113del	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	113					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCTCCTGTCGAAGAAGAACTCC	0.626																																																0										2,4262		1,0,2131						5.1	1.0			60	9,8245		4,1,4122	no	coding	KCNG4	NM_172347.2		5,1,6253	A1A1,A1R,RR		0.109,0.0469,0.0879				11,12507				SO:0001651	inframe_deletion	93107			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.337_339delTTC	16.37:g.84270759_84270761delGAA	ENSP00000312129:p.Phe113del		Q96H24	In_Frame_Del	DEL	ENST00000308251.4	37	CCDS10945.1																																																																																				0.626	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		28	72	28	72
C3P1	388503	broad.mit.edu;hgsc.bcm.edu	37	19	10157411	10157413	+	RNA	DEL	GAA	GAA	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:10157411_10157413delGAA	ENST00000495140.1	+	0	1010_1012							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TCCAGCGGATGAAGAAGAGGACT	0.527																																																0																																												388503			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10157414_10157416delGAA				RNA	DEL	ENST00000495140.1	37																																																																																					0.527	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		14	31	14	31
CIC	23152	broad.mit.edu;hgsc.bcm.edu	37	19	42794910	42794911	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:42794910_42794911delCT	ENST00000575354.2	+	10	2030_2031	c.1990_1991delCT	c.(1990-1992)ctgfs	p.L664fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.L1573fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L664fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	664	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAGCTCCCCTGTCCCGTCCT	0.688			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1990_1991delCT	19.37:g.42794910_42794911delCT	ENSP00000458663:p.Leu664fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	CCDS12601.1																																																																																				0.688	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			17	9	17	9
