#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
CALML3	810	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	5567140	5567140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:5567140G>A	ENST00000315238.1	+	1	217	c.92G>A	c.(91-93)cGc>cAc	p.R31H	CALML3-AS1_ENST00000543008.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	31	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						ATCACCACCCGCGAGCTGGGC	0.647																																					Colon(173;2070 2647 27580 52203)											0													65.0	53.0	57.0					10																	5567140		2203	4300	6503	SO:0001583	missense	810			X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"""EF-hand domain containing"""	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.92G>A	10.37:g.5567140G>A	ENSP00000315299:p.Arg31His		B2R9V6|Q5SQI4	Missense_Mutation	SNP	ENST00000315238.1	37	CCDS7069.1	.	.	.	.	.	.	.	.	.	.	G	6.380	0.438267	0.12104	.	.	ENSG00000178363	ENST00000315238	D	0.84660	-1.88	5.08	-3.77	0.04346	EF-hand-like domain (1);	0.914184	0.09043	N	0.857058	T	0.71771	0.3379	N	0.16201	0.385	0.25745	N	0.985111	B	0.06786	0.001	B	0.01281	0.0	T	0.58261	-0.7667	10	0.87932	D	0	-16.6004	11.3678	0.49681	0.8391:0.0:0.1609:0.0	.	31	P27482	CALL3_HUMAN	H	31	ENSP00000315299:R31H	ENSP00000315299:R31H	R	+	2	0	CALML3	5557140	0.867000	0.29959	0.789000	0.31954	0.017000	0.09413	0.554000	0.23407	-0.622000	0.05626	-1.058000	0.02302	CGC		0.647	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046555.1	NM_005185		18	23	18	23
TRDMT1	1787	hgsc.bcm.edu;broad.mit.edu	37	10	17204201	17204201	+	Missense_Mutation	SNP	G	G	C	rs143074583		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:17204201G>C	ENST00000377799.3	-	4	334	c.287C>G	c.(286-288)aCg>aGg	p.T96R	TRDMT1_ENST00000457442.2_Missense_Mutation_p.T37R|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000351358.4_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	96	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GAAGCTATTCGTCCTTGAATC	0.343																																																0													119.0	126.0	124.0					10																	17204201		2203	4300	6503	SO:0001583	missense	1787			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.287C>G	10.37:g.17204201G>C	ENSP00000367030:p.Thr96Arg		B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	ENST00000377799.3	37	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642967	0.87859	.	.	ENSG00000107614	ENST00000377799;ENST00000457442	T;T	0.40476	1.03;1.03	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.983	D;D;D	0.68353	0.957;0.944;0.928	T	0.65014	-0.6271	10	0.62326	D	0.03	-16.982	20.6593	0.99626	0.0:0.0:1.0:0.0	.	25;37;96	B7Z1Y7;E7EMI8;O14717	.;.;TRDMT_HUMAN	R	96;37	ENSP00000367030:T96R;ENSP00000412256:T37R	ENSP00000367030:T96R	T	-	2	0	TRDMT1	17244207	1.000000	0.71417	0.972000	0.41901	0.707000	0.40811	6.899000	0.75682	2.885000	0.99019	0.655000	0.94253	ACG		0.343	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		37	39	37	39
CTNNA3	29119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	68040315	68040315	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:68040315A>C	ENST00000433211.2	-	13	1971	c.1797T>G	c.(1795-1797)aaT>aaG	p.N599K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.N599K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATCCAACACATTCAATGAGC	0.338																																																0													148.0	141.0	143.0					10																	68040315		2203	4299	6502	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1797T>G	10.37:g.68040315A>C	ENSP00000389714:p.Asn599Lys			Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	A	7.525	0.657444	0.14645	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.28069	1.63;1.63	5.54	1.4	0.22301	.	0.499372	0.18335	N	0.144371	T	0.04452	0.0122	N	0.00077	-2.24	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.18335	-1.0340	10	0.08179	T	0.78	-5.3396	3.8862	0.09099	0.643:0.0:0.1951:0.1619	.	599	Q9UI47	CTNA3_HUMAN	K	599	ENSP00000389714:N599K;ENSP00000362849:N599K	ENSP00000362849:N599K	N	-	3	2	CTNNA3	67710321	0.457000	0.25752	0.997000	0.53966	0.944000	0.59088	0.223000	0.17719	0.367000	0.24454	0.533000	0.62120	AAT		0.338	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		24	23	24	23
OR8J3	81168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	55904472	55904472	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:55904472G>A	ENST00000301529.1	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATGCGAAGCGCAGGTGGAAA	0.388																																																0													115.0	107.0	110.0					11																	55904472		2201	4296	6497	SO:0001819	synonymous_variant	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.723C>T	11.37:g.55904472G>A			Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	CCDS31520.1																																																																																				0.388	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		25	39	25	39
CD163L1	283316	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7527057	7527057	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:7527057G>A	ENST00000313599.3	-	13	3447	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	CD163L1_ENST00000396630.1_Silent_p.D1130D|CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Silent_p.D1140D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1130	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACCCCTGCGTCCTCCTTGT	0.567																																																0													98.0	84.0	89.0					12																	7527057		2203	4300	6503	SO:0001819	synonymous_variant	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3390C>T	12.37:g.7527057G>A			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	CCDS8577.1																																																																																				0.567	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		44	84	44	84
KERA	11081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	91449551	91449551	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:91449551G>T	ENST00000266719.3	-	2	755	c.508C>A	c.(508-510)Ctt>Att	p.L170I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	170					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTCAAGAAGGGTCAGGTTC	0.403																																																0													117.0	112.0	114.0					12																	91449551		2203	4299	6502	SO:0001583	missense	11081			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.508C>A	12.37:g.91449551G>T	ENSP00000266719:p.Leu170Ile			Missense_Mutation	SNP	ENST00000266719.3	37	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770112	0.69992	.	.	ENSG00000139330	ENST00000266719	T	0.57436	0.4	6.08	5.19	0.71726	.	0.056051	0.64402	D	0.000001	T	0.51941	0.1704	N	0.21282	0.65	0.51233	D	0.999914	D	0.55385	0.971	D	0.64506	0.926	T	0.48603	-0.9021	10	0.22706	T	0.39	-21.1588	8.2402	0.31656	0.0719:0.0:0.5833:0.3448	.	170	O60938	KERA_HUMAN	I	170	ENSP00000266719:L170I	ENSP00000266719:L170I	L	-	1	0	KERA	89973682	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.450000	0.52957	1.582000	0.49881	0.655000	0.94253	CTT		0.403	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		49	110	49	110
FAM71C	196472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	100043170	100043170	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:100043170G>A	ENST00000324341.1	+	2	1142	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATACAATAGAGATATGAATCC	0.413																																																0													131.0	132.0	131.0					12																	100043170		2203	4300	6503	SO:0001819	synonymous_variant	196472				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.720G>A	12.37:g.100043170G>A			B2R6Y6	Silent	SNP	ENST00000324341.1	37	CCDS9072.1																																																																																				0.413	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		32	64	32	64
HSPA2	3306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	65007730	65007730	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr14:65007730G>A	ENST00000394709.1	+	2	239	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	HSPA2_ENST00000247207.6_Missense_Mutation_p.A55T|RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_Intron			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCGGCGACGCCGCCAAGAA	0.597																																					Pancreas(136;1211 1835 24894 31984 38227)											0													99.0	73.0	82.0					14																	65007730		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.163G>A	14.37:g.65007730G>A	ENSP00000378199:p.Ala55Thr		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733828	0.89482	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01076	5.37;5.37	5.38	5.38	0.77491	.	0.000000	0.53938	U	0.000049	T	0.08403	0.0209	M	0.93808	3.46	0.58432	D	0.999999	D	0.61080	0.989	P	0.53450	0.726	T	0.02031	-1.1226	10	0.87932	D	0	-6.5289	19.1451	0.93461	0.0:0.0:1.0:0.0	.	55	P54652	HSP72_HUMAN	T	55	ENSP00000378199:A55T;ENSP00000247207:A55T	ENSP00000247207:A55T	A	+	1	0	HSPA2	64077483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.828000	0.99408	2.517000	0.84864	0.563000	0.77884	GCC		0.597	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			25	74	25	74
TGM5	9333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	43545044	43545044	+	Missense_Mutation	SNP	C	C	G	rs201451548	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:43545044C>G	ENST00000220420.5	-	6	782	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	TGM5_ENST00000349114.4_Missense_Mutation_p.V177L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	259					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGATGGCCACGCTGCCCGTC	0.567																																																0													83.0	75.0	77.0					15																	43545044		2202	4299	6501	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.775G>C	15.37:g.43545044C>G	ENSP00000220420:p.Val259Leu		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080153	0.76528	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.86366	-2.11;-2.11	4.64	4.64	0.57946	.	0.239522	0.35585	N	0.003117	D	0.92753	0.7696	M	0.85542	2.76	0.28502	N	0.913962	D;D	0.76494	0.974;0.999	P;D	0.75484	0.834;0.986	D	0.87590	0.2490	10	0.72032	D	0.01	-16.8399	9.0957	0.36638	0.0:0.898:0.0:0.102	.	177;259	O43548-2;O43548	.;TGM5_HUMAN	L	259;177;258	ENSP00000220420:V259L;ENSP00000220419:V177L	ENSP00000220420:V259L	V	-	1	0	TGM5	41332336	0.341000	0.24801	0.997000	0.53966	0.826000	0.46750	2.982000	0.49337	2.281000	0.76405	0.561000	0.74099	GTG		0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		46	94	46	94
ACSBG1	23205	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	78466000	78466000	+	Missense_Mutation	SNP	C	C	T	rs548841663		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:78466000C>T	ENST00000258873.4	-	13	2229	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433Q|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18659	0.0		0.0	False		,,,				2504	0.001															0													84.0	71.0	75.0					15																	78466000		2196	4293	6489	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.2024G>A	15.37:g.78466000C>T	ENSP00000258873:p.Arg675Gln		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390704	0.42410	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10382	2.88;2.88	5.25	1.08	0.20341	.	0.456816	0.19804	N	0.105682	T	0.09642	0.0237	L	0.48260	1.515	0.28926	N	0.891863	B;B	0.10296	0.003;0.003	B;B	0.15870	0.004;0.014	T	0.14727	-1.0462	10	0.38643	T	0.18	-9.3566	8.8596	0.35249	0.0:0.6033:0.0:0.3967	.	671;675	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	Q	675;433	ENSP00000258873:R675Q;ENSP00000439955:R433Q	ENSP00000258873:R675Q	R	-	2	0	ACSBG1	76253055	0.760000	0.28428	0.549000	0.28204	0.507000	0.33981	1.231000	0.32624	0.381000	0.24851	0.591000	0.81541	CGG		0.562	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		34	54	34	54
LAT	27040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	28996764	28996764	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:28996764G>A	ENST00000360872.5	+	1	104	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	LAT_ENST00000354453.4_Missense_Mutation_p.C9Y|LAT_ENST00000454369.2_Missense_Mutation_p.C9Y|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395456.2_Missense_Mutation_p.C9Y|LAT_ENST00000566177.1_Missense_Mutation_p.C9Y|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000395461.3_Missense_Mutation_p.C45Y|LAT_ENST00000564277.1_Missense_Mutation_p.C9Y			O43561	LAT_HUMAN	linker for activation of T cells	9					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTGGTCCCCTGCGTGCTGGGG	0.642																																																0													64.0	55.0	58.0					16																	28996764		2197	4300	6497	SO:0001583	missense	27040			AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.26G>A	16.37:g.28996764G>A	ENSP00000354119:p.Cys9Tyr		B7WPI0|C7C5T6|G5E9K3|O43919	Missense_Mutation	SNP	ENST00000360872.5	37	CCDS10647.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550497	0.45383	.	.	ENSG00000213658	ENST00000395461;ENST00000395456;ENST00000454369;ENST00000360872;ENST00000354453	.	.	.	3.46	-6.91	0.01649	.	.	.	.	.	T	0.08358	0.0208	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26224	-1.0109	8	0.87932	D	0	5.3027	0.3229	0.00306	0.2299:0.1675:0.2524:0.3502	.	9;9;45;9;9	C7C5T6;O43561-2;B7WPI0;O43561;G5E9K3	.;.;.;LAT_HUMAN;.	Y	45;9;9;9;9	.	ENSP00000346441:C9Y	C	+	2	0	LAT	28904265	0.000000	0.05858	0.000000	0.03702	0.280000	0.26924	-2.924000	0.00692	-1.762000	0.01308	0.462000	0.41574	TGC		0.642	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			30	67	30	67
MED13	9969	hgsc.bcm.edu;broad.mit.edu	37	17	60111221	60111221	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:60111221C>T	ENST00000397786.2	-	5	817	c.741G>A	c.(739-741)aaG>aaA	p.K247K	MED13_ENST00000580896.1_5'Flank|Y_RNA_ENST00000363972.1_RNA	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	247					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGACATCTCCTTCAAGCAAC	0.383																																																0													155.0	139.0	144.0					17																	60111221		1869	4107	5976	SO:0001819	synonymous_variant	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.741G>A	17.37:g.60111221C>T			B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	CCDS42366.1																																																																																				0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		6	57	6	57
SETBP1	26040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	42532027	42532027	+	Missense_Mutation	SNP	G	G	A	rs559186877		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:42532027G>A	ENST00000282030.5	+	4	3018	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	908			D -> N (in myeloid malignancies). {ECO:0000269|PubMed:23628959}.			nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CATTCCGTCCGACACCAGCAC	0.532									Schinzel-Giedion syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18813	0.0		0.0	False		,,,				2504	0.001															0													40.0	35.0	37.0					18																	42532027		2203	4300	6503	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2722G>A	18.37:g.42532027G>A	ENSP00000282030:p.Asp908Asn		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105677	0.77096	.	.	ENSG00000152217	ENST00000282030	D	0.89875	-2.58	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	N	0.14661	0.345	0.50813	D	0.999891	D	0.89917	1.0	D	0.68621	0.959	D	0.90107	0.4189	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	908	Q9Y6X0	SETBP_HUMAN	N	908	ENSP00000282030:D908N	ENSP00000282030:D908N	D	+	1	0	SETBP1	40786025	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.400000	0.97290	2.941000	0.99782	0.655000	0.94253	GAC		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		18	34	18	34
SALL3	27164	hgsc.bcm.edu;broad.mit.edu	37	18	76752248	76752248	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:76752248C>T	ENST00000537592.2	+	2	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SALL3_ENST00000575389.2_Missense_Mutation_p.A86V|SALL3_ENST00000536229.3_5'UTR	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	86					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGAGGACGCGCCCGCGCCG	0.726																																																0													19.0	21.0	21.0					18																	76752248		2189	4293	6482	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.257C>T	18.37:g.76752248C>T	ENSP00000441823:p.Ala86Val		Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120540	0.20877	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08634	3.07	4.52	0.311	0.15831	.	0.238521	0.28219	N	0.016149	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45716	-0.9242	10	0.31617	T	0.26	-31.1755	7.7856	0.29091	0.4338:0.4355:0.0:0.1306	.	86	Q9BXA9	SALL3_HUMAN	V	86	ENSP00000441823:A86V	ENSP00000299466:A86V	A	+	2	0	SALL3	74853236	1.000000	0.71417	0.995000	0.50966	0.089000	0.18198	1.202000	0.32271	0.204000	0.20548	-0.397000	0.06425	GCG		0.726	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		11	20	11	20
HCN2	610	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	613254	613254	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:613254G>A	ENST00000251287.2	+	6	1644	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	531					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGAGATCGTCAACTTCAA	0.672																																					Melanoma(145;1175 2427 8056 36306)											0													36.0	32.0	34.0					19																	613254		2201	4297	6498	SO:0001583	missense	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1591G>A	19.37:g.613254G>A	ENSP00000251287:p.Val531Ile		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	6.501	0.460576	0.12342	.	.	ENSG00000099822	ENST00000251287	D	0.96427	-4.01	3.84	3.84	0.44239	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.89670	0.6782	N	0.12182	0.205	0.54753	D	0.99998	B	0.15473	0.013	B	0.09377	0.004	D	0.85087	0.0949	9	0.06625	T	0.88	.	15.1013	0.72279	0.0:0.0:1.0:0.0	.	531	Q9UL51	HCN2_HUMAN	I	531	ENSP00000251287:V531I	ENSP00000251287:V531I	V	+	1	0	HCN2	564254	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	3.931000	0.56529	1.860000	0.53959	0.493000	0.49557	GTC		0.672	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		17	36	17	36
KIAA1683	80726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	18377437	18377437	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:18377437C>T	ENST00000600328.3	-	3	1106	c.913G>A	c.(913-915)Gca>Aca	p.A305T	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A259T|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A305T			Q9H0B3	K1683_HUMAN	KIAA1683	305						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCGTAACTGCCTGGTCATAC	0.567																																																0													123.0	130.0	128.0					19																	18377437		2203	4300	6503	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.913G>A	19.37:g.18377437C>T	ENSP00000470780:p.Ala305Thr		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401113	0.42613	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.04970	3.63;3.6;3.52	3.06	0.586	0.17434	.	0.944627	0.08652	N	0.913859	T	0.04227	0.0117	L	0.34521	1.04	0.09310	N	1	P;B	0.37330	0.59;0.107	B;B	0.31191	0.125;0.032	T	0.40175	-0.9577	10	0.41790	T	0.15	-4.6607	2.8455	0.05541	0.2605:0.5643:0.0:0.1752	.	305;305	E9PDE0;Q9H0B3	.;K1683_HUMAN	T	305;305;259;304	ENSP00000376213:A305T;ENSP00000352774:A305T;ENSP00000404501:A259T	ENSP00000351198:A304T	A	-	1	0	KIAA1683	18238437	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.098000	0.11024	0.213000	0.20722	0.467000	0.42956	GCA		0.567	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			44	160	44	160
CSMD2	114784	hgsc.bcm.edu;broad.mit.edu	37	1	34258115	34258115	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:34258115C>T	ENST00000338325.1	-	5	695	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	CSMD2_ENST00000373381.4_Missense_Mutation_p.A487T			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	447	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCAAAGGCGAGCTTGATC	0.532																																																0													129.0	109.0	116.0					1																	34258115		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.283G>A	1.37:g.34258115C>T	ENSP00000340311:p.Ala95Thr		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37		.	.	.	.	.	.	.	.	.	.	C	13.25	2.182574	0.38511	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.17370	2.28;2.28	5.06	4.03	0.46877	CUB (5);	0.057550	0.64402	D	0.000002	T	0.04048	0.0113	N	0.00823	-1.155	0.80722	D	1	B;B	0.18166	0.026;0.007	B;B	0.23150	0.044;0.01	T	0.37572	-0.9700	10	0.11182	T	0.66	.	4.5584	0.12149	0.0:0.7256:0.0:0.2744	.	447;487	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	487;95	ENSP00000362479:A487T;ENSP00000340311:A95T	ENSP00000241312:A447T	A	-	1	0	CSMD2	34030702	1.000000	0.71417	0.993000	0.49108	0.916000	0.54674	5.872000	0.69636	2.368000	0.80403	0.467000	0.42956	GCC		0.532	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		5	76	5	76
CCDC30	728621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	43110444	43110444	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:43110444G>A	ENST00000340612.4	+	12	1856	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CCDC30_ENST00000507855.1_Missense_Mutation_p.R408Q|CCDC30_ENST00000390640.4_Missense_Mutation_p.R408Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R619Q|CCDC30_ENST00000428554.2_Missense_Mutation_p.R619Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	619						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCTTAGAGCGAATTATAAGG	0.428																																																0													122.0	106.0	112.0					1																	43110444		2203	4300	6503	SO:0001583	missense	728621			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1856G>A	1.37:g.43110444G>A	ENSP00000340378:p.Arg619Gln		Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049062	0.36181	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.5	1.53	0.23141	.	0.517808	0.19144	N	0.121626	T	0.22859	0.0552	L	0.36672	1.1	0.09310	N	1	P;P	0.48350	0.795;0.909	B;B	0.33454	0.117;0.164	T	0.15954	-1.0419	10	0.24483	T	0.36	.	7.4196	0.27065	0.36:0.0:0.64:0.0	.	619;408	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	Q	619;408;619;619;408	ENSP00000397035:R619Q;ENSP00000426711:R408Q;ENSP00000340378:R619Q;ENSP00000339280:R619Q;ENSP00000375051:R408Q	ENSP00000340378:R619Q	R	+	2	0	CCDC30	42883031	0.526000	0.26298	0.003000	0.11579	0.896000	0.52359	0.589000	0.23939	0.094000	0.17404	0.655000	0.94253	CGA		0.428	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		26	57	26	57
GPBP1L1	60313	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	46120391	46120391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:46120391G>A	ENST00000290795.3	-	5	1522	c.301C>T	c.(301-303)Cga>Tga	p.R101*	GPBP1L1_ENST00000355105.3_Nonsense_Mutation_p.R101*			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	101					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCATGACCTCGGGAAGAGCTA	0.557																																																0													85.0	76.0	79.0					1																	46120391		2203	4300	6503	SO:0001587	stop_gained	60313				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.301C>T	1.37:g.46120391G>A	ENSP00000290795:p.Arg101*		D3DQ10|Q9H751	Nonsense_Mutation	SNP	ENST00000290795.3	37	CCDS528.1	.	.	.	.	.	.	.	.	.	.	G	48	14.233875	0.99785	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	.	.	.	5.95	4.03	0.46877	.	0.057315	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.4507	15.2662	0.73663	0.0:0.0:0.7434:0.2565	.	.	.	.	X	101	.	ENSP00000290795:R101X	R	-	1	2	GPBP1L1	45892978	1.000000	0.71417	0.741000	0.31004	0.896000	0.52359	5.858000	0.69532	0.805000	0.34159	0.655000	0.94253	CGA		0.557	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		26	35	26	35
ERICH3	127254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	75038487	75038487	+	Silent	SNP	A	A	C			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:75038487A>C	ENST00000326665.5	-	14	3125	c.2907T>G	c.(2905-2907)ggT>ggG	p.G969G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		969	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCTTCAGAACCGTCCTCTC	0.522																																																0													140.0	130.0	133.0					1																	75038487		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000326665.5:c.2907T>G	1.37:g.75038487A>C			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	CCDS30755.1																																																																																				0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			48	82	48	82
ELTD1	64123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	79470885	79470885	+	Silent	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:79470885C>T	ENST00000370742.3	-	2	105	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	14					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGAACAATTCAACAAAGTGG	0.333																																																0													71.0	61.0	64.0					1																	79470885		1813	4079	5892	SO:0001819	synonymous_variant	64123			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.42G>A	1.37:g.79470885C>T			B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	CCDS41352.1																																																																																				0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		12	25	12	25
OTUD7B	56957	hgsc.bcm.edu;broad.mit.edu	37	1	149916850	149916850	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:149916850C>T	ENST00000369135.4	-	12	1732	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	480					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CGGCCGCCCTCGTTGCTGGTG	0.582																																																0													130.0	134.0	133.0					1																	149916850		2088	4219	6307	SO:0001583	missense	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1438G>A	1.37:g.149916850C>T	ENSP00000358131:p.Glu480Lys		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	3.457	-0.110775	0.06924	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.29655	1.56	4.99	4.99	0.66335	.	0.139866	0.64402	D	0.000007	T	0.08313	0.0207	N	0.08118	0	0.47037	D	0.999292	B	0.24882	0.113	B	0.22880	0.042	T	0.13469	-1.0508	9	.	.	.	-4.5667	17.451	0.87592	0.0:1.0:0.0:0.0	.	480	Q6GQQ9	OTU7B_HUMAN	K	480	ENSP00000358131:E480K	.	E	-	1	0	OTUD7B	148183474	0.268000	0.24133	0.998000	0.56505	0.343000	0.28985	1.432000	0.34936	2.600000	0.87896	0.557000	0.71058	GAG		0.582	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		9	173	9	173
FLG	2312	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	152282387	152282387	+	Missense_Mutation	SNP	C	C	T	rs201990594		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:152282387C>T	ENST00000368799.1	-	3	5010	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1659	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCATGACGA	0.562									Ichthyosis																																							0													301.0	302.0	301.0					1																	152282387		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4975G>A	1.37:g.152282387C>T	ENSP00000357789:p.Glu1659Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	7.667	0.686130	0.14973	.	.	ENSG00000143631	ENST00000368799	T	0.00856	5.61	2.32	-3.57	0.04612	.	.	.	.	.	T	0.00524	0.0017	M	0.67953	2.075	0.09310	N	1	P	0.46656	0.882	P	0.46796	0.527	T	0.30822	-0.9965	9	0.06625	T	0.88	.	10.6039	0.45384	0.0:0.274:0.726:0.0	.	1659	P20930	FILA_HUMAN	K	1659	ENSP00000357789:E1659K	ENSP00000357789:E1659K	E	-	1	0	FLG	150549011	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.085000	0.03390	-0.560000	0.06102	0.306000	0.20318	GAG		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		182	349	182	349
OBSCN	84033	hgsc.bcm.edu;ucsc.edu	37	1	228548163	228548163	+	Intron	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:228548163C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R3643*|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R6524*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGGGTCCCCGAGGCCCTCT	0.687																																																0													16.0	20.0	19.0					1																	228548163		1953	4134	6087	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2114C>T	1.37:g.228548163C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	63	79.281198	0.99993	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	.	.	.	4.06	-2.25	0.06888	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	2.8309	0.05499	0.4633:0.1638:0.2797:0.0932	.	.	.	.	X	6524;3643	.	ENSP00000284548:R6524X	R	+	1	2	OBSCN	226614786	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.056000	0.11787	-0.210000	0.10140	0.591000	0.81541	CGA		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		18	29	18	29
MYH7B	57644	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	33568534	33568534	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr20:33568534C>T	ENST00000262873.7	+	6	714	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	166	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACATGCTGCGCAGTAAGGG	0.652																																																0													46.0	52.0	50.0					20																	33568534		2071	4196	6267	SO:0001583	missense	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.622C>T	20.37:g.33568534C>T	ENSP00000262873:p.Arg208Cys		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901490	0.92035	.	.	ENSG00000078814	ENST00000262873	D	0.88277	-2.36	4.46	4.46	0.54185	Myosin head, motor domain (2);	0.000000	0.38164	N	0.001796	D	0.95284	0.8470	H	0.96518	3.835	0.58432	D	0.999999	D	0.71674	0.998	P	0.54965	0.765	D	0.96907	0.9664	10	0.72032	D	0.01	.	17.6559	0.88177	0.0:1.0:0.0:0.0	.	166	A7E2Y1	MYH7B_HUMAN	C	208	ENSP00000262873:R208C	ENSP00000262873:R208C	R	+	1	0	MYH7B	33032195	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.755000	0.55197	2.472000	0.83506	0.655000	0.94253	CGC		0.652	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		44	93	44	93
SCAF4	57466	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	33044602	33044602	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr21:33044602C>T	ENST00000286835.7	-	20	2936	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	SCAF4_ENST00000434667.3_Missense_Mutation_p.A837T|SCAF4_ENST00000399804.1_Missense_Mutation_p.A830T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	852						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCGGGCCGGGCGCCAAGAAGA	0.562																																																0													40.0	44.0	43.0					21																	33044602		2202	4298	6500	SO:0001583	missense	57466			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2554G>A	21.37:g.33044602C>T	ENSP00000286835:p.Ala852Thr		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545734	0.45280	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.51325	0.84;0.83;0.71	5.13	4.25	0.50352	.	0.098933	0.44688	N	0.000435	T	0.24470	0.0593	N	0.14661	0.345	0.58432	D	0.999994	P;P;P	0.40515	0.597;0.719;0.597	B;B;B	0.26310	0.031;0.068;0.031	T	0.06232	-1.0838	10	0.21540	T	0.41	-8.7758	13.7443	0.62865	0.0:0.9261:0.0:0.0739	.	837;830;852	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	T	837;852;830	ENSP00000402377:A837T;ENSP00000286835:A852T;ENSP00000382703:A830T	ENSP00000286835:A852T	A	-	1	0	SCAF4	31966473	1.000000	0.71417	0.853000	0.33588	0.986000	0.74619	5.083000	0.64456	1.396000	0.46663	0.555000	0.69702	GCC		0.562	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		34	68	34	68
SYN3	8224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	32937651	32937651	+	Missense_Mutation	SNP	C	C	T	rs141167959		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:32937651C>T	ENST00000358763.2	-	8	1065	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SYN3_ENST00000332840.5_Missense_Mutation_p.A275T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	275	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCATGGCGACCACGCTG	0.542																																																0								C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	217.0	159.0	179.0		820,823,823	5.7	1.0	22	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	274/580,275/581,275/445	32937651	1,13005	2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.823G>A	22.37:g.32937651C>T	ENSP00000351614:p.Ala275Thr		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886504	0.91814	0.0	1.16E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.36157	1.27;1.27	5.72	5.72	0.89469	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.73864	-0.3848	10	0.72032	D	0.01	-6.5177	19.88	0.96892	0.0:1.0:0.0:0.0	.	274;275;275	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	T	275	ENSP00000351614:A275T;ENSP00000330219:A275T	ENSP00000330219:A275T	A	-	1	0	SYN3	31267651	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.708000	0.92522	0.561000	0.74099	GCC		0.542	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			15	29	15	29
TMPRSS6	164656	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	37471260	37471260	+	Silent	SNP	G	G	A	rs572632950	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:37471260G>A	ENST00000346753.3	-	11	1400	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	TMPRSS6_ENST00000381792.2_Silent_p.A419A|TMPRSS6_ENST00000406856.1_Silent_p.A419A|TMPRSS6_ENST00000406725.1_Silent_p.A419A	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	428	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGTGATCCCGGCCGTGGCCA	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17604	0.0		0.0	False		,,,				2504	0.001															0													61.0	64.0	63.0					22																	37471260		2203	4300	6503	SO:0001819	synonymous_variant	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1284C>T	22.37:g.37471260G>A			B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	ENST00000346753.3	37	CCDS13941.1																																																																																				0.652	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		55	89	55	89
HADHA	3030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	26457128	26457128	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:26457128A>G	ENST00000380649.3	-	5	539	c.410T>C	c.(409-411)aTt>aCt	p.I137T	HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Missense_Mutation_p.I50T	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	137					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGCCACAATAGGCTTTGT	0.443																																																0													122.0	112.0	115.0					2																	26457128		2203	4300	6503	SO:0001583	missense	3030			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.410T>C	2.37:g.26457128A>G	ENSP00000370023:p.Ile137Thr		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260284	0.80246	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.68181	-0.31;-0.31	5.81	5.81	0.92471	Crotonase, core (1);	0.297133	0.40222	N	0.001144	T	0.61664	0.2365	L	0.35793	1.09	0.50467	D	0.999876	B;P;P	0.36909	0.002;0.573;0.573	B;B;B	0.41813	0.064;0.367;0.367	T	0.60332	-0.7284	10	0.32370	T	0.25	-6.7002	14.1229	0.65201	1.0:0.0:0.0:0.0	.	50;137;137	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	T	137;50	ENSP00000370023:I137T;ENSP00000405344:I50T	ENSP00000370023:I137T	I	-	2	0	HADHA	26310632	1.000000	0.71417	0.819000	0.32651	0.925000	0.55904	8.474000	0.90413	2.225000	0.72522	0.533000	0.62120	ATT		0.443	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		21	44	21	44
MYEOV2	150678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	241073371	241073371	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:241073371C>T	ENST00000607357.1	-	2	133	c.115G>A	c.(115-117)Gtt>Att	p.V39I	MYEOV2_ENST00000307266.3_Missense_Mutation_p.V70I|MYEOV2_ENST00000489698.1_5'UTR	NM_001163424.1	NP_001156896.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	39								p.V70F(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483																																																1	Substitution - Missense(1)	lung(1)											127.0	130.0	129.0					2																	241073371		2203	4300	6503	SO:0001583	missense	150678			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000607357.1:c.115G>A	2.37:g.241073371C>T	ENSP00000475979:p.Val39Ile		Q8N110	Missense_Mutation	SNP	ENST00000607357.1	37		.	.	.	.	.	.	.	.	.	.	C	21.5	4.157287	0.78114	.	.	ENSG00000172428	ENST00000307266;ENST00000403160	.	.	.	4.55	3.67	0.42095	.	0.000000	0.64402	U	0.000001	T	0.70491	0.3230	.	.	.	0.58432	D	0.999997	B;D	0.67145	0.013;0.996	B;P	0.61874	0.008;0.895	T	0.73142	-0.4076	8	0.72032	D	0.01	-4.0557	10.5952	0.45333	0.0:0.9036:0.0:0.0963	.	39;70	Q8WXC6;Q8WXC6-1	MYOV2_HUMAN;.	I	70;60	.	ENSP00000304147:V70I	V	-	1	0	MYEOV2	240722044	1.000000	0.71417	0.472000	0.27241	0.971000	0.66376	6.092000	0.71414	1.042000	0.40150	0.650000	0.86243	GTT		0.483	MYEOV2-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470698.1	NM_138336		36	99	36	99
LMCD1	29995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	8590552	8590552	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:8590552A>G	ENST00000157600.3	+	4	918	c.686A>G	c.(685-687)aAc>aGc	p.N229S	LMCD1_ENST00000454244.1_Missense_Mutation_p.N156S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.N229S|LMCD1_ENST00000397386.3_Missense_Mutation_p.N117S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	229					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTACCACCAACGGCAGTCTC	0.612																																																0													37.0	27.0	31.0					3																	8590552		2203	4300	6503	SO:0001583	missense	29995			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.686A>G	3.37:g.8590552A>G	ENSP00000157600:p.Asn229Ser		B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908257	0.33721	.	.	ENSG00000071282	ENST00000157600;ENST00000535732;ENST00000454244;ENST00000397386;ENST00000426878	T;T;T;T;T	0.77358	0.84;-1.09;0.84;0.83;-1.08	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	T	0.80154	0.4571	L	0.32530	0.975	0.49051	D	0.999745	D;B;D	0.67145	0.996;0.23;0.991	D;B;P	0.73380	0.98;0.032;0.787	T	0.75808	-0.3187	10	0.16896	T	0.51	-45.2784	13.231	0.59943	1.0:0.0:0.0:0.0	.	229;117;229	F5GX84;B4DEY6;Q9NZU5	.;.;LMCD1_HUMAN	S	229;229;156;117;186	ENSP00000157600:N229S;ENSP00000441100:N229S;ENSP00000396515:N156S;ENSP00000380542:N117S;ENSP00000411222:N186S	ENSP00000157600:N229S	N	+	2	0	LMCD1	8565552	1.000000	0.71417	0.989000	0.46669	0.029000	0.11900	6.837000	0.75354	2.147000	0.66899	0.533000	0.62120	AAC		0.612	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		17	30	17	30
SCN5A	6331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	38674720	38674720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:38674720G>A	ENST00000333535.4	-	2	228	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	SCN5A_ENST00000414099.2_Missense_Mutation_p.R27C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R27C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R27C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R27C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R27C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R27C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R27C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R27C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R27C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	27			R -> H (in BRGDA1). {ECO:0000269|PubMed:11901046}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTGCCATGCGCTTCTCGATG	0.647																																																0													35.0	38.0	37.0					3																	38674720		2016	4161	6177	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.79C>T	3.37:g.38674720G>A	ENSP00000328968:p.Arg27Cys		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158330	0.78114	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000327956	D;D;D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	4.55	4.55	0.56014	.	0.059558	0.64402	D	0.000003	D	0.91761	0.7394	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;1.0	P;P;P;P;D;P	0.67103	0.765;0.732;0.828;0.791;0.949;0.897	D	0.93452	0.6803	10	0.87932	D	0	.	17.4987	0.87725	0.0:0.0:1.0:0.0	.	27;27;27;27;27;27	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	C	27	ENSP00000398962:R27C;ENSP00000398266:R27C;ENSP00000410257:R27C;ENSP00000388797:R27C;ENSP00000397915:R27C;ENSP00000416634:R27C;ENSP00000328968:R27C;ENSP00000399524:R27C;ENSP00000403355:R27C;ENSP00000413996:R27C;ENSP00000333674:R27C	ENSP00000333674:R27C	R	-	1	0	SCN5A	38649724	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.593000	0.82686	2.349000	0.79799	0.491000	0.48974	CGC		0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		19	45	19	45
COL7A1	1294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	48629342	48629342	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:48629342C>T	ENST00000328333.8	-	10	1453	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R449Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	449	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCTCACGCCGCCATTCCAA	0.632																																																0													64.0	73.0	70.0					3																	48629342		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1346G>A	3.37:g.48629342C>T	ENSP00000332371:p.Arg449Gln		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791825	0.31685	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57436	0.4;0.4	4.44	-0.675	0.11364	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.739382	0.11130	N	0.596433	T	0.44222	0.1283	L	0.55990	1.75	0.26835	N	0.968503	B	0.13145	0.007	B	0.11329	0.006	T	0.38693	-0.9649	10	0.42905	T	0.14	.	8.359	0.32348	0.0:0.3563:0.0:0.6437	.	449	Q02388	CO7A1_HUMAN	Q	449	ENSP00000332371:R449Q;ENSP00000412569:R449Q	ENSP00000332371:R449Q	R	-	2	0	COL7A1	48604346	0.070000	0.21116	0.994000	0.49952	0.952000	0.60782	-0.169000	0.09911	-0.136000	0.11475	0.462000	0.41574	CGG		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		103	82	103	82
STXBP5L	9515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	121097685	121097685	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:121097685G>T	ENST00000273666.6	+	22	2642	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S	STXBP5L_ENST00000492541.1_Missense_Mutation_p.A791S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A767S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	791					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTTCGAAAGGCCCAGTCAGC	0.388																																																0													54.0	51.0	52.0					3																	121097685		1854	4101	5955	SO:0001583	missense	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2371G>T	3.37:g.121097685G>T	ENSP00000273666:p.Ala791Ser		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680006	0.47886	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.28255	1.85;1.89;1.67;1.62	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	L	0.51422	1.61	0.80722	D	1	B;B	0.14438	0.01;0.004	B;B	0.11329	0.005;0.006	T	0.11567	-1.0582	10	0.10111	T	0.7	-16.9812	17.7945	0.88565	0.0:0.0:1.0:0.0	.	767;791	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	791;767;767;791	ENSP00000273666:A791S;ENSP00000420019:A767S;ENSP00000419627:A767S;ENSP00000420666:A791S	ENSP00000273666:A791S	A	+	1	0	STXBP5L	122580375	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.182000	0.94881	2.514000	0.84764	0.585000	0.79938	GCC		0.388	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			16	35	16	35
MFI2	4241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	196730813	196730813	+	Missense_Mutation	SNP	G	G	A	rs143354088		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:196730813G>A	ENST00000296350.5	-	15	2209	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	699	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTCCAGCGCCGCCACGTAGTC	0.647																																																0								G	VAL/ALA	0,4406		0,0,2203	117.0	131.0	126.0		2096	1.6	0.1	3	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense	MFI2	NM_005929.5	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	699/739	196730813	1,13005	2203	4300	6503	SO:0001583	missense	4241				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.2096C>T	3.37:g.196730813G>A	ENSP00000296350:p.Ala699Val		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358060	0.41801	0.0	1.16E-4	ENSG00000163975	ENST00000296350	T	0.33438	1.41	5.62	1.58	0.23477	.	0.290400	0.37178	N	0.002208	T	0.16896	0.0406	L	0.34521	1.04	0.49798	D	0.999825	B	0.15930	0.015	B	0.12156	0.007	T	0.11817	-1.0572	10	0.30078	T	0.28	-2.8768	1.4522	0.02377	0.1673:0.1429:0.3967:0.2931	.	699	P08582	TRFM_HUMAN	V	699	ENSP00000296350:A699V	ENSP00000296350:A699V	A	-	2	0	MFI2	198215210	0.209000	0.23505	0.078000	0.20375	0.949000	0.60115	0.561000	0.23515	-0.001000	0.14495	0.561000	0.74099	GCG		0.647	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			94	190	94	190
UGT2B7	7364	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	69972927	69972927	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:69972927C>A	ENST00000508661.1	+	4	1064	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	UGT2B7_ENST00000305231.7_Missense_Mutation_p.T346N|UGT2B7_ENST00000509763.1_3'UTR			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	346					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	AAACCAGATACCTTAGGTCTC	0.358																																																0													148.0	146.0	147.0					4																	69972927		2203	4300	6503	SO:0001583	missense	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.1037C>A	4.37:g.69972927C>A	ENSP00000427659:p.Thr346Asn		B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	C	3.814	-0.039216	0.07497	.	.	ENSG00000171234	ENST00000502942;ENST00000305231;ENST00000508661	T;T;T	0.59772	0.24;0.24;0.24	2.93	1.05	0.20165	.	0.150970	0.43579	U	0.000544	T	0.45115	0.1326	L	0.38692	1.165	0.09310	N	1	B;B	0.15719	0.014;0.006	B;B	0.30782	0.12;0.042	T	0.35151	-0.9800	9	.	.	.	.	9.1648	0.37046	0.3854:0.6146:0.0:0.0	.	346;346	E9PBP8;P16662	.;UD2B7_HUMAN	N	97;346;346	ENSP00000426206:T97N;ENSP00000304811:T346N;ENSP00000427659:T346N	.	T	+	2	0	UGT2B7	70007516	0.000000	0.05858	0.123000	0.21794	0.074000	0.17049	0.397000	0.20883	0.070000	0.16634	0.585000	0.79938	ACC		0.358	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		36	108	36	108
MTMR12	54545	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	32235068	32235068	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:32235068C>T	ENST00000382142.3	-	14	1682	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	RNU6-1079P_ENST00000362861.1_RNA|MTMR12_ENST00000280285.5_Splice_Site_p.M504I|MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000510216.1_5'Flank	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	504	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGACTCTTACCATGTTAGTAT	0.378																																																0													107.0	106.0	107.0					5																	32235068		2203	4300	6503	SO:0001630	splice_region_variant	54545			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1512+1G>A	5.37:g.32235068C>T			Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Splice_Site	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092668	0.20471	.	.	ENSG00000150712	ENST00000280285;ENST00000382142	D;D	0.89939	-2.59;-2.59	5.49	5.49	0.81192	Myotubularin phosphatase domain (1);	1.080400	0.07016	N	0.825934	T	0.82010	0.4944	N	0.05510	-0.035	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.004	T	0.60219	-0.7306	9	.	.	.	.	19.3766	0.94512	0.0:1.0:0.0:0.0	.	504;504	Q9C0I1-2;Q9C0I1	.;MTMRC_HUMAN	I	504	ENSP00000280285:M504I;ENSP00000371577:M504I	.	M	-	3	0	MTMR12	32270825	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	3.236000	0.51336	2.565000	0.86533	0.561000	0.74099	ATG		0.378	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	Missense_Mutation	14	40	14	40
ABLIM3	22885	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	148622095	148622095	+	Missense_Mutation	SNP	C	C	T	rs139404389	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:148622095C>T	ENST00000506113.1	+	14	1827	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	ABLIM3_ENST00000326685.7_Missense_Mutation_p.R354W|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000517451.1_5'Flank|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R449W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R416W|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	449					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCTACAAACGGCATGGTAT	0.572																																																0								C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	129.0	117.0	121.0		1345	3.5	1.0	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABLIM3	NM_014945.2	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	449/684	148622095	3,13003	2203	4300	6503	SO:0001583	missense	22885			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1345C>T	5.37:g.148622095C>T	ENSP00000425394:p.Arg449Trp		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075570	0.76415	4.54E-4	1.16E-4	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.41	3.46	0.39613	.	0.472322	0.23894	N	0.043513	T	0.39989	0.1099	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.62491	0.903;0.73	T	0.40156	-0.9578	10	0.87932	D	0	.	14.3401	0.66619	0.3654:0.6346:0.0:0.0	.	354;449	O94929-3;O94929	.;ABLM3_HUMAN	W	354;449;449;416	ENSP00000315841:R354W;ENSP00000310309:R449W;ENSP00000425394:R449W;ENSP00000420855:R416W	ENSP00000310309:R449W	R	+	1	2	ABLIM3	148602288	0.999000	0.42202	0.976000	0.42696	0.975000	0.68041	1.653000	0.37323	1.354000	0.45846	0.591000	0.81541	CGG		0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		14	148	14	148
ATP10B	23120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	160039781	160039781	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:160039781G>A	ENST00000327245.5	-	18	3651	c.2805C>T	c.(2803-2805)acC>acT	p.T935T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	935					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAGTGTCGGTCTGATTTA	0.493																																																0													75.0	75.0	75.0					5																	160039781		2121	4251	6372	SO:0001819	synonymous_variant	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2805C>T	5.37:g.160039781G>A			Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																				0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		15	59	15	59
EGFL8	80864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	32135153	32135153	+	Missense_Mutation	SNP	G	G	T	rs149576421		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:32135153G>T	ENST00000395512.1	+	7	733	c.628G>T	c.(628-630)Gct>Tct	p.A210S	AGPAT1_ENST00000490711.1_5'Flank|EGFL8_ENST00000333845.6_Missense_Mutation_p.A210S|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	210						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGATGAGCGCGCTCTGAAGCA	0.652																																																0													44.0	45.0	45.0					6																	32135153		1509	2708	4217	SO:0001583	missense	80864			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"""chromosome 6 open reading frame 8"""	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.628G>T	6.37:g.32135153G>T	ENSP00000378888:p.Ala210Ser		B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	ENST00000395512.1	37	CCDS4743.1	.	.	.	.	.	.	.	.	.	.	G	0.837	-0.743096	0.03088	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.89123	-2.47;-2.47;2.14	5.45	1.11	0.20524	.	.	.	.	.	T	0.62600	0.2441	L	0.37750	1.13	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.50021	-0.8876	9	0.10902	T	0.67	-6.7557	5.4355	0.16478	0.1705:0.0:0.5379:0.2916	.	210	Q99944	EGFL8_HUMAN	S	210;210;190	ENSP00000333380:A210S;ENSP00000378888:A210S;ENSP00000401694:A190S	ENSP00000333380:A210S	A	+	1	0	EGFL8	32243131	0.000000	0.05858	0.062000	0.19696	0.004000	0.04260	-0.427000	0.06999	0.270000	0.21984	-0.448000	0.05591	GCT		0.652	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076463.3	NM_030652		37	44	37	44
PPP2R5D	5528	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	42975186	42975186	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:42975186C>T	ENST00000485511.1	+	6	847	c.668C>T	c.(667-669)tCt>tTt	p.S223F	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.S215F|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.S117F|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.S191F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	223					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCCTTGAGTCTCCTGATTTC	0.512																																					Melanoma(63;587 1613 29742 31770)											0													246.0	221.0	230.0					6																	42975186		2203	4300	6503	SO:0001583	missense	5528			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.668C>T	6.37:g.42975186C>T	ENSP00000417963:p.Ser223Phe		A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609235	0.87258	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	T;T;T;T	0.56444	0.46;0.5;0.47;0.55	5.81	5.81	0.92471	Armadillo-type fold (1);	0.112313	0.64402	D	0.000005	T	0.80204	0.4580	H	0.97340	3.985	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.957;0.973;0.999;0.984	D	0.86419	0.1753	10	0.87932	D	0	-12.1576	15.5975	0.76599	0.0:0.8631:0.1369:0.0	.	117;223;223;191	Q14738-3;F5GYS1;Q14738;Q14738-2	.;.;2A5D_HUMAN;.	F	223;191;215;223;117	ENSP00000417963:S223F;ENSP00000377669:S191F;ENSP00000420550:S215F;ENSP00000420674:S117F	ENSP00000377669:S191F	S	+	2	0	PPP2R5D	43083164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.755000	0.94549	0.650000	0.86243	TCT		0.512	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		50	105	50	105
MEP1A	4224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	46800871	46800871	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:46800871G>A	ENST00000230588.4	+	11	1214	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	402	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R402H(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAAGTTTCGCTACCTTTTC	0.507																																																1	Substitution - Missense(1)	large_intestine(1)											82.0	83.0	82.0					6																	46800871		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1205G>A	6.37:g.46800871G>A	ENSP00000230588:p.Arg402His		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254006	0.95336	.	.	ENSG00000112818	ENST00000230588	T	0.02301	4.35	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01309	-1.1389	10	0.87932	D	0	-21.1973	19.5623	0.95376	0.0:0.0:1.0:0.0	.	430;402	B7ZL91;Q16819	.;MEP1A_HUMAN	H	402	ENSP00000230588:R402H	ENSP00000230588:R402H	R	+	2	0	MEP1A	46908830	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.869000	0.99810	2.619000	0.88677	0.650000	0.86243	CGC		0.507	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		37	80	37	80
TIAM2	26230	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	155578065	155578065	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:155578065C>G	ENST00000461783.3	+	29	6189	c.4916C>G	c.(4915-4917)gCc>gGc	p.A1639G	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668G|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951G|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564G|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983G|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639G|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015G|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668G|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAACGAAAAGCCAACAGCACC	0.567																																																0													65.0	62.0	63.0					6																	155578065		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4916C>G	6.37:g.155578065C>G	ENSP00000437188:p.Ala1639Gly		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918198	0.52546	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08896	3.52;3.44;3.52;3.33;3.5;3.44;3.33;3.33;3.04	5.75	5.75	0.90469	.	0.226348	0.45126	D	0.000400	T	0.04272	0.0118	L	0.59436	1.845	0.28743	N	0.901843	P;P;P;P	0.43352	0.704;0.804;0.804;0.704	B;B;B;B	0.39152	0.081;0.292;0.292;0.152	T	0.35025	-0.9805	10	0.26408	T	0.33	.	11.837	0.52330	0.0:0.9135:0.0:0.0865	.	983;1668;1663;1639	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	G	1639;1885;1668;1639;1015;1663;1668;951;983;564	ENSP00000437188:A1639G;ENSP00000407746:A1668G;ENSP00000327315:A1639G;ENSP00000356142:A1015G;ENSP00000353528:A1663G;ENSP00000433348:A1668G;ENSP00000407183:A951G;ENSP00000435335:A983G;ENSP00000275246:A564G	ENSP00000275246:A564G	A	+	2	0	TIAM2	155619757	0.904000	0.30761	0.949000	0.38748	0.981000	0.71138	1.760000	0.38430	2.704000	0.92352	0.655000	0.94253	GCC		0.567	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		25	31	25	31
GLI3	2737	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	42006178	42006178	+	Silent	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:42006178G>A	ENST00000395925.3	-	15	2577	c.2493C>T	c.(2491-2493)agC>agT	p.S831S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	831					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S831S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGAGAGGTCGCTTCTGCCCG	0.602									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							1	Substitution - coding silent(1)	endometrium(1)											72.0	76.0	75.0					7																	42006178		2203	4300	6503	SO:0001819	synonymous_variant	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2493C>T	7.37:g.42006178G>A			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.602	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		56	157	56	157
EGFR	1956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	15	Substitution - Missense(15)	central_nervous_system(15)											96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		1373	1949	1373	1949
ZNF679	168417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	63709527	63709527	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:63709527G>A	ENST00000421025.1	+	2	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572																																																0													45.0	37.0	39.0					7																	63709527		692	1591	2283	SO:0001583	missense	168417			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.32G>A	7.37:g.63709527G>A	ENSP00000416809:p.Arg11Gln			Missense_Mutation	SNP	ENST00000421025.1	37	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	g	0.443	-0.897384	0.02472	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.05925	3.37;3.37	0.421	-0.769	0.11009	Krueppel-associated box (1);	.	.	.	.	T	0.02688	0.0081	N	0.16201	0.385	0.09310	N	1	P	0.40376	0.715	B	0.32928	0.155	T	0.43343	-0.9397	8	0.27082	T	0.32	.	.	.	.	.	11	Q8IYX0	ZN679_HUMAN	Q	11	ENSP00000416809:R11Q;ENSP00000255746:R11Q	ENSP00000255746:R11Q	R	+	2	0	ZNF679	63346962	0.004000	0.15560	0.004000	0.12327	0.004000	0.04260	-2.224000	0.01213	-0.490000	0.06707	-0.485000	0.04761	CGA		0.572	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		17	76	17	76
SLC13A1	6561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	122759134	122759134	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:122759134C>T	ENST00000194130.2	-	13	1552		c.e13+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGATACTCACCAATGGAGAT	0.383																																																0													99.0	98.0	98.0					7																	122759134		2203	4300	6503	SO:0001630	splice_region_variant	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1512+1G>A	7.37:g.122759134C>T			Q9H5Z0	Splice_Site	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471982	0.84533	.	.	ENSG00000081800	ENST00000194130	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5309	0.90992	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC13A1	122546370	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.590000	0.82653	2.610000	0.88304	0.591000	0.81541	.		0.383	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	Intron	12	55	12	55
ZHX1	11244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	124267666	124267666	+	Missense_Mutation	SNP	G	G	A	rs35951597	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:124267666G>A	ENST00000522655.1	-	3	1061	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S174L|ZHX1_ENST00000395571.3_Missense_Mutation_p.S174L|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	174					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATATTCCCGAAGAAGAAAC	0.343													G|||	7	0.00139776	0.0	0.0043	5008	,	,		19799	0.0		0.004	False		,,,				2504	0.0															0								G	LEU/SER,,LEU/SER	2,4404	2.1+/-5.4	0,2,2201	100.0	102.0	102.0		521,,521	5.2	1.0	8	dbSNP_126	102	13,8587	9.8+/-36.6	0,13,4287	yes	missense,intron,missense	ZHX1,ZHX1-C8ORF76	NM_001017926.2,NM_001204180.1,NM_007222.4	145,,145	0,15,6488	AA,AG,GG		0.1512,0.0454,0.1153	benign,,benign	174/874,,174/874	124267666	15,12991	2203	4300	6503	SO:0001583	missense	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.521C>T	8.37:g.124267666G>A	ENSP00000428821:p.Ser174Leu		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	14.14	2.446451	0.43429	4.54E-4	0.001512	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.51817	0.69;0.69;0.69	5.21	5.21	0.72293	.	0.386727	0.24035	N	0.042156	T	0.39937	0.1097	.	.	.	0.35897	D	0.830109	P	0.39404	0.672	B	0.28139	0.086	T	0.56032	-0.8046	9	0.54805	T	0.06	-9.0435	18.7854	0.91952	0.0:0.0:1.0:0.0	rs35951597	174	Q9UKY1	ZHX1_HUMAN	L	174	ENSP00000297857:S174L;ENSP00000378938:S174L;ENSP00000428821:S174L	ENSP00000297857:S174L	S	-	2	0	ZHX1	124336847	0.992000	0.36948	0.986000	0.45419	0.943000	0.58893	6.494000	0.73661	2.429000	0.82318	0.505000	0.49811	TCG		0.343	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			15	66	15	66
GRIN3A	116443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	104356877	104356877	+	Intron	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:104356877G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.N112N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGAGCTCCCCGTTGGAAATGT	0.542																																																0													133.0	121.0	125.0					9																	104356877		2203	4300	6503	SO:0001627	intron_variant	5535				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15235C>T	9.37:g.104356877G>A			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.542	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			38	76	38	76
MID1	4281	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	10534972	10534972	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:10534972C>T	ENST00000317552.4	-	2	1016	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MID1_ENST00000380780.1_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380779.1_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	206					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGATGATCGCGGTGCCGC	0.488																																																0													104.0	83.0	90.0					X																	10534972		2203	4300	6503	SO:0001583	missense	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.616G>A	X.37:g.10534972C>T	ENSP00000312678:p.Asp206Asn		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975322	0.74360	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000413894	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.64	5.64	0.86602	Zinc finger, B-box (3);	0.043334	0.85682	D	0.000000	T	0.38161	0.1030	N	0.24115	0.695	0.80722	D	1	P;B;B	0.38195	0.622;0.369;0.096	B;B;B	0.33750	0.169;0.093;0.046	T	0.21484	-1.0244	10	0.12430	T	0.62	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	206;206;206	C9J453;O15344-2;O15344	.;.;TRI18_HUMAN	N	206	ENSP00000414521:D206N;ENSP00000312678:D206N;ENSP00000370162:D206N;ENSP00000370156:D206N;ENSP00000370164:D206N;ENSP00000370157:D206N;ENSP00000370159:D206N;ENSP00000391154:D206N	ENSP00000312678:D206N	D	-	1	0	MID1	10494972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GAT		0.488	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			26	59	26	59
GPR64	10149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	19031906	19031906	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:19031906G>A	ENST00000379869.3	-	16	1160	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	GPR64_ENST00000356606.4_Missense_Mutation_p.H319Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H303Y|GPR64_ENST00000340581.3_Missense_Mutation_p.H303Y|GPR64_ENST00000354791.3_Missense_Mutation_p.H317Y|GPR64_ENST00000379878.3_Missense_Mutation_p.H317Y|GPR64_ENST00000360279.4_Missense_Mutation_p.H311Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H333Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H330Y|GPR64_ENST00000379876.1_Missense_Mutation_p.H309Y	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	333					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCGGAGACATGGGTTTGGGGC	0.582																																																0													153.0	135.0	141.0					X																	19031906		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.997C>T	X.37:g.19031906G>A	ENSP00000369198:p.His333Tyr		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784844	0.31593	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.62;1.62;1.63;1.62;1.66;1.62;1.66;1.66;1.5	5.49	-6.6	0.01824	.	1.186030	0.06152	N	0.674282	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.31485	0.261;0.325;0.205;0.325;0.325;0.205;0.205;0.325;0.205;0.219;0.13	B;B;B;B;B;B;B;B;B;B;B	0.35655	0.04;0.207;0.207;0.207;0.207;0.207;0.207;0.207;0.207;0.102;0.102	T	0.41142	-0.9525	10	0.52906	T	0.07	.	9.3123	0.37912	0.0:0.3562:0.5016:0.1422	.	303;295;303;309;317;333;311;319;330;333;317	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Y	333;317;317;309;303;333;311;330;319;303	ENSP00000369202:H333Y;ENSP00000369207:H317Y;ENSP00000346845:H317Y;ENSP00000369205:H309Y;ENSP00000350152:H303Y;ENSP00000369198:H333Y;ENSP00000353421:H311Y;ENSP00000350680:H330Y;ENSP00000349015:H319Y;ENSP00000344972:H303Y	ENSP00000344972:H303Y	H	-	1	0	GPR64	18941827	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	-0.830000	0.04410	-1.632000	0.01541	0.529000	0.55759	CAT		0.582	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			94	194	94	194
GTF2IRD2P1	401375	broad.mit.edu;ucsc.edu	37	7	72658498	72658498	+	RNA	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:72658498G>A	ENST00000425256.1	-	0	1413									GTF2I repeat domain containing 2 pseudogene 1																		tgatctcatcgattgcgatag	0.463																																																0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658498G>A				RNA	SNP	ENST00000425256.1	37																																																																																					0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		25	99	25	99
PNMA5	114824	broad.mit.edu;ucsc.edu	37	X	152159280	152159280	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562																																																0													43.0	44.0	43.0					X																	152159280		2203	4298	6501	SO:0001583	missense	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.863G>A	X.37:g.152159280C>T	ENSP00000388850:p.Arg288His		B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034229	0.54896	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.97	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.45343	0.477	T	0.18840	-1.0324	9	0.72032	D	0.01	-25.6602	5.2804	0.15673	0.0:0.8331:0.0:0.1669	.	288	Q96PV4	PNMA5_HUMAN	H	288	ENSP00000354834:R288H;ENSP00000445775:R288H;ENSP00000388850:R288H;ENSP00000392342:R288H	ENSP00000354834:R288H	R	-	2	0	PNMA5	151909936	0.906000	0.30813	0.023000	0.16930	0.160000	0.22226	0.939000	0.28978	0.669000	0.31146	0.287000	0.19450	CGT		0.562	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		44	95	44	95
EPN3	55040	broad.mit.edu;ucsc.edu	37	17	48613860	48613860	+	5'UTR	SNP	G	G	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:48613860G>A	ENST00000268933.3	+	0	522				EPN3_ENST00000537145.1_Missense_Mutation_p.A64T|EPN3_ENST00000541226.1_5'UTR|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3							clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGCCACAGTGGCCCTCAGCCC	0.647																																																0																																										SO:0001623	5_prime_UTR_variant	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.-58G>A	17.37:g.48613860G>A			A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268070	0.40095	.	.	ENSG00000049283	ENST00000442715;ENST00000537145	T	0.15834	2.39	5.41	3.43	0.39272	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.80722	D	1	P	0.40107	0.703	B	0.40101	0.319	T	0.02581	-1.1138	8	0.87932	D	0	.	7.3606	0.26744	0.1926:0.0:0.8074:0.0	.	64	F6QWW5	.	T	64	ENSP00000439512:A64T	ENSP00000408537:A64T	A	+	1	0	EPN3	45968859	1.000000	0.71417	0.998000	0.56505	0.483000	0.33249	1.563000	0.36364	1.291000	0.44653	0.462000	0.41574	GCC		0.647	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		30	63	30	63
PRAMEF1	65121	broad.mit.edu;ucsc.edu	37	1	12856042	12856042	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:12856042T>A	ENST00000332296.7	+	4	1425	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L196Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	441					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGTACACTGAGGGAAGTC	0.562																																																0													169.0	173.0	172.0					1																	12856042		2202	4298	6500	SO:0001583	missense	65121			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1322T>A	1.37:g.12856042T>A	ENSP00000332134:p.Leu441Gln		Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.44	1.638756	0.29157	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.46451	0.87;0.87	1.56	1.56	0.23342	.	0.339120	0.23492	N	0.047596	T	0.61426	0.2346	M	0.86343	2.81	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.48736	-0.9009	10	0.87932	D	0	.	5.2173	0.15350	0.0:0.0:0.0:1.0	.	441	O95521	PRAM1_HUMAN	Q	441;196	ENSP00000332134:L441Q;ENSP00000383616:L196Q	ENSP00000332134:L441Q	L	+	2	0	PRAMEF1	12778629	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	1.408000	0.34668	0.966000	0.38159	0.172000	0.16884	CTG		0.562	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		49	297	49	297
PIK3R6	146850	broad.mit.edu;ucsc.edu	37	17	8741186	8741186	+	Silent	SNP	C	C	T	rs149242502		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:8741186C>T	ENST00000311434.9	-	5	431	c.192G>A	c.(190-192)gcG>gcA	p.A64A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	64					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCTGGCTTTCCGCCTGGAAAA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		21461	0.001		0.0	False		,,,				2504	0.0															0													113.0	118.0	116.0					17																	8741186		2116	4224	6340	SO:0001819	synonymous_variant	146850			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.192G>A	17.37:g.8741186C>T			Q658R3	Silent	SNP	ENST00000311434.9	37																																																																																					0.582	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		29	59	29	59
EEF1A1	1915	broad.mit.edu;hgsc.bcm.edu	37	6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)ggtgaa>gaa	p.G121del	EEF1A1_ENST00000331523.2_In_Frame_Del_p.G121del|EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_In_Frame_Del_p.G121del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																				0																																										SO:0001651	inframe_deletion	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.362_364delGTG	6.37:g.74228912_74228914delCAC	ENSP00000339063:p.Gly121del	1151	P04719|P04720|Q6IQ15	In_Frame_Del	DEL	ENST00000316292.9	37	CCDS4980.1																																																																																				0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		11	46	11	46
GALNT4	8693	broad.mit.edu;hgsc.bcm.edu	37	12	89916851	89916854	+	Frame_Shift_Del	DEL	TTTG	TTTG	-	rs555881011		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:89916851_89916854delTTTG	ENST00000529983.2	-	1	1729_1732	c.1473_1476delCAAA	c.(1471-1476)aacaaafs	p.NK491fs	POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000413530.1_Frame_Shift_Del_p.NK319fs|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000548729.1_Frame_Shift_Del_p.NK488fs	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	491	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ACCTTATTTCTTTGTTTGAAGTAT	0.387																																																0																																										SO:0001589	frameshift_variant	100528030			Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1473_1476delCAAA	12.37:g.89916855_89916858delTTTG	ENSP00000436604:p.Asn491fs		B2R775|B4DMX6|O00208	Frame_Shift_Del	DEL	ENST00000529983.2	37	CCDS53817.1																																																																																				0.387	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		16	26	16	26
ZNF569	148266	broad.mit.edu;hgsc.bcm.edu	37	19	37903500	37903502	+	Stop_Codon_Del	DEL	TAA	TAA	-			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:37903500_37903502delTAA	ENST00000316950.6	-	0	2615_2617				ZNF569_ENST00000392150.2_Stop_Codon_Del|ZNF569_ENST00000392149.2_Stop_Codon_Del	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATAGGGTTTCTAATGAGTATGAA	0.399																																																0																																										SO:0001567	stop_retained_variant	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	Exception_encountered	19.37:g.37903500_37903502delTAA	Exception_encountered		A8K1S2|Q15925|Q17RR6|Q96MQ2	In_Frame_Del	DEL	ENST00000316950.6	37	CCDS12503.1																																																																																				0.399	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		37	69	37	69
