#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
KIAA1462	57608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	30318651	30318651	+	Silent	SNP	G	G	A	rs374167700		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:30318651G>A	ENST00000375377.1	-	3	527	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	142					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCAGGCTGTGGGCTTGGGCCA	0.572																																																0													216.0	213.0	214.0					10																	30318651		2086	4228	6314	SO:0001819	synonymous_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.426C>T	10.37:g.30318651G>A			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.572	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		38	256	38	256
NRAP	4892	hgsc.bcm.edu;broad.mit.edu	37	10	115380379	115380379	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:115380379C>T	ENST00000359988.3	-	25	3102	c.2858G>A	c.(2857-2859)gGa>gAa	p.G953E	NRAP_ENST00000360478.3_Missense_Mutation_p.G918E|NRAP_ENST00000369358.4_Missense_Mutation_p.G961E|NRAP_ENST00000369360.3_Missense_Mutation_p.G926E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AATGAGTTCTCCTGCCTTCTT	0.498																																																0													151.0	131.0	137.0					10																	115380379		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2858G>A	10.37:g.115380379C>T	ENSP00000353078:p.Gly953Glu			Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182464	0.78677	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.17370	2.49;2.5;2.37;2.28	5.96	5.96	0.96718	.	0.107777	0.64402	D	0.000004	T	0.43500	0.1250	M	0.78456	2.415	0.50313	D	0.999864	D;D;D	0.71674	0.998;0.998;0.974	D;D;P	0.72625	0.951;0.978;0.722	T	0.13522	-1.0506	10	0.45353	T	0.12	.	15.8525	0.78943	0.0:0.8652:0.1348:0.0	.	953;918;953	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	E	961;926;953;918	ENSP00000358365:G961E;ENSP00000358367:G926E;ENSP00000353078:G953E;ENSP00000353666:G918E	ENSP00000353078:G953E	G	-	2	0	NRAP	115370369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.568000	0.67385	2.832000	0.97577	0.655000	0.94253	GGA		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		9	109	9	109
EIF3A	8661	hgsc.bcm.edu;broad.mit.edu	37	10	120802275	120802275	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:120802275T>G	ENST00000369144.3	-	19	2884	c.2757A>C	c.(2755-2757)agA>agC	p.R919S	EIF3A_ENST00000541549.1_Missense_Mutation_p.R885S	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTCTCCACGTCTCCACTCCC	0.423																																																0													95.0	101.0	99.0					10																	120802275		2203	4300	6503	SO:0001583	missense	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2757A>C	10.37:g.120802275T>G	ENSP00000358140:p.Arg919Ser		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.227982	0.39399	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24723	1.85;1.84	6.16	2.57	0.30868	.	0.000000	0.40554	N	0.001062	T	0.19046	0.0457	M	0.80746	2.51	0.49915	D	0.999837	P	0.40731	0.728	B	0.31946	0.138	T	0.12993	-1.0526	10	0.18276	T	0.48	-13.9622	0.5004	0.00579	0.2999:0.2738:0.1271:0.2992	.	919	Q14152	EIF3A_HUMAN	S	919;885	ENSP00000358140:R919S;ENSP00000438178:R885S	ENSP00000358140:R919S	R	-	3	2	EIF3A	120792265	0.978000	0.34361	1.000000	0.80357	0.890000	0.51754	-0.002000	0.12924	0.566000	0.29273	0.528000	0.53228	AGA		0.423	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		9	158	9	158
OR5M11	219487	hgsc.bcm.edu;broad.mit.edu	37	11	56310625	56310625	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:56310625C>T	ENST00000528616.2	-	1	132	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGCAGGGTGACGAGGTAAACA	0.473																																																0													125.0	124.0	124.0					11																	56310625		2108	4257	6365	SO:0001583	missense	219487			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.109G>A	11.37:g.56310625C>T	ENSP00000432417:p.Val37Ile		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.528204	0.00147	.	.	ENSG00000255223	ENST00000528616	T	0.00578	6.44	5.1	1.09	0.20402	.	.	.	.	.	T	0.00356	0.0011	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45789	-0.9237	9	0.02654	T	1	.	2.0359	0.03539	0.1376:0.4995:0.1337:0.2293	.	37	Q96RB7	OR5MB_HUMAN	I	37	ENSP00000432417:V37I	ENSP00000432417:V37I	V	-	1	0	OR5M11	56067201	0.000000	0.05858	0.017000	0.16124	0.029000	0.11900	-2.413000	0.01038	0.057000	0.16193	-0.181000	0.13052	GTC		0.473	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		6	109	6	109
ZFPL1	7542	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	64855417	64855417	+	Missense_Mutation	SNP	G	G	A	rs570349109		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:64855417G>A	ENST00000294258.3	+	8	916	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	255					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCTGGGTCTCGGAAGCGGCCG	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		14689	0.0		0.0	False		,,,				2504	0.001															0													30.0	34.0	33.0					11																	64855417		2200	4295	6495	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.764G>A	11.37:g.64855417G>A	ENSP00000294258:p.Arg255Gln		A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986456	0.53934	.	.	ENSG00000162300	ENST00000294258	T	0.47177	0.85	5.02	5.02	0.67125	.	0.126462	0.52532	D	0.000070	T	0.51295	0.1666	L	0.43152	1.355	0.80722	D	1	D	0.71674	0.998	P	0.52710	0.707	T	0.51756	-0.8665	10	0.54805	T	0.06	-12.8953	13.6929	0.62559	0.0:0.0:1.0:0.0	.	255	O95159	ZFPL1_HUMAN	Q	255	ENSP00000294258:R255Q	ENSP00000294258:R255Q	R	+	2	0	ZFPL1	64611993	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	2.947000	0.49058	2.608000	0.88229	0.655000	0.94253	CGG		0.697	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		13	85	13	85
SORL1	6653	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	121358800	121358800	+	Silent	SNP	T	T	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:121358800T>A	ENST00000260197.7	+	4	717	c.588T>A	c.(586-588)acT>acA	p.T196T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	196					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTGCAACACTCTTCAAGGCT	0.517																																																0													365.0	334.0	344.0					11																	121358800		2203	4299	6502	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.588T>A	11.37:g.121358800T>A			B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	CCDS8436.1																																																																																				0.517	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		64	292	64	292
ACACB	32	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	109690903	109690903	+	Silent	SNP	C	C	T	rs564550427		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:109690903C>T	ENST00000338432.7	+	43	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000377848.3_Silent_p.T1995T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1995	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CCCACATCACCGTGCCAGATG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		5710	0.0		0.0	False		,,,				2504	0.001															0													345.0	287.0	307.0					12																	109690903		2203	4300	6503	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5985C>T	12.37:g.109690903C>T			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.512	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		33	263	33	263
LATS2	26524	hgsc.bcm.edu;broad.mit.edu	37	13	21557659	21557659	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr13:21557659A>T	ENST00000382592.4	-	5	2591	c.2186T>A	c.(2185-2187)gTc>gAc	p.V729D	LATS2_ENST00000542899.1_Missense_Mutation_p.V729D	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GTAGAGTTTGACCACCCACTC	0.537																																																0													173.0	165.0	168.0					13																	21557659		2203	4300	6503	SO:0001583	missense	26524			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2186T>A	13.37:g.21557659A>T	ENSP00000372035:p.Val729Asp			Missense_Mutation	SNP	ENST00000382592.4	37	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171454	0.78452	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.15603	2.41;2.41	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000008	T	0.54951	0.1890	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70011	-0.4989	10	0.87932	D	0	.	15.2563	0.73588	1.0:0.0:0.0:0.0	.	729	Q9NRM7	LATS2_HUMAN	D	729	ENSP00000372035:V729D;ENSP00000441817:V729D	ENSP00000372035:V729D	V	-	2	0	LATS2	20455659	1.000000	0.71417	0.987000	0.45799	0.815000	0.46073	9.081000	0.94049	2.188000	0.69820	0.454000	0.30748	GTC		0.537	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			13	189	13	189
IDH2	3418	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																		Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)											85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			15	71	15	71
TMEM199	147007	hgsc.bcm.edu;ucsc.edu	37	17	26685983	26685983	+	Missense_Mutation	SNP	T	T	C	rs35276012	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr17:26685983T>C	ENST00000292114.3	+	2	346	c.256T>C	c.(256-258)Tat>Cat	p.Y86H	MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.Y86H|TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA|POLDIP2_ENST00000003607.4_5'Flank|TMEM199_ENST00000395404.3_Intron|POLDIP2_ENST00000540200.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	86						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CAGTGAAATCTATCTCCCAGA	0.433													T|||	31	0.0061901	0.0227	0.0014	5008	,	,		19147	0.0		0.0	False		,,,				2504	0.0															0								T	HIS/TYR	91,4315	76.2+/-114.5	1,89,2113	134.0	127.0	129.0		256	4.5	1.0	17	dbSNP_126	129	0,8600		0,0,4300	yes	missense	TMEM199	NM_152464.1	83	1,89,6413	CC,CT,TT		0.0,2.0654,0.6997	benign	86/209	26685983	91,12915	2203	4300	6503	SO:0001583	missense	147007			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.256T>C	17.37:g.26685983T>C	ENSP00000292114:p.Tyr86His			Missense_Mutation	SNP	ENST00000292114.3	37	CCDS11228.1	16	0.007326007326007326	15	0.03048780487804878	1	0.0027624309392265192	0	0.0	0	0.0	T	12.97	2.098662	0.37048	0.020654	0.0	ENSG00000244045	ENST00000292114;ENST00000509083	T;T	0.36340	1.26;1.26	5.63	4.54	0.55810	.	0.222255	0.46145	D	0.000320	T	0.04497	0.0123	N	0.03281	-0.365	0.30807	N	0.739215	B;B	0.25007	0.116;0.0	B;B	0.24974	0.057;0.002	T	0.11397	-1.0589	10	0.16420	T	0.52	-8.3434	5.9619	0.19305	0.0:0.1445:0.1405:0.715	rs35276012	86;86	E9PBQ3;Q8N511	.;TM199_HUMAN	H	86	ENSP00000292114:Y86H;ENSP00000427614:Y86H	ENSP00000292114:Y86H	Y	+	1	0	TMEM199	23710110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.546000	0.36179	2.145000	0.66743	0.533000	0.62120	TAT		0.433	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		6	69	6	69
ZNF177	7730	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9492389	9492389	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:9492389T>G	ENST00000589262.1	+	6	1448	c.1382T>G	c.(1381-1383)tTt>tGt	p.F461C	ZNF177_ENST00000434737.2_Missense_Mutation_p.F461C|ZNF177_ENST00000602738.1_Missense_Mutation_p.F301C|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.F301C|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Missense_Mutation_p.F301C|ZNF177_ENST00000602856.1_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	461					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAAAAAGCCTTTAGCACAAGC	0.448																																																0													154.0	162.0	159.0					19																	9492389		2203	4300	6503	SO:0001583	missense	7730			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1382T>G	19.37:g.9492389T>G	ENSP00000468531:p.Phe461Cys		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958823	0.53400	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.45668	0.89;0.89;0.89	2.49	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68796	0.3040	M	0.93241	3.395	0.27508	N	0.951765	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.78828	-0.2050	8	0.87932	D	0	.	8.8383	0.35126	0.0:0.0:0.0:1.0	.	461;301	B4DY57;Q13360	.;ZN177_HUMAN	C	301;301;461	ENSP00000445323:F301C;ENSP00000341497:F301C;ENSP00000415070:F461C	ENSP00000341497:F301C	F	+	2	0	ZNF177	9353389	1.000000	0.71417	0.442000	0.26870	0.909000	0.53808	4.809000	0.62591	1.404000	0.46819	0.460000	0.39030	TTT		0.448	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		32	163	32	163
KCNK6	9424	hgsc.bcm.edu;broad.mit.edu	37	19	38817239	38817239	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:38817239G>A	ENST00000263372.3	+	2	436	c.329G>A	c.(328-330)gGg>gAg	p.G110E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	110					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTAGGCTATGGGTACACAACG	0.572																																																0													101.0	101.0	101.0					19																	38817239		2203	4300	6503	SO:0001583	missense	9424			AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.329G>A	19.37:g.38817239G>A	ENSP00000263372:p.Gly110Glu		Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567877	0.86439	.	.	ENSG00000099337	ENST00000263372	D	0.82893	-1.66	4.65	4.65	0.58169	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95449	0.8532	10	0.87932	D	0	.	15.0538	0.71897	0.0:0.0:1.0:0.0	.	110	Q9Y257	KCNK6_HUMAN	E	110	ENSP00000263372:G110E	ENSP00000263372:G110E	G	+	2	0	KCNK6	43509079	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.528000	0.98046	2.422000	0.82143	0.491000	0.48974	GGG		0.572	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		8	150	8	150
AURKAIP1	54998	hgsc.bcm.edu;broad.mit.edu	37	1	1309600	1309600	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr1:1309600C>T	ENST00000338370.3	-	2	678	c.278G>A	c.(277-279)gGg>gAg	p.G93E	AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000489799.1_5'Flank|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G93E			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	93					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCCACAGTCCCTGCGGTCCC	0.657																																																0													51.0	60.0	57.0					1																	1309600		2203	4295	6498	SO:0001583	missense	54998				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.278G>A	1.37:g.1309600C>T	ENSP00000342676:p.Gly93Glu		Q5TA36|Q8TBD3	Missense_Mutation	SNP	ENST00000338370.3	37	CCDS25.1	.	.	.	.	.	.	.	.	.	.	c	3.351	-0.132465	0.06753	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.71	-9.42	0.00610	.	0.853520	0.10190	N	0.704707	T	0.16896	0.0406	L	0.35723	1.085	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.44421	-0.9329	10	0.02654	T	1	-2.9457	0.5878	0.00723	0.2089:0.1815:0.2566:0.3531	.	93	Q9NWT8	AKIP_HUMAN	E	93	ENSP00000340656:G93E;ENSP00000342676:G93E;ENSP00000319778:G93E;ENSP00000368130:G93E	ENSP00000319778:G93E	G	-	2	0	AURKAIP1	1299463	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.464000	0.02359	-2.200000	0.00747	-0.793000	0.03317	GGG		0.657	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		7	70	7	70
NRXN1	9378	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	50723230	50723230	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:50723230G>C	ENST00000406316.2	-	15	4359	c.2883C>G	c.(2881-2883)taC>taG	p.Y961*	NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.Y1001*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y953*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	961	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTAATGTAAGTACCTGGGAA	0.353																																																0													63.0	51.0	55.0					2																	50723230		1863	4110	5973	SO:0001587	stop_gained	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2883C>G	2.37:g.50723230G>C	ENSP00000384311:p.Tyr961*		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	51	17.563971	0.99889	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4676	0.21990	0.2089:0.0:0.7911:0.0	.	.	.	.	X	1001;961;953;961;1002;953;961	.	.	Y	-	3	2	NRXN1	50576734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.710000	0.37920	2.844000	0.97970	0.650000	0.86243	TAC		0.353	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	11	4	11
MRPS5	64969	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	95773974	95773974	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:95773974C>T	ENST00000272418.2	-	5	791	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	195					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATGAGTTTCCACTCCATCCT	0.532																																																0													195.0	159.0	171.0					2																	95773974		2203	4300	6503	SO:0001583	missense	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.583G>A	2.37:g.95773974C>T	ENSP00000272418:p.Gly195Arg		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401210	0.62288	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	5.08	0.68730	.	0.049253	0.85682	N	0.000000	T	0.80798	0.4692	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.83790	0.0230	9	0.87932	D	0	-21.9676	16.3231	0.82958	0.0:1.0:0.0:0.0	.	195;195	B4DIW8;P82675	.;RT05_HUMAN	R	195	.	ENSP00000272418:G195R	G	-	1	0	MRPS5	95137701	1.000000	0.71417	0.854000	0.33618	0.017000	0.09413	7.183000	0.77697	2.526000	0.85167	0.462000	0.41574	GGA		0.532	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		16	100	16	100
GYG1	2992	hgsc.bcm.edu;broad.mit.edu	37	3	148744693	148744693	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:148744693G>C	ENST00000345003.4	+	8	1326	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	GYG1_ENST00000479119.1_3'UTR|GYG1_ENST00000296048.6_Missense_Mutation_p.K325N|GYG1_ENST00000484197.1_Missense_Mutation_p.R252T	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	342					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACAACATCAAGAGGAAACTTG	0.458																																																0													88.0	89.0	89.0					3																	148744693		2203	4300	6503	SO:0001583	missense	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.1026G>C	3.37:g.148744693G>C	ENSP00000340736:p.Lys342Asn		D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	ENST00000345003.4	37	CCDS3139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.060958|3.060958	0.55432|0.55432	.|.	.|.	ENSG00000163754|ENSG00000163754	ENST00000345003;ENST00000296048|ENST00000484197	T;T|T	0.64991|0.78364	-0.13;-0.12|-1.17	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.094736|.	0.64402|.	D|.	0.000001|.	T|T	0.73613|0.73613	0.3609|0.3609	M|M	0.78637|0.78637	2.42|2.42	0.34553|0.34553	D|D	0.711517|0.711517	B;B|B	0.26512|0.32573	0.12;0.151|0.376	B;B|B	0.32022|0.26770	0.139;0.082|0.073	T|T	0.75065|0.75065	-0.3449|-0.3449	10|9	0.49607|0.11794	T|T	0.09|0.64	-10.0079|-10.0079	12.7999|12.7999	0.57580|0.57580	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	325;342|252	P46976-2;P46976|D3DNH0	.;GLYG_HUMAN|.	N|T	342;325|252	ENSP00000340736:K342N;ENSP00000296048:K325N|ENSP00000420683:R252T	ENSP00000296048:K325N|ENSP00000420683:R252T	K|R	+|+	3|2	2|0	GYG1|GYG1	150227383|150227383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.465000|5.465000	0.66725|0.66725	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.458	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		8	112	8	112
HERPUD2	64224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	35707097	35707097	+	Silent	SNP	T	T	C			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:35707097T>C	ENST00000396081.1	-	4	1245	c.441A>G	c.(439-441)ccA>ccG	p.P147P	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P147P	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	147					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTTGTGCTTGTGGAAGGGTAC	0.458																																																0													180.0	164.0	169.0					7																	35707097		2203	4300	6503	SO:0001819	synonymous_variant	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.441A>G	7.37:g.35707097T>C			A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	CCDS5446.1																																																																																				0.458	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		30	122	30	122
WNK3	65267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	54335536	54335536	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chrX:54335536C>A	ENST00000375159.2	-	3	922	c.923G>T	c.(922-924)aGt>aTt	p.S308I	WNK3_ENST00000354646.2_Missense_Mutation_p.S308I|WNK3_ENST00000375169.3_Missense_Mutation_p.S308I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	308	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACCAATGACACTCTTAGCAAA	0.413																																																0													92.0	73.0	79.0					X																	54335536		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.923G>T	X.37:g.54335536C>A	ENSP00000364301:p.Ser308Ile		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299425	0.81136	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.26223	1.75;1.75;1.75	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.47154	0.1430	L	0.53671	1.685	0.52099	D	0.999942	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.49072	-0.8977	10	0.87932	D	0	-9.1246	15.9501	0.79827	0.0:1.0:0.0:0.0	.	308;308	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	308	ENSP00000364312:S308I;ENSP00000346667:S308I;ENSP00000364301:S308I	ENSP00000346667:S308I	S	-	2	0	WNK3	54352261	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.688000	0.84153	2.102000	0.63906	0.415000	0.27848	AGT		0.413	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		16	53	16	53
TLR6	10333	broad.mit.edu;ucsc.edu	37	4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T	rs556706627		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:38829218C>T	ENST00000381950.1	-	1	1942	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_ENST00000436693.2_Missense_Mutation_p.R626H			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	626					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20313	0.0		0.001	False		,,,				2504	0.0															0													98.0	96.0	97.0					4																	38829218		2203	4300	6503	SO:0001583	missense	10333				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1877G>A	4.37:g.38829218C>T	ENSP00000371376:p.Arg626His		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.807402	0.00606	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.09723	2.95;2.95	4.29	-8.58	0.00897	.	0.861964	0.10184	N	0.705435	T	0.05640	0.0148	N	0.16903	0.455	0.09310	N	0.999998	B	0.12013	0.005	B	0.10450	0.005	T	0.35748	-0.9776	10	0.23302	T	0.38	.	13.5409	0.61672	0.0869:0.1805:0.0:0.7327	.	626	Q9Y2C9	TLR6_HUMAN	H	626	ENSP00000389600:R626H;ENSP00000371376:R626H	ENSP00000371376:R626H	R	-	2	0	TLR6	38505613	0.000000	0.05858	0.090000	0.20809	0.079000	0.17450	-1.074000	0.03427	-2.583000	0.00461	-1.199000	0.01669	CGC		0.502	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			22	111	22	111
ARMC5	79798	broad.mit.edu;ucsc.edu	37	16	31470908	31470908	+	Silent	SNP	G	G	A	rs375181224	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:31470908G>A	ENST00000563544.1	+	2	609	c.63G>A	c.(61-63)gcG>gcA	p.A21A	ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000408912.3_Silent_p.A116A|ARMC5_ENST00000268314.4_Silent_p.A21A|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Silent_p.A53A|ARMC5_ENST00000457010.2_Silent_p.A21A			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	21										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCTCGCGGCGGCGGCCGGGG	0.711													G|||	16	0.00319489	0.0121	0.0	5008	,	,		11332	0.0		0.0	False		,,,				2504	0.0															0								G	,	39,3767		0,39,1864	10.0	15.0	13.0		63,63	2.6	1.0	16		13	0,8180		0,0,4090	no	coding-synonymous,coding-synonymous	ARMC5	NM_001105247.1,NM_024742.2	,	0,39,5954	AA,AG,GG		0.0,1.0247,0.3254	,	21/936,21/726	31470908	39,11947	1903	4090	5993	SO:0001819	synonymous_variant	79798			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.63G>A	16.37:g.31470908G>A			Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	CCDS45472.1																																																																																				0.711	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		3	18	3	18
OTOGL	283310	broad.mit.edu;ucsc.edu	37	12	80749688	80749688	+	Silent	SNP	C	C	T			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:80749688C>T	ENST00000547103.1	+	46	5709	c.5703C>T	c.(5701-5703)ggC>ggT	p.G1901G	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Silent_p.G1913G			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1901					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGTCATGGGCATCATTGATA	0.393																																																0													246.0	230.0	235.0					12																	80749688		1917	4140	6057	SO:0001819	synonymous_variant	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5703C>T	12.37:g.80749688C>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	ENST00000547103.1	37		.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246507	0.01481	.	.	ENSG00000165899	ENST00000298820	.	.	.	5.18	1.01	0.19927	.	.	.	.	.	T	0.20455	0.0492	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21621	-1.0240	4	.	.	.	.	0.7636	0.01011	0.162:0.3201:0.1587:0.3592	.	.	.	.	V	356	.	.	A	+	2	0	OTOGL	79273819	0.971000	0.33674	0.014000	0.15608	0.046000	0.14306	1.022000	0.30052	0.192000	0.20272	0.591000	0.81541	GCA		0.393	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		23	194	23	194
N4BP2	55728	broad.mit.edu;hgsc.bcm.edu	37	4	40104251	40104252	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:40104251_40104252insA	ENST00000261435.6	+	4	1202_1203	c.786_787insA	c.(787-789)aatfs	p.N263fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	263					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTAGCAGTCTCAATCAAAAACA	0.411																																																0																																										SO:0001589	frameshift_variant	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.788dupA	4.37:g.40104253_40104253dupA	ENSP00000261435:p.Asn263fs		A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Ins	INS	ENST00000261435.6	37	CCDS3457.1																																																																																				0.411	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		12	51	12	51
