#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
COL17A1	1308	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	105793848	105793848	+	Silent	SNP	A	A	G	rs147001132		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr10:105793848A>G	ENST00000353479.5	-	52	4301	c.4011T>C	c.(4009-4011)taT>taC	p.Y1337Y	COL17A1_ENST00000369733.3_Silent_p.Y1255Y	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1337	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCAGTGCCATAGGGACCCC	0.617													A|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0															0								A		1,4405	2.1+/-5.4	0,1,2202	66.0	64.0	65.0		4011	-5.2	0.9	10	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COL17A1	NM_000494.3		0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231		1337/1498	105793848	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4011T>C	10.37:g.105793848A>G			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	CCDS7554.1																																																																																				0.617	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		4	5	4	5
OR5AP2	338675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	56409492	56409492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:56409492C>T	ENST00000302981.1	-	1	423	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	OR5AP2_ENST00000544374.1_Missense_Mutation_p.V143M	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V142M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTCCCAGACACGAGAACTGGG	0.488																																																1	Substitution - Missense(1)	large_intestine(1)											68.0	71.0	70.0					11																	56409492		2201	4296	6497	SO:0001583	missense	338675			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.424G>A	11.37:g.56409492C>T	ENSP00000303111:p.Val142Met		B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.413566	0.00191	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.01099	5.34;5.34	4.82	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	0.203156	0.34777	N	0.003683	T	0.00300	0.0009	N	0.00097	-2.15	0.09310	N	0.999998	B	0.12630	0.006	B	0.09377	0.004	T	0.46748	-0.9169	10	0.02654	T	1	.	9.7232	0.40315	0.0:0.2601:0.0:0.7399	.	142	Q8NGF4	O5AP2_HUMAN	M	143;142	ENSP00000442701:V143M;ENSP00000303111:V142M	ENSP00000303111:V142M	V	-	1	0	OR5AP2	56166068	1.000000	0.71417	0.942000	0.38095	0.003000	0.03518	1.614000	0.36911	-0.229000	0.09854	-2.711000	0.00134	GTG		0.488	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		13	37	13	37
PRCP	5547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	82571020	82571020	+	Splice_Site	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:82571020G>A	ENST00000313010.3	-	2	502	c.308C>T	c.(307-309)aCg>aTg	p.T103M	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Splice_Site_p.T124M	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	103					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGCACATACCGTGTTATTACA	0.353																																																0													90.0	81.0	84.0					11																	82571020		2202	4299	6501	SO:0001630	splice_region_variant	5547			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.309+1C>T	11.37:g.82571020G>A			A8MU24|B2R7B7|B3KRK5|B5BU34	Splice_Site	SNP	ENST00000313010.3	37	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475424	0.84640	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000529671;ENST00000532809	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.58787	-0.7575	9	.	.	.	-14.0412	19.4057	0.94647	0.0:0.0:1.0:0.0	.	103;124	P42785;A8MU24	PCP_HUMAN;.	M	103;124;62;49	ENSP00000317362:T103M;ENSP00000377055:T124M;ENSP00000434771:T62M;ENSP00000437169:T49M	.	T	-	2	0	PRCP	82248668	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.474000	0.97718	2.604000	0.88044	0.491000	0.48974	ACG		0.353	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040	Missense_Mutation	10	34	10	34
ESAM	90952	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	124624651	124624651	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:124624651G>A	ENST00000278927.5	-	5	745	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	VSIG2_ENST00000326621.5_5'Flank|VSIG2_ENST00000403470.1_5'Flank|ESAM_ENST00000442070.2_Missense_Mutation_p.R27C	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	206	Ig-like C2-type.				blood coagulation (GO:0007596)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)|single organismal cell-cell adhesion (GO:0016337)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		AAAGACCCACGGATGACATCT	0.478																																																0													171.0	163.0	166.0					11																	124624651		2201	4299	6500	SO:0001583	missense	90952			AK075396	CCDS8453.1	11q24.2	2013-01-29			ENSG00000149564	ENSG00000149564		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17474	protein-coding gene	gene with protein product		614281				11279107, 11906820	Standard	NM_138961		Approved	W117m	uc001qav.4	Q96AP7	OTTHUMG00000151986	ENST00000278927.5:c.616C>T	11.37:g.124624651G>A	ENSP00000278927:p.Arg206Cys		B4DVN8|Q96T50	Missense_Mutation	SNP	ENST00000278927.5	37	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748849	0.69533	.	.	ENSG00000149564	ENST00000442070;ENST00000444566;ENST00000278927;ENST00000435477	T;T;T;T	0.15603	4.18;4.18;2.41;2.41	5.73	4.8	0.61643	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.487586	0.22040	N	0.065475	T	0.35158	0.0922	M	0.73217	2.22	0.09310	N	0.999999	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	P;P;P;P	0.59703	0.809;0.799;0.806;0.862	T	0.16719	-1.0393	10	0.56958	D	0.05	.	11.5497	0.50713	0.0:0.0:0.6757:0.3243	.	27;206;206;79	B4DVN8;F8WDW9;Q96AP7;C9JIE7	.;.;ESAM_HUMAN;.	C	27;27;206;79	ENSP00000410351:R27C;ENSP00000406689:R27C;ENSP00000278927:R206C;ENSP00000415893:R79C	ENSP00000278927:R206C	R	-	1	0	ESAM	124129861	0.004000	0.15560	0.004000	0.12327	0.347000	0.29111	1.387000	0.34430	1.349000	0.45751	0.655000	0.94253	CGT		0.478	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	NM_138961		36	68	36	68
TUBGCP5	114791	hgsc.bcm.edu;broad.mit.edu	37	15	22835954	22835954	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:22835954A>G	ENST00000283645.4	+	2	315	c.185A>G	c.(184-186)gAa>gGa	p.E62G	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E62G	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	62					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CACAAAATAGAAAAAACAATC	0.313																																																0													120.0	133.0	129.0					15																	22835954		2203	4299	6502	SO:0001583	missense	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.185A>G	15.37:g.22835954A>G	ENSP00000283645:p.Glu62Gly		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	12.56	1.973608	0.34848	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.25250	1.81;1.81	5.44	4.31	0.51392	.	0.442058	0.26210	N	0.025699	T	0.21186	0.0510	L	0.56769	1.78	0.33684	D	0.612465	P;P	0.40000	0.698;0.698	B;B	0.35312	0.2;0.2	T	0.34950	-0.9808	10	0.45353	T	0.12	-17.6039	6.3131	0.21176	0.7836:0.0:0.0747:0.1416	.	62;62	Q96RT8;E9PB12	GCP5_HUMAN;.	G	62	ENSP00000283645:E62G;ENSP00000409217:E62G	ENSP00000283645:E62G	E	+	2	0	TUBGCP5	20387395	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.534000	0.60622	2.187000	0.69744	0.533000	0.62120	GAA		0.313	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		57	98	57	98
DUOX2	50506	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	45401122	45401122	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:45401122G>A	ENST00000603300.1	-	12	1465	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	DUOX2_ENST00000389039.6_Silent_p.S421S	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	421	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTCTGTACGGGAGAATTTGC	0.557																																																0													49.0	52.0	51.0					15																	45401122		2198	4298	6496	SO:0001819	synonymous_variant	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1263C>T	15.37:g.45401122G>A			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	CCDS10117.1																																																																																				0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		14	46	14	46
MYH11	4629	hgsc.bcm.edu;broad.mit.edu	37	16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr16:15839063C>T	ENST00000300036.5	-	20	2552	c.2443G>A	c.(2443-2445)Gcc>Acc	p.A815T	MYH11_ENST00000576790.2_Missense_Mutation_p.A815T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000452625.2_Missense_Mutation_p.A822T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML																																		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													68.0	64.0	65.0					16																	15839063		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2443G>A	16.37:g.15839063C>T	ENSP00000300036:p.Ala815Thr		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324599	0.95708	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.935	D	0.94273	0.7512	10	0.87932	D	0	.	16.5013	0.84257	0.0:1.0:0.0:0.0	.	822;815;822;815;822	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	815;815;822;822;822	ENSP00000300036:A815T;ENSP00000345136:A815T;ENSP00000379616:A822T;ENSP00000407821:A822T	ENSP00000300036:A815T	A	-	1	0	MYH11	15746564	1.000000	0.71417	0.936000	0.37596	0.966000	0.64601	7.810000	0.86072	2.112000	0.64535	0.549000	0.68633	GCC		0.617	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		24	43	24	43
DVL2	1856	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7130442	7130442	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:7130442C>T	ENST00000005340.5	-	13	1792	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I	DVL2_ENST00000574642.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.V498I	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	504	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCGAAGACGTAATAGCAC	0.587																																																0													168.0	144.0	152.0					17																	7130442		2203	4300	6503	SO:0001583	missense	1856			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1510G>A	17.37:g.7130442C>T	ENSP00000005340:p.Val504Ile		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	8.885	0.952522	0.18431	.	.	ENSG00000004975	ENST00000005340	T	0.22134	1.97	4.35	3.38	0.38709	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.296030	0.31542	N	0.007468	T	0.11537	0.0281	N	0.25286	0.73	0.45295	D	0.998294	B;B	0.32526	0.219;0.374	B;B	0.33890	0.13;0.172	T	0.12167	-1.0558	10	0.12103	T	0.63	-20.6823	6.7875	0.23682	0.0:0.7897:0.0:0.2103	.	498;504	B4DLQ0;O14641	.;DVL2_HUMAN	I	504	ENSP00000005340:V504I	ENSP00000005340:V504I	V	-	1	0	DVL2	7071166	0.711000	0.27906	0.990000	0.47175	0.978000	0.69477	1.114000	0.31196	1.064000	0.40671	-0.216000	0.12614	GTC		0.587	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		37	72	37	72
MYOCD	93649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	12620681	12620681	+	Missense_Mutation	SNP	C	C	T	rs372478735		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:12620681C>T	ENST00000343344.4	+	4	196	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	MYOCD_ENST00000425538.1_Missense_Mutation_p.R66C			Q8IZQ8	MYCD_HUMAN	myocardin	66					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCCCTGAAGCGCAAAGCCAG	0.398																																																0								C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	64.0	64.0		196,196	5.7	1.0	17		64	0,8600		0,0,4300	no	missense,missense	MYOCD	NM_001146312.1,NM_153604.2	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	66/987,66/939	12620681	1,13005	2203	4300	6503	SO:0001583	missense	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.196C>T	17.37:g.12620681C>T	ENSP00000341835:p.Arg66Cys		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550205	0.65311	2.27E-4	0.0	ENSG00000141052	ENST00000425538;ENST00000343344	T	0.50813	0.73	5.65	5.65	0.86999	.	0.866772	0.10355	N	0.684603	T	0.54806	0.1881	L	0.47190	1.495	0.80722	D	1	D;D	0.64830	0.994;0.99	P;B	0.48524	0.58;0.376	T	0.56372	-0.7990	10	0.66056	D	0.02	-2.9205	18.6545	0.91445	0.0:1.0:0.0:0.0	.	66;66	Q8IZQ8-3;Q8IZQ8	.;MYCD_HUMAN	C	66	ENSP00000341835:R66C	ENSP00000341835:R66C	R	+	1	0	MYOCD	12561406	1.000000	0.71417	0.969000	0.41365	0.395000	0.30598	5.617000	0.67716	2.941000	0.99782	0.655000	0.94253	CGC		0.398	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		6	15	6	15
ATP8B3	148229	hgsc.bcm.edu;broad.mit.edu	37	19	1785228	1785228	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:1785228G>A	ENST00000310127.6	-	27	3700	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	ATP8B3_ENST00000525591.1_Silent_p.Y1117Y|ATP8B3_ENST00000539485.1_Silent_p.Y1164Y	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1154					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|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)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		TCATGATGGCGTAGAAACCAA	0.597																																																0													46.0	58.0	54.0					19																	1785228		2196	4295	6491	SO:0001819	synonymous_variant	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3462C>T	19.37:g.1785228G>A			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	CCDS45901.1																																																																																				0.597	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		5	8	5	8
WDR63	126820	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	85546977	85546977	+	Missense_Mutation	SNP	G	G	T	rs370422920		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:85546977G>T	ENST00000294664.6	+	4	344	c.164G>T	c.(163-165)cGa>cTa	p.R55L	WDR63_ENST00000326813.8_Missense_Mutation_p.R55L|WDR63_ENST00000370596.1_Missense_Mutation_p.R55L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	55										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTAACTGCCGAATAGATGAA	0.368																																																0													110.0	109.0	110.0					1																	85546977		2203	4300	6503	SO:0001583	missense	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.164G>T	1.37:g.85546977G>T	ENSP00000294664:p.Arg55Leu		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704083	0.68615	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.84	4.93	0.64822	.	0.266236	0.36338	N	0.002654	T	0.47322	0.1439	M	0.74881	2.28	0.39574	D	0.969321	P;P	0.49447	0.924;0.875	P;B	0.50537	0.643;0.44	T	0.46428	-0.9192	10	0.40728	T	0.16	-12.1669	12.5927	0.56451	0.1304:0.0:0.8696:0.0	.	55;55	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	L	55;55;55;42	ENSP00000359628:R55L;ENSP00000317463:R55L;ENSP00000294664:R55L;ENSP00000435102:R42L	ENSP00000294664:R55L	R	+	2	0	WDR63	85319565	0.999000	0.42202	0.998000	0.56505	0.918000	0.54935	5.096000	0.64535	2.770000	0.95276	0.650000	0.86243	CGA		0.368	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		42	72	42	72
SPAG17	200162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	118558706	118558706	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:118558706A>C	ENST00000336338.5	-	29	4234	c.4169T>G	c.(4168-4170)aTa>aGa	p.I1390R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1390						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAGGTGCCTATGTGAACCTC	0.468																																																0													170.0	169.0	170.0					1																	118558706		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4169T>G	1.37:g.118558706A>C	ENSP00000337804:p.Ile1390Arg		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	1.854	-0.464233	0.04476	.	.	ENSG00000155761	ENST00000336338	T	0.16324	2.35	4.72	-1.81	0.07882	.	0.718690	0.13455	N	0.386583	T	0.02767	0.0083	N	0.19112	0.55	0.09310	N	0.999999	B	0.12013	0.005	B	0.11329	0.006	T	0.41342	-0.9514	10	0.59425	D	0.04	.	4.5705	0.12207	0.4227:0.0:0.4184:0.1589	.	1390	Q6Q759	SPG17_HUMAN	R	1390	ENSP00000337804:I1390R	ENSP00000337804:I1390R	I	-	2	0	SPAG17	118360229	0.000000	0.05858	0.034000	0.17996	0.046000	0.14306	-0.040000	0.12104	-0.096000	0.12329	-0.756000	0.03474	ATA		0.468	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		26	54	26	54
FLG	2312	hgsc.bcm.edu;broad.mit.edu	37	1	152279767	152279767	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152279767G>A	ENST00000368799.1	-	3	7630	c.7595C>T	c.(7594-7596)tCg>tTg	p.S2532L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2532	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)			ATGGTGACGCGACCCTGAGTG	0.597									Ichthyosis																																							0													272.0	280.0	277.0					1																	152279767		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.7595C>T	1.37:g.152279767G>A	ENSP00000357789:p.Ser2532Leu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286546	0.23478	.	.	ENSG00000143631	ENST00000368799	T	0.05925	3.37	2.09	1.12	0.20585	.	.	.	.	.	T	0.03651	0.0104	M	0.80028	2.48	0.09310	N	1	D	0.61080	0.989	P	0.45913	0.497	T	0.35001	-0.9806	9	0.24483	T	0.36	.	4.7065	0.12853	0.2019:0.0:0.7981:0.0	.	2532	P20930	FILA_HUMAN	L	2532	ENSP00000357789:S2532L	ENSP00000357789:S2532L	S	-	2	0	FLG	150546391	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.984000	0.29565	0.215000	0.20761	0.306000	0.20318	TCG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		113	238	113	238
OR6K3	391114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	158687191	158687191	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:158687191T>G	ENST00000368146.1	-	1	762	c.763A>C	c.(763-765)Acc>Ccc	p.T255P	OR6K3_ENST00000368145.1_Missense_Mutation_p.T239P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	255						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(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCTGCACAGGTAGAAAAAGCC	0.453																																																0													114.0	99.0	104.0					1																	158687191		2203	4300	6503	SO:0001583	missense	391114			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.763A>C	1.37:g.158687191T>G	ENSP00000357128:p.Thr255Pro		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37		.	.	.	.	.	.	.	.	.	.	T	26.8	4.771480	0.90108	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.42131	0.98;0.98	3.77	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64778	0.2629	H	0.96861	3.895	0.41614	D	0.988924	D	0.89917	1.0	D	0.97110	1.0	T	0.70995	-0.4720	9	0.87932	D	0	.	8.2915	0.31960	0.0:0.0997:0.0:0.9003	.	255	Q8NGY3	OR6K3_HUMAN	P	239;255	ENSP00000357127:T239P;ENSP00000357128:T255P	ENSP00000357127:T239P	T	-	1	0	OR6K3	156953815	1.000000	0.71417	0.297000	0.24988	0.928000	0.56348	3.783000	0.55409	0.609000	0.30018	0.383000	0.25322	ACC		0.453	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				26	33	26	33
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	176863937	176863937	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:176863937G>A	ENST00000367654.3	-	17	2936	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	ASTN1_ENST00000424564.2_Missense_Mutation_p.R901W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R901W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R901W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	909					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCTTTCCCGCTCCTCAGAC	0.532																																																0													106.0	108.0	107.0					1																	176863937		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2725C>T	1.37:g.176863937G>A	ENSP00000356626:p.Arg909Trp		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	G	25.7	4.661076	0.88154	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15487	2.42;2.83;2.83;2.42	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.04128	-1.0975	10	0.66056	D	0.02	-27.2066	18.8334	0.92150	0.0:0.0:1.0:0.0	.	901;901	O14525-2;B1AJS1	.;.	W	901;901;909;901;901	ENSP00000356629:R901W;ENSP00000354536:R901W;ENSP00000356626:R909W;ENSP00000395041:R901W	ENSP00000354536:R901W	R	-	1	2	ASTN1	175130560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.774000	0.62339	2.640000	0.89533	0.655000	0.94253	CGG		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		60	105	60	105
AGBL5	60509	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	27278054	27278054	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:27278054C>T	ENST00000360131.4	+	6	1000	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R281C|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	281					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAACCCTCCGTCGCCTCTT	0.557																																																0													150.0	146.0	148.0					2																	27278054		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.841C>T	2.37:g.27278054C>T	ENSP00000353249:p.Arg281Cys		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	31	5.065486	0.93898	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.11712	2.75;2.75	6.11	6.11	0.99139	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.40813	-0.9543	10	0.87932	D	0	-10.4938	15.0949	0.72226	0.1417:0.8583:0.0:0.0	.	281;281;281	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	C	281	ENSP00000323681:R281C;ENSP00000353249:R281C	ENSP00000323681:R281C	R	+	1	0	AGBL5	27131558	0.999000	0.42202	0.992000	0.48379	0.996000	0.88848	1.867000	0.39499	2.906000	0.99361	0.655000	0.94253	CGT		0.557	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		42	79	42	79
PSD4	23550	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	113950108	113950108	+	Missense_Mutation	SNP	C	C	T	rs117870995	byFrequency	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:113950108C>T	ENST00000245796.6	+	6	1975	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	PSD4_ENST00000441564.3_Missense_Mutation_p.R566C	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	594	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.R594C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGGCCTCACGCCTCTATCG	0.597													c|||	10	0.00199681	0.0	0.0	5008	,	,		20368	0.0089		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)											117.0	115.0	116.0					2																	113950108		2203	4300	6503	SO:0001583	missense	23550			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1780C>T	2.37:g.113950108C>T	ENSP00000245796:p.Arg594Cys		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	CCDS33276.1	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	c	20.1	3.938747	0.73557	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.54071	0.59;0.59	5.55	4.64	0.57946	SEC7-like (4);	0.123933	0.53938	D	0.000056	T	0.62792	0.2457	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.987;0.983;0.99	T	0.70299	-0.4910	10	0.87932	D	0	.	11.6083	0.51045	0.3082:0.6918:0.0:0.0	.	252;566;594	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	C	594;566	ENSP00000245796:R594C;ENSP00000413997:R566C	ENSP00000245796:R594C	R	+	1	0	PSD4	113666579	0.103000	0.21917	0.970000	0.41538	0.938000	0.57974	0.466000	0.22019	2.623000	0.88846	0.558000	0.71614	CGC		0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		23	50	23	50
PDE11A	50940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	178936632	178936632	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:178936632G>A	ENST00000286063.6	-	1	850	c.533C>T	c.(532-534)tCg>tTg	p.S178L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	178					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ATTCACTCTCGATTCCAGCAG	0.537									Primary Pigmented Nodular Adrenocortical Disease, Familial																																							0													80.0	77.0	78.0					2																	178936632		2203	4300	6503	SO:0001583	missense	50940	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.533C>T	2.37:g.178936632G>A	ENSP00000286063:p.Ser178Leu		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979764	0.74360	.	.	ENSG00000128655	ENST00000286063	T	0.70164	-0.46	5.13	5.13	0.70059	.	0.455521	0.25394	N	0.030989	T	0.61813	0.2377	L	0.55990	1.75	0.80722	D	1	D	0.59357	0.985	B	0.38880	0.284	T	0.68021	-0.5519	10	0.48119	T	0.1	.	17.5622	0.87910	0.0:0.0:1.0:0.0	.	178	Q9HCR9	PDE11_HUMAN	L	178	ENSP00000286063:S178L	ENSP00000286063:S178L	S	-	2	0	PDE11A	178644878	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	9.257000	0.95545	2.392000	0.81423	0.655000	0.94253	TCG		0.537	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			37	66	37	66
COL6A3	1293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	238277603	238277603	+	Silent	SNP	G	G	A	rs115551245		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:238277603G>A	ENST00000295550.4	-	10	4955	c.4503C>T	c.(4501-4503)gaC>gaT	p.D1501D	COL6A3_ENST00000472056.1_Silent_p.D894D|COL6A3_ENST00000346358.4_Silent_p.D1301D|COL6A3_ENST00000353578.4_Silent_p.D1295D|COL6A3_ENST00000347401.3_Silent_p.D1300D|COL6A3_ENST00000409809.1_Silent_p.D1295D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1501	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCGTATGGCGTCCAGCACCG	0.557																																																0								A	,,	0,4406		0,0,2203	48.0	49.0	49.0		4503,2682,3885	-10.7	0.0	2	dbSNP_132	49	1,8599	819.0+/-406.8	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1501/3178,894/2571,1295/2972	238277603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4503C>T	2.37:g.238277603G>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		17	24	17	24
ROBO2	6092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	77614192	77614192	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:77614192C>T	ENST00000461745.1	+	12	2670	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	ROBO2_ENST00000332191.8_Silent_p.I590I|ROBO2_ENST00000487694.3_Silent_p.I606I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	590	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAATACAATCTACTTATTCA	0.507																																																0													109.0	108.0	108.0					3																	77614192		1982	4166	6148	SO:0001819	synonymous_variant	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1770C>T	3.37:g.77614192C>T			O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1																																																																																				0.507	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		15	44	15	44
SI	6476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	164730794	164730794	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:164730794T>C	ENST00000264382.3	-	34	4098	c.4036A>G	c.(4036-4038)Act>Gct	p.T1346A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1346	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCGTTAGAGTTTTATCTATT	0.328										HNSCC(35;0.089)																																						0													128.0	126.0	127.0					3																	164730794		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4036A>G	3.37:g.164730794T>C	ENSP00000264382:p.Thr1346Ala		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667348	0.29604	.	.	ENSG00000090402	ENST00000264382	D	0.88354	-2.37	4.54	3.31	0.37934	Glycoside hydrolase, superfamily (1);	0.644790	0.15487	N	0.259747	T	0.81912	0.4923	L	0.29908	0.895	0.09310	N	0.99999	B	0.16166	0.016	B	0.23018	0.043	T	0.74127	-0.3765	10	0.72032	D	0.01	.	8.452	0.32877	0.358:0.0:0.0:0.642	.	1346	P14410	SUIS_HUMAN	A	1346	ENSP00000264382:T1346A	ENSP00000264382:T1346A	T	-	1	0	SI	166213488	0.033000	0.19621	0.911000	0.35937	0.581000	0.36288	0.552000	0.23376	1.876000	0.54355	0.477000	0.44152	ACT		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		25	77	25	77
SENP5	205564	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	196654715	196654715	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:196654715G>A	ENST00000323460.5	+	8	2320	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SENP5_ENST00000419026.1_Missense_Mutation_p.E181K|SENP5_ENST00000445299.2_Missense_Mutation_p.E645K	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	691	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAATAGACCTGAATTTCTTCA	0.413																																					Ovarian(47;891 1095 11174 13858 51271)											0													60.0	61.0	60.0					3																	196654715		2203	4300	6503	SO:0001583	missense	205564			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.2071G>A	3.37:g.196654715G>A	ENSP00000327197:p.Glu691Lys		B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200963	0.79015	.	.	ENSG00000119231	ENST00000323460;ENST00000445299;ENST00000419026	T;T;T	0.30182	1.58;1.54;1.58	5.65	5.65	0.86999	.	0.229839	0.45606	D	0.000352	T	0.46014	0.1371	L	0.39147	1.195	0.53005	D	0.999964	D;D	0.63046	0.99;0.992	P;D	0.63113	0.87;0.911	T	0.21415	-1.0246	10	0.52906	T	0.07	-18.8059	17.5958	0.88011	0.0:0.0:1.0:0.0	.	645;691	B4DY82;Q96HI0	.;SENP5_HUMAN	K	691;645;181	ENSP00000327197:E691K;ENSP00000390231:E645K;ENSP00000396927:E181K	ENSP00000327197:E691K	E	+	1	0	SENP5	198139112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.268000	0.78473	2.836000	0.97738	0.655000	0.94253	GAA		0.413	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		26	27	26	27
TLR6	10333	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A	rs374845111		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:38830190G>A	ENST00000381950.1	-	1	970	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_ENST00000436693.2_Missense_Mutation_p.T302M			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	302					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						TTTCAATGTCGTTTTAGAATA	0.323																																																0								G	MET/THR	0,4404		0,0,2202	60.0	63.0	62.0		905	5.5	0.1	4		62	1,8597	1.2+/-3.3	0,1,4298	no	missense	TLR6	NM_006068.4	81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	302/797	38830190	1,13001	2202	4299	6501	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.905C>T	4.37:g.38830190G>A	ENSP00000371376:p.Thr302Met		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813939	0.50527	0.0	1.16E-4	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.09350	2.99;2.99	5.5	5.5	0.81552	.	0.097074	0.45361	D	0.000368	T	0.37404	0.1002	M	0.86178	2.8	0.40044	D	0.975696	D	0.89917	1.0	D	0.69142	0.962	T	0.33163	-0.9879	10	0.87932	D	0	.	16.1107	0.81261	0.0:0.0:1.0:0.0	.	302	Q9Y2C9	TLR6_HUMAN	M	302	ENSP00000389600:T302M;ENSP00000371376:T302M	ENSP00000371376:T302M	T	-	2	0	TLR6	38506585	0.100000	0.21855	0.082000	0.20525	0.480000	0.33159	1.269000	0.33074	2.584000	0.87258	0.491000	0.48974	ACG		0.323	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			11	25	11	25
SNCA	6622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	90743488	90743488	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:90743488G>A	ENST00000394986.1	-	4	636	c.215C>T	c.(214-216)aCg>aTg	p.T72M	SNCA_ENST00000508895.1_Missense_Mutation_p.T72M|SNCA_ENST00000345009.4_Missense_Mutation_p.T72M|SNCA_ENST00000336904.3_Missense_Mutation_p.T72M|SNCA_ENST00000394989.2_Missense_Mutation_p.T58M|SNCA_ENST00000420646.2_Missense_Mutation_p.T72M|SNCA_ENST00000506244.1_Missense_Mutation_p.T72M|SNCA_ENST00000394991.3_Missense_Mutation_p.T72M|SNCA_ENST00000505199.1_Missense_Mutation_p.T58M|SNCA_ENST00000502987.1_Missense_Mutation_p.T72M			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	72					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		TGTCACACCCGTCACCACTGC	0.502																																																0													205.0	143.0	164.0					4																	90743488		2203	4300	6503	SO:0001583	missense	6622			L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.215C>T	4.37:g.90743488G>A	ENSP00000378437:p.Thr72Met		A8K2A4|Q13701|Q4JHI3|Q6IAU6	Missense_Mutation	SNP	ENST00000394986.1	37	CCDS3634.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287041	0.80803	.	.	ENSG00000145335	ENST00000394989;ENST00000420646;ENST00000345009;ENST00000394986;ENST00000394991;ENST00000336904;ENST00000508895;ENST00000506244;ENST00000505199;ENST00000502987	D;D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	L	0.43152	1.355	0.53688	D	0.999971	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.984;0.996;0.996	D	0.89435	0.3719	10	0.87932	D	0	-22.3983	17.8861	0.88855	0.0:0.0:1.0:0.0	.	58;72;72	P37840-3;P37840;P37840-2	.;SYUA_HUMAN;.	M	58;72;72;72;72;72;72;72;58;72	ENSP00000378440:T58M;ENSP00000396241:T72M;ENSP00000343683:T72M;ENSP00000378437:T72M;ENSP00000378442:T72M;ENSP00000338345:T72M;ENSP00000426955:T72M;ENSP00000422238:T72M;ENSP00000421485:T58M;ENSP00000426034:T72M	ENSP00000338345:T72M	T	-	2	0	SNCA	90962511	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.160000	0.71862	2.622000	0.88805	0.563000	0.77884	ACG		0.502	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253547.2			15	25	15	25
NDST3	9348	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	119064828	119064828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119064828G>A	ENST00000296499.5	+	6	1931	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	NDST3_ENST00000433996.2_Missense_Mutation_p.V429I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	510	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCACTGTCGTCCTCAACCC	0.428																																																0													60.0	59.0	59.0					4																	119064828		2203	4300	6503	SO:0001583	missense	9348			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1528G>A	4.37:g.119064828G>A	ENSP00000296499:p.Val510Ile		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	7.457	0.643914	0.14451	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.45668	1.2;0.89	5.03	1.83	0.25207	.	0.140166	0.48286	D	0.000198	T	0.27384	0.0672	L	0.34521	1.04	0.26803	N	0.969165	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.15122	-1.0448	10	0.46703	T	0.11	.	6.2367	0.20766	0.2743:0.1326:0.5932:0.0	.	429;510	B4DI67;O95803	.;NDST3_HUMAN	I	510;429	ENSP00000296499:V510I;ENSP00000396625:V429I	ENSP00000296499:V510I	V	+	1	0	NDST3	119284276	0.996000	0.38824	0.972000	0.41901	0.107000	0.19398	2.802000	0.47916	0.621000	0.30232	-0.137000	0.14449	GTC		0.428	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		15	36	15	36
PRSS12	8492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	119216148	119216148	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119216148C>T	ENST00000296498.3	-	11	2267	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E	PRSS12_ENST00000510903.1_Intron	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	662	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAGCGTAGCCCCGCAGAGGAG	0.532																																																0													64.0	62.0	63.0					4																	119216148		2203	4300	6503	SO:0001583	missense	8492			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1985G>A	4.37:g.119216148C>T	ENSP00000296498:p.Gly662Glu		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626895	0.87560	.	.	ENSG00000164099	ENST00000296498	D	0.94046	-3.34	5.76	4.92	0.64577	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.209295	0.50627	N	0.000109	D	0.98150	0.9389	H	0.98818	4.34	0.53005	D	0.999962	D	0.89917	1.0	D	0.80764	0.994	D	0.99513	1.0956	10	0.87932	D	0	.	15.0746	0.72066	0.0:0.932:0.0:0.068	.	662	P56730	NETR_HUMAN	E	662	ENSP00000296498:G662E	ENSP00000296498:G662E	G	-	2	0	PRSS12	119435596	1.000000	0.71417	0.992000	0.48379	0.814000	0.46013	7.380000	0.79704	1.584000	0.49913	0.655000	0.94253	GGG		0.532	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			12	17	12	17
RAPGEF6	51735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	130766884	130766884	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:130766884C>T	ENST00000509018.1	-	26	4338	c.4133G>A	c.(4132-4134)aGc>aAc	p.S1378N	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1428N|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1391N|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1386N|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1386N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1378	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTTGGAAGGCTTTGGAAGTT	0.443																																					Melanoma(168;435 1955 13113 13877 23213)											0													106.0	109.0	108.0					5																	130766884		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4133G>A	5.37:g.130766884C>T	ENSP00000421684:p.Ser1378Asn		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710041	0.30322	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.26660	1.82;1.72;1.72;1.81;1.91	5.11	-0.379	0.12493	.	0.212671	0.56097	N	0.000024	T	0.10465	0.0256	N	0.10874	0.06	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.10450	0.001;0.001;0.003;0.002;0.005	T	0.13926	-1.0491	10	0.29301	T	0.29	.	5.637	0.17542	0.0:0.2302:0.1668:0.603	.	1386;1386;1428;1391;1378	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	N	1378;1391;1386;1386;1391;1428	ENSP00000421684:S1378N;ENSP00000309298:S1391N;ENSP00000426081:S1386N;ENSP00000296859:S1386N;ENSP00000426948:S1428N	ENSP00000426948:S1428N	S	-	2	0	RAPGEF6;FNIP1	130794783	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.558000	0.23469	0.037000	0.15575	0.655000	0.94253	AGC		0.443	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		22	67	22	67
PCDHGB4	8641	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140769049	140769049	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:140769049G>A	ENST00000519479.1	+	1	1598	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCCCGCGACCAGGGC	0.677																																																0													32.0	38.0	36.0					5																	140769049		2039	4199	6238	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1598G>A	5.37:g.140769049G>A	ENSP00000428288:p.Arg533His		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.337503	0.81911	.	.	ENSG00000253953	ENST00000519479	T	0.54479	0.57	5.05	4.17	0.49024	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.59487	0.2197	M	0.75777	2.31	0.28575	N	0.910433	D;D	0.56287	0.969;0.975	P;P	0.52424	0.626;0.698	T	0.59295	-0.7481	9	0.59425	D	0.04	.	5.3366	0.15961	0.2868:0.0:0.7132:0.0	.	533;533	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	533	ENSP00000428288:R533H	ENSP00000428288:R533H	R	+	2	0	PCDHGB4	140749233	0.001000	0.12720	1.000000	0.80357	0.969000	0.65631	1.308000	0.33528	2.503000	0.84419	0.563000	0.77884	CGC		0.677	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		23	19	23	19
GRIA1	2890	hgsc.bcm.edu;ucsc.edu	37	5	153174271	153174271	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:153174271C>T	ENST00000285900.5	+	14	2704	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518783.1_Silent_p.C797C|GRIA1_ENST00000518142.1_Silent_p.C707C|GRIA1_ENST00000521843.2_Silent_p.C718C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	787					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGGGCGAGTGCGGCAGCGGGG	0.458																																																0													55.0	57.0	56.0					5																	153174271		2203	4300	6503	SO:0001819	synonymous_variant	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2361C>T	5.37:g.153174271C>T			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.458	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			10	28	10	28
FAM71B	153745	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	156589604	156589604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:156589604C>T	ENST00000302938.4	-	2	1767	c.1672G>A	c.(1672-1674)Gta>Ata	p.V558I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	558						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGATATCTACCTCTCTGTCA	0.483																																																0													260.0	253.0	256.0					5																	156589604		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1672G>A	5.37:g.156589604C>T	ENSP00000305596:p.Val558Ile		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291237	0.23564	.	.	ENSG00000170613	ENST00000302938	T	0.18960	2.18	3.87	2.07	0.26955	.	0.494937	0.15405	N	0.264095	T	0.20047	0.0482	M	0.66939	2.045	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.21381	-1.0247	10	0.51188	T	0.08	-13.9884	4.8121	0.13349	0.211:0.6785:0.0:0.1105	.	558	Q8TC56	FA71B_HUMAN	I	558	ENSP00000305596:V558I	ENSP00000305596:V558I	V	-	1	0	FAM71B	156522182	0.000000	0.05858	0.106000	0.21319	0.044000	0.14063	-1.092000	0.03366	0.584000	0.29591	0.655000	0.94253	GTA		0.483	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		61	156	61	156
PKHD1	5314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	51889804	51889804	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr6:51889804T>G	ENST00000371117.3	-	32	5079	c.4804A>C	c.(4804-4806)Aac>Cac	p.N1602H	PKHD1_ENST00000340994.4_Missense_Mutation_p.N1602H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1602	IPT/TIG 11.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACGTGGTGTTCTGTCCTCTC	0.498																																																0													144.0	129.0	134.0					6																	51889804		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4804A>C	6.37:g.51889804T>G	ENSP00000360158:p.Asn1602His		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554771	0.45487	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90069	-2.61;-2.61	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.203128	0.42964	D	0.000623	D	0.90480	0.7018	L	0.59436	1.845	0.23174	N	0.998176	B;D	0.67145	0.336;0.996	B;D	0.68943	0.268;0.961	D	0.85983	0.1484	10	0.72032	D	0.01	.	14.5525	0.68078	0.0:0.0:0.0:1.0	.	1602;1602	P08F94-2;P08F94	.;PKHD1_HUMAN	H	1602	ENSP00000360158:N1602H;ENSP00000341097:N1602H	ENSP00000341097:N1602H	N	-	1	0	PKHD1	51997763	0.994000	0.37717	0.271000	0.24616	0.254000	0.26022	3.532000	0.53553	2.035000	0.60131	0.528000	0.53228	AAC		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		28	70	28	70
CHN2	1124	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	29535576	29535576	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:29535576G>A	ENST00000222792.6	+	8	1193	c.663G>A	c.(661-663)acG>acA	p.T221T	CHN2_ENST00000424025.2_Silent_p.T40T|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Silent_p.T77T|CHN2_ENST00000409041.4_Silent_p.T85T|CHN2_ENST00000421775.2_Silent_p.T85T|CHN2_ENST00000495789.2_Silent_p.T234T|CHN2_ENST00000539406.1_Silent_p.T296T|CHN2_ENST00000546235.1_Silent_p.T206T|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Silent_p.T85T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	221					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGGTCCACACGTTCCGAGGCC	0.483																																					Ovarian(1;44 48 13232 18918 31480)											0													74.0	70.0	71.0					7																	29535576		2203	4300	6503	SO:0001819	synonymous_variant	1124			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.663G>A	7.37:g.29535576G>A			A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	CCDS5420.1																																																																																				0.483	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		29	51	29	51
HECW1	23072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	43581598	43581598	+	Splice_Site	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:43581598G>C	ENST00000395891.2	+	26	4853		c.e26+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTTTGGACAGGTTTGTGTGAC	0.368																																																0													162.0	152.0	155.0					7																	43581598		1882	4113	5995	SO:0001630	splice_region_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4248+1G>C	7.37:g.43581598G>C			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793231	0.90453	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43548123	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.443000	0.97568	2.817000	0.96982	0.563000	0.77884	.		0.368	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	Intron	27	148	27	148
WBSCR17	64409	hgsc.bcm.edu;broad.mit.edu	37	7	70597851	70597851	+	Silent	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:70597851C>T	ENST00000333538.5	+	1	697	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	21					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGCCGGCTTCGTGCTCTTCC	0.672																																																0													53.0	49.0	50.0					7																	70597851		2202	4300	6502	SO:0001819	synonymous_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.63C>T	7.37:g.70597851C>T			Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	CCDS5540.1																																																																																				0.672	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		3	20	3	20
HGF	3082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	81339500	81339500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:81339500G>A	ENST00000222390.5	-	13	1730	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	HGF_ENST00000457544.2_Nonsense_Mutation_p.R497*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	502	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTTTGTTCGTGTTGGAATC	0.348																																																0													157.0	135.0	142.0					7																	81339500		2203	4300	6503	SO:0001587	stop_gained	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1504C>T	7.37:g.81339500G>A	ENSP00000222390:p.Arg502*		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	38	6.739633	0.97801	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	.	.	.	5.2	4.3	0.51218	.	0.575401	0.19535	N	0.111942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	15.2668	0.73669	0.0:0.0:0.8583:0.1417	.	.	.	.	X	502;497	.	ENSP00000222390:R502X	R	-	1	2	HGF	81177436	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.007000	0.49536	1.275000	0.44379	0.557000	0.71058	CGA		0.348	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		19	86	19	86
EPHB6	2051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	142563850	142563850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:142563850G>T	ENST00000392957.2	+	9	2025	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	EPHB6_ENST00000442129.1_Missense_Mutation_p.R413L|EPHB6_ENST00000411471.2_Missense_Mutation_p.R136L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	413	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGAAGGCCGCCAGGAACCT	0.637																																																0													36.0	31.0	33.0					7																	142563850		2203	4299	6502	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1238G>T	7.37:g.142563850G>T	ENSP00000376684:p.Arg413Leu		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	5.092	0.202634	0.09652	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.97455	-4.39;-4.39;-4.39	4.53	-2.83	0.05769	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.357460	0.04842	N	0.440718	D	0.90834	0.7121	N	0.14661	0.345	0.09310	N	1	B	0.22346	0.068	B	0.21708	0.036	T	0.81942	-0.0702	10	0.54805	T	0.06	.	1.308	0.02092	0.4935:0.1783:0.1935:0.1348	.	413	O15197	EPHB6_HUMAN	L	413;413;136	ENSP00000376684:R413L;ENSP00000410789:R413L;ENSP00000409061:R136L	ENSP00000376684:R413L	R	+	2	0	EPHB6	142273972	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-1.207000	0.03008	-0.734000	0.04843	-1.244000	0.01528	CGC		0.637	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			7	8	7	8
OR2A5	393046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	143747664	143747664	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:143747664C>A	ENST00000408906.2	+	1	204	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGCACACCCCCATGTACTTC	0.502																																																0													88.0	91.0	90.0					7																	143747664		2201	4300	6501	SO:0001583	missense	393046			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.170C>A	7.37:g.143747664C>A	ENSP00000386208:p.Pro57His		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764697	0.49574	.	.	ENSG00000221836	ENST00000408906	T	0.02050	4.48	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22166	0.0534	H	0.97440	4.005	0.46396	D	0.999028	D	0.76494	0.999	D	0.66716	0.946	T	0.27297	-1.0078	9	0.87932	D	0	.	16.4371	0.83880	0.0:1.0:0.0:0.0	.	57	Q96R48	OR2A5_HUMAN	H	57	ENSP00000386208:P57H	ENSP00000386208:P57H	P	+	2	0	OR2A5	143378597	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	5.712000	0.68407	2.740000	0.93945	0.650000	0.86243	CCC		0.502	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			42	79	42	79
ABCF2	10061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	150921894	150921894	+	Missense_Mutation	SNP	C	C	T	rs202116091		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:150921894C>T	ENST00000287844.2	-	3	444	c.335G>A	c.(334-336)cGt>cAt	p.R112H	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.R112H	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	112	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCATAACGACGGCCTGAGTT	0.463																																																0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	83.0	87.0		335,335	5.8	1.0	7		87	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ABCF2	NM_005692.3,NM_007189.1	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	112/635,112/624	150921894	2,13004	2203	4300	6503	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.335G>A	7.37:g.150921894C>T	ENSP00000287844:p.Arg112His		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170933	0.94807	2.27E-4	1.16E-4	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;T;T	0.93953	-3.32;-3.32;3.85;3.85	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	L	0.59912	1.85	0.80722	D	1	P;P	0.50943	0.94;0.94	P;P	0.44772	0.46;0.46	D	0.92316	0.5862	10	0.44086	T	0.13	-0.8847	17.2385	0.87006	0.0:1.0:0.0:0.0	.	112;112	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	H	112	ENSP00000222388:R112H;ENSP00000287844:R112H;ENSP00000419720:R112H;ENSP00000395785:R112H	ENSP00000222388:R112H	R	-	2	0	ABCF2	150552827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.549000	0.82163	2.746000	0.94184	0.655000	0.94253	CGT		0.463	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		14	43	14	43
GRHL2	79977	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	102585973	102585973	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr8:102585973A>G	ENST00000251808.3	+	6	1150	c.812A>G	c.(811-813)aAc>aGc	p.N271S	GRHL2_ENST00000395927.1_Missense_Mutation_p.N255S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	271					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTACCTCAACAAAGGACAG	0.522																																																0													85.0	71.0	76.0					8																	102585973		2203	4300	6503	SO:0001583	missense	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.812A>G	8.37:g.102585973A>G	ENSP00000251808:p.Asn271Ser		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.867682	0.91587	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.45668	0.89;0.89	5.8	5.8	0.92144	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.76990	-0.2754	10	0.72032	D	0.01	-51.2841	16.1475	0.81580	1.0:0.0:0.0:0.0	.	271;271	B4DL28;Q6ISB3	.;GRHL2_HUMAN	S	271;255;271	ENSP00000251808:N271S;ENSP00000379260:N255S	ENSP00000251808:N271S	N	+	2	0	GRHL2	102655149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.307000	0.96226	2.213000	0.71641	0.528000	0.53228	AAC		0.522	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		16	28	16	28
TSC1	7248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	135798758	135798758	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr9:135798758G>A	ENST00000298552.3	-	6	706	c.485C>T	c.(484-486)tCa>tTa	p.S162L	TSC1_ENST00000403810.1_Missense_Mutation_p.S162L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.S162L|TSC1_ENST00000545250.1_Missense_Mutation_p.S111L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	162					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCACCATGATGACAGACGGCC	0.433			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	0													139.0	115.0	123.0					9																	135798758		2203	4300	6503	SO:0001583	missense	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.485C>T	9.37:g.135798758G>A	ENSP00000298552:p.Ser162Leu		B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619112	0.87460	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.25	5.25	0.73442	.	0.058043	0.64402	D	0.000002	D	0.89417	0.6709	N	0.25485	0.75	0.49299	D	0.999778	D;P;P;P;P;B	0.54047	0.964;0.943;0.93;0.93;0.947;0.153	P;P;P;P;P;B	0.59288	0.764;0.855;0.559;0.559;0.659;0.235	D	0.88549	0.3115	10	0.33940	T	0.23	-10.6258	17.8523	0.88751	0.0:0.0:1.0:0.0	.	41;111;162;162;162;162	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	L	162;162;111;41;41;162	ENSP00000298552:S162L;ENSP00000394524:S162L;ENSP00000444017:S111L;ENSP00000438099:S41L;ENSP00000386093:S162L	ENSP00000298552:S162L	S	-	2	0	TSC1	134788579	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.209000	0.95087	2.462000	0.83206	0.655000	0.94253	TCA		0.433	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			17	38	17	38
PHKA2	5256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	18912471	18912471	+	Missense_Mutation	SNP	G	G	C	rs368131175		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:18912471G>C	ENST00000379942.4	-	32	4053	c.3388C>G	c.(3388-3390)Cgc>Ggc	p.R1130G	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1130					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R1130C(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCGGCACGCGGTTCAGCACC	0.602																																																1	Substitution - Missense(1)	endometrium(1)											92.0	71.0	78.0					X																	18912471		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3388C>G	X.37:g.18912471G>C	ENSP00000369274:p.Arg1130Gly		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778027	0.90195	.	.	ENSG00000044446	ENST00000379942	D	0.91237	-2.81	5.37	5.37	0.77165	.	0.047076	0.85682	D	0.000000	D	0.89093	0.6617	L	0.55481	1.735	0.51767	D	0.999932	B	0.29378	0.243	B	0.27076	0.076	D	0.87764	0.2600	10	0.62326	D	0.03	-9.2241	18.2058	0.89854	0.0:0.0:1.0:0.0	.	1130	P46019	KPB2_HUMAN	G	1130	ENSP00000369274:R1130G	ENSP00000369274:R1130G	R	-	1	0	PHKA2	18822392	1.000000	0.71417	0.994000	0.49952	0.670000	0.39368	7.878000	0.87231	2.236000	0.73375	0.529000	0.55759	CGC		0.602	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		20	43	20	43
CYBB	1536	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	37660587	37660587	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:37660587G>C	ENST00000378588.4	+	8	950	c.883G>C	c.(883-885)Gtg>Ctg	p.V295L	CYBB_ENST00000545017.1_Missense_Mutation_p.V263L|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000536160.1_Missense_Mutation_p.V28L|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	295	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TCAACAGAAGGTGGTCATCAC	0.418																																																0													331.0	285.0	300.0					X																	37660587		2202	4300	6502	SO:0001583	missense	1536			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.883G>C	X.37:g.37660587G>C	ENSP00000367851:p.Val295Leu		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971566	0.92919	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.92805	-3.11;-3.11;-3.11	5.91	5.91	0.95273	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	M	0.63169	1.94	0.80722	D	1	P;D	0.89917	0.911;1.0	P;D	0.87578	0.674;0.998	D	0.95433	0.8518	10	0.59425	D	0.04	.	19.2199	0.93791	0.0:0.0:1.0:0.0	.	263;295	F5GWD2;P04839	.;CY24B_HUMAN	L	295;263;28	ENSP00000367851:V295L;ENSP00000441896:V263L;ENSP00000441958:V28L	ENSP00000367851:V295L	V	+	1	0	CYBB	37545527	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.429000	0.97481	2.491000	0.84063	0.594000	0.82650	GTG		0.418	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			95	168	95	168
BCOR	54880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	39933842	39933843	+	Nonsense_Mutation	DNP	CG	CG	TT			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933842_39933843CG>TT	ENST00000378444.4	-	4	984_985	c.756_757CG>AA	c.(754-759)taCGtc>taAAtc	p.252_253YV>*I	BCOR_ENST00000378455.4_Nonsense_Mutation_p.252_253YV>*I|BCOR_ENST00000342274.4_Nonsense_Mutation_p.252_253YV>*I|BCOR_ENST00000397354.3_Nonsense_Mutation_p.252_253YV>*I	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	252					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGGGACCGACGTAGTGAGGTG	0.609			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001587	stop_gained	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.756_757delinsTT	X.37:g.39933842_39933843delinsTT	ENSP00000367705:p.Y252_V253delins*I		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1																																																																																				0.609	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	20	7	20
PCDH19	57526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	99662058	99662058	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:99662058C>A	ENST00000373034.4	-	1	3213	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	PCDH19_ENST00000255531.7_Missense_Mutation_p.G513V|PCDH19_ENST00000420881.2_Missense_Mutation_p.G513V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	513	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		G -> R (in EIEE9). {ECO:0000269|PubMed:21480887}.		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTAGATGTCGCCTGAGTTGGG	0.587																																																0													99.0	100.0	100.0					X																	99662058		2171	4259	6430	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1538G>T	X.37:g.99662058C>A	ENSP00000362125:p.Gly513Val		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954926	0.53293	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	D;D;D	0.91464	-2.85;-2.85;-2.85	5.64	5.64	0.86602	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	H	0.98487	4.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99218	1.0878	10	0.87932	D	0	.	18.6745	0.91524	0.0:1.0:0.0:0.0	.	513;513;513	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	V	513	ENSP00000400327:G513V;ENSP00000362125:G513V;ENSP00000255531:G513V	ENSP00000255531:G513V	G	-	2	0	PCDH19	99548714	1.000000	0.71417	0.489000	0.27452	0.607000	0.37147	7.818000	0.86416	2.354000	0.79902	0.513000	0.50165	GGC		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		39	66	39	66
SLC25A53	401612	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	103349186	103349186	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:103349186C>A	ENST00000357421.4	-	2	935	c.755G>T	c.(754-756)tGg>tTg	p.W252L		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	252					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GGCAGAGGCCCACAGGCTTGG	0.532																																																0													54.0	46.0	48.0					X																	103349186		2203	4300	6503	SO:0001583	missense	401612				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.755G>T	X.37:g.103349186C>A	ENSP00000361681:p.Trp252Leu		B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	c	5.899	0.350018	0.11182	.	.	ENSG00000176274	ENST00000357421	T	0.75589	-0.95	4.03	4.03	0.46877	Mitochondrial carrier domain (2);	0.352176	0.27336	N	0.019835	T	0.60919	0.2306	L	0.32530	0.975	0.31505	N	0.664296	B	0.21688	0.059	B	0.22753	0.041	T	0.57124	-0.7865	10	0.10902	T	0.67	-26.1831	12.8616	0.57915	0.0:1.0:0.0:0.0	.	252	Q5H9E4	MCAR6_HUMAN	L	252	ENSP00000361681:W252L	ENSP00000361681:W252L	W	-	2	0	MCART6	103235842	0.076000	0.21285	1.000000	0.80357	0.989000	0.77384	0.501000	0.22578	1.979000	0.57680	0.594000	0.82650	TGG		0.532	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		16	32	16	32
AFF2	2334	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	148069037	148069037	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:148069037G>T	ENST00000370460.2	+	20	4243	c.3764G>T	c.(3763-3765)cGg>cTg	p.R1255L	AFF2_ENST00000342251.3_Missense_Mutation_p.R1222L|AFF2_ENST00000370457.5_Missense_Mutation_p.R1220L|AFF2_ENST00000286437.5_Missense_Mutation_p.R896L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1255					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTGTTACGGGGCTATGAA	0.483																																																0													202.0	157.0	173.0					X																	148069037		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3764G>T	X.37:g.148069037G>T	ENSP00000359489:p.Arg1255Leu		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583110	0.86748	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.61	5.61	0.85477	.	0.146690	0.43579	D	0.000557	T	0.76976	0.4063	M	0.72894	2.215	0.49389	D	0.999789	P;D;D;D;D;D	0.89917	0.86;0.99;0.979;1.0;1.0;1.0	P;D;D;D;D;D	0.75484	0.802;0.965;0.948;0.976;0.976;0.986	T	0.72030	-0.4413	10	0.12430	T	0.62	.	18.6955	0.91599	0.0:0.0:1.0:0.0	.	896;1220;1220;1216;1245;1255	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	L	1255;1220;1222;896	ENSP00000359489:R1255L;ENSP00000359486:R1220L;ENSP00000345459:R1222L;ENSP00000286437:R896L	ENSP00000286437:R896L	R	+	2	0	AFF2	147876743	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.727000	0.68523	2.359000	0.80004	0.513000	0.50165	CGG		0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		40	103	40	103
L1CAM	3897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153133300	153133300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:153133300G>A	ENST00000370060.1	-	16	2083	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	L1CAM_ENST00000361981.3_Missense_Mutation_p.R627C|L1CAM_ENST00000370055.1_Missense_Mutation_p.R627C|L1CAM_ENST00000538883.1_Missense_Mutation_p.R634C|L1CAM_ENST00000361699.4_Missense_Mutation_p.R632C|L1CAM_ENST00000370057.3_Missense_Mutation_p.R632C|L1CAM_ENST00000543994.1_Missense_Mutation_p.R634C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	632	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> P (in MASA). {ECO:0000269|PubMed:9452110}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.R632S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACACGCGCACCTGGCTC	0.667																																																1	Substitution - Missense(1)	lung(1)											51.0	47.0	48.0					X																	153133300		2183	4236	6419	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1894C>T	X.37:g.153133300G>A	ENSP00000359077:p.Arg632Cys		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706268	0.68615	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.67	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.469224	0.19219	N	0.119725	T	0.60612	0.2282	L	0.56769	1.78	0.33573	D	0.598808	B;D;P	0.53619	0.418;0.961;0.473	B;P;B	0.54210	0.087;0.745;0.21	T	0.73272	-0.4035	10	0.72032	D	0.01	.	11.7755	0.51983	0.0:0.0:1.0:0.0	.	627;632;632	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	C	632;634;632;634;627;627;632	ENSP00000359077:R632C;ENSP00000438430:R634C;ENSP00000359074:R632C;ENSP00000439645:R634C;ENSP00000354712:R627C;ENSP00000359072:R627C;ENSP00000355380:R632C	ENSP00000355380:R632C	R	-	1	0	L1CAM	152786494	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.848000	0.62874	2.162000	0.67917	0.529000	0.55759	CGC		0.667	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		26	67	26	67
SLC35F3	148641	broad.mit.edu;ucsc.edu	37	1	234041399	234041399	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:234041399G>A	ENST00000366618.3	+	2	323	c.178G>A	c.(178-180)Gtg>Atg	p.V60M		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	401					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.V60L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCGCGCTCCGTGGAGGATCT	0.642																																																1	Substitution - Missense(1)	lung(1)											69.0	70.0	70.0					1																	234041399		2203	4300	6503	SO:0001583	missense	148641				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.178G>A	1.37:g.234041399G>A	ENSP00000355577:p.Val60Met		Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366618.3	37	CCDS1600.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790578	0.70337	.	.	ENSG00000183780	ENST00000366618	T	0.54071	0.59	5.23	5.23	0.72850	.	0.476461	0.22476	N	0.059559	T	0.74015	0.3661	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77477	-0.2573	9	0.87932	D	0	-14.396	17.0273	0.86451	0.0:0.0:1.0:0.0	.	60	Q8IY50-2	.	M	60	ENSP00000355577:V60M	ENSP00000355577:V60M	V	+	1	0	SLC35F3	232108022	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	5.642000	0.67888	2.439000	0.82584	0.536000	0.68110	GTG		0.642	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	NM_173508		25	41	25	41
MT1HL1	645745	broad.mit.edu;ucsc.edu	37	1	237167625	237167625	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:237167625G>A	ENST00000464121.2	-	1	93	c.48C>T	c.(46-48)gcC>gcT	p.A16A		NM_001276687.1	NP_001263616.1	P0DM35	M1BL1_HUMAN	metallothionein 1H-like 1	16	Beta.|Cys-rich.						metal ion binding (GO:0046872)										TGCAGGAGCCGGCGCAGGCGT	0.627																																																0													30.0	32.0	31.0					1																	237167625		692	1591	2283	SO:0001819	synonymous_variant	645745			AF333388	CCDS31068.1	1q43	2013-03-07	2013-03-07	2013-03-07	ENSG00000244020	ENSG00000244020		"""Metallothioneins"""	31864	protein-coding gene	gene with protein product			"""metallothionein 1 pseudogene 2"""	MT1P2			Standard	NM_001276687		Approved		uc001hyk.2	P0DM35	OTTHUMG00000040065	ENST00000464121.2:c.48C>T	1.37:g.237167625G>A				Silent	SNP	ENST00000464121.2	37																																																																																					0.627	MT1HL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096642.4	NM_001039954		8	19	8	19
MIR548I2	100302277	broad.mit.edu;ucsc.edu	37	4	9557805	9557805	+	RNA	SNP	C	C	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:9557805C>T	ENST00000408348.1	-	0	132					NR_031688.1				microRNA 548i-2																		GGATCAGGGACGAACTTTGTT	0.383																																																0													176.0	196.0	190.0					4																	9557805		1568	3582	5150			100302277					4p16.1	2011-09-12		2008-12-18	ENSG00000221275	ENSG00000221275		"""ncRNAs / Micro RNAs"""	35353	non-coding RNA	RNA, micro				MIRN548I2			Standard	NR_031688		Approved	hsa-mir-548i-2	uc021xlt.1				4.37:g.9557805C>T				RNA	SNP	ENST00000408348.1	37																																																																																					0.383	MIR548I2-201	KNOWN	basic	miRNA	miRNA		NR_031688		58	126	58	126
HRNR	388697	broad.mit.edu;ucsc.edu	37	1	152192866	152192866	+	Silent	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152192866G>A	ENST00000368801.2	-	3	1314	c.1239C>T	c.(1237-1239)cgC>cgT	p.R413R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	413					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTTGGCCGCGGCCTGAAG	0.632																																																0													90.0	84.0	86.0					1																	152192866		2203	4300	6503	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1239C>T	1.37:g.152192866G>A			Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	CCDS30859.1																																																																																				0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		6	20	6	20
TFDP3	51270	broad.mit.edu;ucsc.edu	37	X	132351926	132351926	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:132351926G>A	ENST00000310125.4	-	1	450	c.362C>T	c.(361-363)aCg>aTg	p.T121M		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	121		Critical for repression of E2F activity.			cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCTGCACCGTCTCCCAGAC	0.592																																																0													93.0	89.0	90.0					X																	132351926		2203	4300	6503	SO:0001583	missense	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.362C>T	X.37:g.132351926G>A	ENSP00000385461:p.Thr121Met		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	g	6.554	0.470445	0.12461	.	.	ENSG00000183434	ENST00000310125	T	0.22134	1.97	0.226	-0.452	0.12205	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	N	0.08118	0	0.42288	D	0.992126	B	0.20164	0.042	B	0.20184	0.028	T	0.17653	-1.0362	9	0.66056	D	0.02	.	4.192	0.10426	0.0:0.0:0.3532:0.6468	.	121	Q5H9I0	TFDP3_HUMAN	M	121	ENSP00000385461:T121M	ENSP00000385461:T121M	T	-	2	0	TFDP3	132179592	1.000000	0.71417	0.063000	0.19743	0.064000	0.16182	2.795000	0.47861	-0.901000	0.03891	-0.907000	0.02831	ACG		0.592	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		36	85	36	85
LBH	81606	broad.mit.edu;ucsc.edu	37	2	30457270	30457270	+	Splice_Site	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:30457270G>T	ENST00000395323.3	+	2	234		c.e2-1		LBH_ENST00000467242.1_Splice_Site|LBH_ENST00000401506.1_Splice_Site|LBH_ENST00000404397.1_Splice_Site|LBH_ENST00000406087.1_Splice_Site|LBH_ENST00000407930.2_Splice_Site	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGGCAGCCCCGACTAT	0.542																																																0													133.0	112.0	119.0					2																	30457270		2203	4300	6503	SO:0001630	splice_region_variant	81606			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.27-1G>T	2.37:g.30457270G>T			B2RBC2|Q9H0Q1	Splice_Site	SNP	ENST00000395323.3	37	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261502	0.59431	.	.	ENSG00000213626	ENST00000395323;ENST00000406087;ENST00000404397;ENST00000401506	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6316	0.68660	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LBH	30310774	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.091000	0.76923	2.028000	0.59812	0.455000	0.32223	.		0.542	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915	Intron	22	43	22	43
PCLO	27445	broad.mit.edu;ucsc.edu	37	7	82785657	82785657	+	Silent	SNP	C	C	T	rs547486813		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:82785657C>T	ENST00000333891.9	-	2	637	c.300G>A	c.(298-300)ccG>ccA	p.P100P	PCLO_ENST00000423517.2_Silent_p.P100P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCCAGGGTCCGGGGGTCTTC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		13096	0.0		0.0	False		,,,				2504	0.001															0													39.0	39.0	39.0					7																	82785657		1813	4067	5880	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.300G>A	7.37:g.82785657C>T				Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		15	37	15	37
MPPED1	758	broad.mit.edu;ucsc.edu	37	22	43870690	43870690	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:43870690G>A	ENST00000417669.2	+	4	925	c.481G>A	c.(481-483)Gac>Aac	p.D161N	MPPED1_ENST00000538182.1_Missense_Mutation_p.D194N|MPPED1_ENST00000542779.1_Missense_Mutation_p.D161N|MPPED1_ENST00000443721.1_Missense_Mutation_p.D161N|MPPED1_ENST00000439548.1_Missense_Mutation_p.D3N|MPPED1_ENST00000414469.2_Missense_Mutation_p.D55N			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	161							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTTCATGGCCGACCTCATCAA	0.542																																																0													159.0	162.0	161.0					22																	43870690		2108	4226	6334	SO:0001583	missense	758			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.481G>A	22.37:g.43870690G>A	ENSP00000388137:p.Asp161Asn		A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558210	0.86231	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000439548;ENST00000542779;ENST00000538182	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.17	5.17	0.71159	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	L	0.48362	1.52	0.80722	D	1	D;D	0.69078	0.984;0.997	P;P	0.55222	0.459;0.771	T	0.37957	-0.9683	10	0.23302	T	0.38	-62.9334	18.7423	0.91779	0.0:0.0:1.0:0.0	.	194;161	B7Z2S9;O15442	.;MPPD1_HUMAN	N	161;161;139;55;3;161;194	ENSP00000388137:D161N;ENSP00000400686:D161N;ENSP00000388245:D55N;ENSP00000444532:D161N;ENSP00000438335:D194N	ENSP00000388245:D55N	D	+	1	0	MPPED1	42200634	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.533000	0.98059	2.413000	0.81919	0.551000	0.68910	GAC		0.542	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		33	83	33	83
DLGAP5	9787	broad.mit.edu;ucsc.edu	37	14	55619340	55619340	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr14:55619340G>T	ENST00000247191.2	-	16	2305	c.2089C>A	c.(2089-2091)Cct>Act	p.P697T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.P697T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	697					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTAATCCAGGACACTGAGCA	0.323																																																0													92.0	92.0	92.0					14																	55619340		2203	4300	6503	SO:0001583	missense	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2089C>A	14.37:g.55619340G>T	ENSP00000247191:p.Pro697Thr		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823495	0.32237	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.30182	1.54;1.54	3.62	2.71	0.32032	.	0.650444	0.13939	N	0.352312	T	0.21590	0.0520	L	0.34521	1.04	0.18873	N	0.999983	B;B	0.24258	0.047;0.1	B;B	0.21708	0.036;0.022	T	0.15378	-1.0439	10	0.32370	T	0.25	0.0176	8.3875	0.32510	0.0:0.0:0.7661:0.2339	.	697;697	A8MTM6;Q15398	.;DLGP5_HUMAN	T	697	ENSP00000378815:P697T;ENSP00000247191:P697T	ENSP00000247191:P697T	P	-	1	0	DLGAP5	54689093	0.002000	0.14202	0.438000	0.26821	0.710000	0.40934	0.116000	0.15561	1.087000	0.41251	0.650000	0.86243	CCT		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		4	17	4	17
RTP5	285093	broad.mit.edu;ucsc.edu	37	2	242814228	242814228	+	Missense_Mutation	SNP	C	C	T	rs202220121	byFrequency	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:242814228C>T	ENST00000343216.3	+	2	549	c.521C>T	c.(520-522)aCg>aTg	p.T174M		NM_173821.2	NP_776182.2																					TTCCCCGCCACGGCCTGGGGT	0.677													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17159	0.0		0.001	False		,,,				2504	0.0															0													12.0	14.0	13.0					2																	242814228		1997	4130	6127	SO:0001583	missense	285093																														ENST00000343216.3:c.521C>T	2.37:g.242814228C>T	ENSP00000345374:p.Thr174Met			Missense_Mutation	SNP	ENST00000343216.3	37	CCDS42843.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	.	13.13	2.145800	0.37923	.	.	ENSG00000188011	ENST00000343216	T	0.23950	1.88	2.68	-5.37	0.02681	.	.	.	.	.	T	0.10380	0.0254	N	0.08118	0	0.09310	N	1	D	0.67145	0.996	P	0.45037	0.467	T	0.08513	-1.0718	9	0.34782	T	0.22	.	2.6506	0.04998	0.2831:0.1854:0.4217:0.1098	.	174	Q14D33	CB085_HUMAN	M	174	ENSP00000345374:T174M	ENSP00000345374:T174M	T	+	2	0	C2orf85	242462901	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-2.098000	0.01347	-1.547000	0.01715	0.450000	0.29827	ACG		0.677	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			6	6	6	6
CYP4F3	4051	broad.mit.edu;ucsc.edu	37	19	15770103	15770103	+	Missense_Mutation	SNP	G	G	A	rs375318772		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:15770103G>A	ENST00000221307.8	+	13	1518	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	CYP4F3_ENST00000585846.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000586182.2_Missense_Mutation_p.V491I|CYP4F3_ENST00000591058.1_Missense_Mutation_p.V491I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	491					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.V491L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCGCTTCCGCGTCCTGCCTGA	0.672																																																1	Substitution - Missense(1)	lung(1)											25.0	26.0	26.0					19																	15770103		2202	4300	6502	SO:0001583	missense	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1471G>A	19.37:g.15770103G>A	ENSP00000221307:p.Val491Ile		B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	7.132	0.580181	0.13686	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.71341	-0.56	3.48	-3.38	0.04883	.	0.400666	0.19840	U	0.104868	T	0.42630	0.1211	N	0.16743	0.435	0.09310	N	1	B;B;B	0.16166	0.007;0.016;0.016	B;B;B	0.18263	0.021;0.013;0.021	T	0.15578	-1.0432	10	0.23302	T	0.38	.	3.1454	0.06469	0.3987:0.0:0.2947:0.3066	.	201;491;491	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	I	418;491	ENSP00000221307:V491I	ENSP00000221307:V491I	V	+	1	0	CYP4F3	15631103	0.000000	0.05858	0.144000	0.22314	0.276000	0.26787	-0.195000	0.09546	-0.461000	0.06993	0.305000	0.20034	GTC		0.672	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		8	19	8	19
PSME4	23198	broad.mit.edu;hgsc.bcm.edu	37	2	54123990	54123990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:54123990delT	ENST00000404125.1	-	32	3694	c.3639delA	c.(3637-3639)aaafs	p.K1213fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.K357fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTTTAGCTGTTTAAGGATAC	0.348																																																0													194.0	204.0	200.0					2																	54123990		2203	4300	6503	SO:0001589	frameshift_variant	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3639delA	2.37:g.54123990delT	ENSP00000384211:p.Lys1213fs		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Del	DEL	ENST00000404125.1	37	CCDS33197.2																																																																																				0.348	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		74	172	74	172
TEX33	339669	broad.mit.edu;hgsc.bcm.edu	37	22	37387528	37387528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:37387528delC	ENST00000405091.2	-	6	990	c.739delG	c.(739-741)gatfs	p.D247fs	TEX33_ENST00000381821.1_Frame_Shift_Del_p.D247fs|TEX33_ENST00000402860.3_Frame_Shift_Del_p.D162fs			O43247	TEX33_HUMAN	testis expressed 33	247																	TTACCCAGATCATCCGTCTTC	0.542																																																0													176.0	145.0	156.0					22																	37387528		2203	4300	6503	SO:0001589	frameshift_variant	339669			BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.739delG	22.37:g.37387528delC	ENSP00000386118:p.Asp247fs		B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Frame_Shift_Del	DEL	ENST00000405091.2	37	CCDS54524.1																																																																																				0.542	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		38	85	38	85
