#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
MUC2	4583	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	1102176	1102176	+	Silent	SNP	C	C	T	rs561940843	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:1102176C>T	ENST00000441003.2	+	44	7839	c.7812C>T	c.(7810-7812)caC>caT	p.H2604H		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4966					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCACCCACGTGCCCTGCA	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		17588	0.0		0.002	False		,,,				2504	0.0															0													95.0	111.0	106.0					11																	1102176		2199	4292	6491	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7812C>T	11.37:g.1102176C>T			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		47	58	47	58
TOLLIP	54472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	1298448	1298448	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:1298448C>T	ENST00000317204.6	-	6	769	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TOLLIP_ENST00000263646.7_Missense_Mutation_p.V188M|TOLLIP_ENST00000527938.1_Silent_p.P73P|TOLLIP_ENST00000527886.1_Missense_Mutation_p.V147M|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V155M|TOLLIP_ENST00000542915.1_Missense_Mutation_p.V166M	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	216					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGCAGGGCCACGGGCACCATG	0.607																																																0													46.0	44.0	45.0					11																	1298448		2202	4298	6500	SO:0001583	missense	54472			AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.646G>A	11.37:g.1298448C>T	ENSP00000314733:p.Val216Met		B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP	ENST00000317204.6	37	CCDS7723.1	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292406	0.10567	.	.	ENSG00000078902	ENST00000317204;ENST00000527886;ENST00000525159;ENST00000263646;ENST00000542915;ENST00000382211;ENST00000530541	T;T;T;T;T;T	0.45668	0.89;0.93;0.93;0.89;0.89;0.96	4.54	-2.23	0.06930	.	0.238465	0.41712	N	0.000822	T	0.09730	0.0239	N	0.02539	-0.55	0.23568	N	0.997393	B;B;B	0.32620	0.378;0.019;0.009	B;B;B	0.18561	0.022;0.006;0.002	T	0.29150	-1.0021	10	0.15066	T	0.55	-22.9221	2.5473	0.04740	0.1137:0.4105:0.1118:0.3641	.	155;166;216	F2Z2Y8;B3KR28;Q9H0E2	.;.;TOLIP_HUMAN	M	216;147;155;188;166;247;166	ENSP00000314733:V216M;ENSP00000434035:V147M;ENSP00000432668:V155M;ENSP00000263646:V188M;ENSP00000437404:V166M;ENSP00000434494:V166M	ENSP00000263646:V188M	V	-	1	0	TOLLIP	1255024	0.002000	0.14202	0.213000	0.23690	0.264000	0.26372	-0.045000	0.12003	-0.063000	0.13065	0.555000	0.69702	GTG		0.607	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2	NM_019009		57	56	57	56
ZNF215	7762	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	6953559	6953559	+	Missense_Mutation	SNP	G	G	A	rs190965831		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:6953559G>A	ENST00000278319.5	+	3	644	c.56G>A	c.(55-57)cGt>cAt	p.R19H	ZNF215_ENST00000529903.1_Missense_Mutation_p.R19H|ZNF215_ENST00000414517.2_Missense_Mutation_p.R19H|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	19					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTGTCTCTACGTGAACAAAGA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20028	0.001		0.0	False		,,,				2504	0.0															0													83.0	86.0	85.0					11																	6953559		2201	4296	6497	SO:0001583	missense	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.56G>A	11.37:g.6953559G>A	ENSP00000278319:p.Arg19His		Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	CCDS7775.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.038	-1.295804	0.01375	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.05649	3.41;3.41;5.95	3.89	-5.69	0.02428	.	1.953120	0.02917	N	0.137380	T	0.01870	0.0059	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40757	-0.9546	10	0.09843	T	0.71	5.6923	3.9576	0.09396	0.1928:0.1466:0.5161:0.1444	.	19;19;19	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	H	19	ENSP00000278319:R19H;ENSP00000393202:R19H;ENSP00000432306:R19H	ENSP00000278319:R19H	R	+	2	0	ZNF215	6910135	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.991000	0.03728	-1.207000	0.02637	-1.286000	0.01371	CGT		0.473	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			49	61	49	61
MRGPRX2	117194	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	19077575	19077575	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:19077575G>A	ENST00000329773.2	-	2	462	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	125					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGCAGCGCTCGGTGCTGACGG	0.602																																					GBM(198;1966 2199 4849 37227 49954)											0													83.0	78.0	80.0					11																	19077575		2199	4293	6492	SO:0001819	synonymous_variant	117194				CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.375C>T	11.37:g.19077575G>A			B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	CCDS7847.1																																																																																				0.602	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		42	72	42	72
AMBRA1	55626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	46419176	46419176	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:46419176G>A	ENST00000458649.2	-	18	4139	c.3721C>T	c.(3721-3723)Cgg>Tgg	p.R1241W	AMBRA1_ENST00000426438.1_Missense_Mutation_p.R1212W|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R1181W|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R1122W|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R1181W|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R1212W|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R1151W			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1241					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGGCTCCCGCCCAGGGGTA	0.672																																																0													53.0	57.0	56.0					11																	46419176		2202	4298	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3721C>T	11.37:g.46419176G>A	ENSP00000415327:p.Arg1241Trp		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	G	12.66	2.003501	0.35320	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.72942	-0.54;-0.7;-0.29;-0.42;-0.29;-0.4;-0.42	4.49	1.39	0.22231	.	0.608753	0.15976	N	0.235541	T	0.61677	0.2366	N	0.24115	0.695	0.29365	N	0.864388	D;D;D;D;D;D	0.63880	0.978;0.987;0.993;0.987;0.987;0.987	B;P;P;P;P;P	0.47744	0.353;0.556;0.556;0.556;0.502;0.556	T	0.61926	-0.6962	10	0.87932	D	0	.	12.4494	0.55669	0.0:0.0:0.5464:0.4536	.	1241;1212;1181;1122;1244;1151	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	W	1151;1122;1181;1212;1181;1241;199;1212	ENSP00000318313:R1151W;ENSP00000433372:R1122W;ENSP00000431926:R1181W;ENSP00000410899:R1212W;ENSP00000298834:R1181W;ENSP00000415327:R1241W;ENSP00000433945:R1212W	ENSP00000298834:R1181W	R	-	1	2	AMBRA1	46375752	0.002000	0.14202	0.796000	0.32109	0.217000	0.24651	1.025000	0.30090	0.321000	0.23259	-0.268000	0.10319	CGG		0.672	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		32	45	32	45
OR5R1	219479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	56185615	56185615	+	Silent	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:56185615A>G	ENST00000312253.1	-	1	93	c.94T>C	c.(94-96)Tta>Cta	p.L32L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TAGATAACTAAAAACACCCCA	0.418																																																0													101.0	107.0	105.0					11																	56185615		2201	4296	6497	SO:0001819	synonymous_variant	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.94T>C	11.37:g.56185615A>G				Silent	SNP	ENST00000312253.1	37	CCDS31530.1																																																																																				0.418	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		55	69	55	69
HEPHL1	341208	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	93796832	93796832	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:93796832G>A	ENST00000315765.9	+	3	582	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	192	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACATCGACGCCCCAAAGGA	0.522																																																0													111.0	109.0	109.0					11																	93796832		1961	4153	6114	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.574G>A	11.37:g.93796832G>A	ENSP00000313699:p.Ala192Thr		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187442	0.78789	.	.	ENSG00000181333	ENST00000315765	D	0.98567	-5.0	5.42	5.42	0.78866	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.050492	0.85682	D	0.000000	D	0.96084	0.8724	L	0.28274	0.84	0.53005	D	0.999963	P	0.50443	0.935	P	0.51170	0.661	D	0.93750	0.7058	10	0.19147	T	0.46	.	10.3764	0.44085	0.1195:0.0:0.8805:0.0	.	192	Q6MZM0	HPHL1_HUMAN	T	192	ENSP00000313699:A192T	ENSP00000313699:A192T	A	+	1	0	HEPHL1	93436480	1.000000	0.71417	0.987000	0.45799	0.851000	0.48451	3.454000	0.52986	2.549000	0.85964	0.655000	0.94253	GCC		0.522	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		65	84	65	84
ADAMTS15	170689	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	130340895	130340895	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:130340895G>A	ENST00000299164.2	+	6	1801	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	601	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CACTCTCGCCGTGGCATGGGT	0.597																																																0													86.0	88.0	87.0					11																	130340895		2201	4297	6498	SO:0001583	missense	170689			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1801G>A	11.37:g.130340895G>A	ENSP00000299164:p.Val601Met		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359987	0.41801	.	.	ENSG00000166106	ENST00000299164	T	0.59502	0.26	5.78	4.68	0.58851	.	.	.	.	.	T	0.46502	0.1396	L	0.33293	1	0.58432	D	0.999998	B	0.26744	0.158	B	0.24541	0.054	T	0.37502	-0.9703	9	0.33141	T	0.24	.	14.5644	0.68165	0.123:0.0:0.877:0.0	.	601	Q8TE58	ATS15_HUMAN	M	601	ENSP00000299164:V601M	ENSP00000299164:V601M	V	+	1	0	ADAMTS15	129846105	1.000000	0.71417	0.948000	0.38648	0.944000	0.59088	5.695000	0.68279	2.717000	0.92951	0.655000	0.94253	GTG		0.597	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		97	129	97	129
CD163	9332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7635288	7635288	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr12:7635288G>A	ENST00000359156.4	-	14	3400	c.3198C>T	c.(3196-3198)gtC>gtT	p.V1066V	CD163_ENST00000541972.1_Silent_p.V1054V|CD163_ENST00000396620.3_Silent_p.V1099V|CD163_ENST00000432237.2_Silent_p.V1066V|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGAATAATGCGACGAAAATGG	0.423																																																0													131.0	139.0	136.0					12																	7635288		2203	4300	6503	SO:0001819	synonymous_variant	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3198C>T	12.37:g.7635288G>A			C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	3.765	-0.048772	0.07407	.	.	ENSG00000177575	ENST00000537626	.	.	.	4.32	-8.64	0.00874	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10132	-1.0643	4	.	.	.	.	4.6012	0.12354	0.6173:0.0861:0.1234:0.1732	.	.	.	.	L	79	.	.	S	-	2	0	CD163	7526555	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.101000	0.00604	-3.309000	0.00190	0.561000	0.74099	TCG		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		61	77	61	77
TRPV4	59341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	110234444	110234444	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr12:110234444G>A	ENST00000418703.2	-	6	1312	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.F372F|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000541794.1_Silent_p.F359F|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000261740.2_Silent_p.F406F|TRPV4_ENST00000392719.2_Silent_p.F359F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	406					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCAGTCCTTGAACTTGCGGG	0.607																																																0													128.0	105.0	113.0					12																	110234444		2203	4300	6503	SO:0001819	synonymous_variant	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1218C>T	12.37:g.110234444G>A			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	CCDS9134.1																																																																																				0.607	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		39	59	39	59
HECTD1	25831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	31576337	31576337	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:31576337G>A	ENST00000399332.1	-	38	7229	c.6741C>T	c.(6739-6741)ttC>ttT	p.F2247F	HECTD1_ENST00000553700.1_Silent_p.F2247F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2247	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAATTCCAAGGAAATGAAACA	0.378																																																0													116.0	110.0	112.0					14																	31576337		1892	4108	6000	SO:0001819	synonymous_variant	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6741C>T	14.37:g.31576337G>A			D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	6.285	0.420781	0.11928	.	.	ENSG00000092148	ENST00000554882	.	.	.	6.06	3.18	0.36537	.	.	.	.	.	T	0.57770	0.2076	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50355	-0.8838	4	.	.	.	-6.7507	8.1639	0.31215	0.3269:0.0:0.6731:0.0	.	.	.	.	F	613	.	.	S	-	2	0	HECTD1	30646088	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.527000	0.45615	0.388000	0.25054	-0.137000	0.14449	TCC		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			51	66	51	66
L2HGDH	79944	hgsc.bcm.edu;broad.mit.edu	37	14	50735882	50735882	+	Splice_Site	SNP	G	G	A	rs118204020		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:50735882G>A	ENST00000267436.4	-	7	1302	c.905C>T	c.(904-906)cCg>cTg	p.P302L	L2HGDH_ENST00000421284.3_Splice_Site_p.P302L|L2HGDH_ENST00000261699.4_Splice_Site_p.P302L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	302			P -> L (in L2HGA). {ECO:0000269|PubMed:15385440, ECO:0000269|PubMed:16134148}.		2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATTACCTACCGGATAAATATT	0.388																																																0			GRCh37	CM042952	L2HGDH	M	rs118204020						64.0	66.0	65.0					14																	50735882		2203	4300	6503	SO:0001630	splice_region_variant	79944				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.906+1C>T	14.37:g.50735882G>A			Q9BRR1	Splice_Site	SNP	ENST00000267436.4	37	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336518	0.95758	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	D;D;D	0.82711	-1.64;-1.64;-1.64	5.57	5.57	0.84162	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.95421	0.8513	H	0.98754	4.32	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96908	0.9665	9	0.87932	D	0	-22.0263	19.9253	0.97100	0.0:0.0:1.0:0.0	.	302;302	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	L	302	ENSP00000261699:P302L;ENSP00000267436:P302L;ENSP00000405559:P302L	ENSP00000261699:P302L	P	-	2	0	L2HGDH	49805632	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.498000	0.97972	2.793000	0.96121	0.643000	0.83706	CCG		0.388	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884	Missense_Mutation	32	46	32	46
CCDC88C	440193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	91770249	91770249	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:91770249G>A	ENST00000389857.6	-	20	3517	c.3431C>T	c.(3430-3432)aCg>aTg	p.T1144M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1144					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTTGGCCGTGTGGTGGTT	0.657																																																0													75.0	82.0	79.0					14																	91770249		2150	4254	6404	SO:0001583	missense	440193				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3431C>T	14.37:g.91770249G>A	ENSP00000374507:p.Thr1144Met		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373401	0.42105	.	.	ENSG00000015133	ENST00000389857	T	0.15372	2.43	5.38	5.38	0.77491	.	0.268632	0.25645	U	0.029245	T	0.22282	0.0537	M	0.62723	1.935	0.25738	N	0.985196	P	0.46987	0.888	B	0.42163	0.378	T	0.21621	-1.0240	10	0.87932	D	0	-3.1804	13.7565	0.62940	0.0741:0.0:0.9259:0.0	.	1144	Q9P219	DAPLE_HUMAN	M	1144	ENSP00000374507:T1144M	ENSP00000374507:T1144M	T	-	2	0	CCDC88C	90840002	0.002000	0.14202	0.028000	0.17463	0.392000	0.30506	1.344000	0.33941	2.669000	0.90835	0.561000	0.74099	ACG		0.657	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		56	75	56	75
IREB2	3658	hgsc.bcm.edu;broad.mit.edu	37	15	78730692	78730692	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:78730692A>G	ENST00000258886.8	+	1	162	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	IREB2_ENST00000560440.1_Missense_Mutation_p.K5E	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	5					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGACGCCCCAAAAGCAGGTCA	0.662																																					NSCLC(200;764 2208 35157 49871 50830)											0													25.0	26.0	26.0					15																	78730692		2196	4291	6487	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.13A>G	15.37:g.78730692A>G	ENSP00000258886:p.Lys5Glu		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	A	8.576	0.881095	0.17467	.	.	ENSG00000136381	ENST00000258886	T	0.17213	2.29	4.78	1.26	0.21427	.	1.180800	0.05947	N	0.638023	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.10296	0.002;0.003	B;B	0.11329	0.004;0.006	T	0.36696	-0.9737	10	0.38643	T	0.18	-9.7092	6.3108	0.21164	0.7068:0.0:0.2932:0.0	.	5;5	P48200;Q8WVK6	IREB2_HUMAN;.	E	5	ENSP00000258886:K5E	ENSP00000258886:K5E	K	+	1	0	IREB2	76517747	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	1.558000	0.36309	0.048000	0.15891	0.533000	0.62120	AAA		0.662	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		7	9	7	9
AGBL1	123624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A	rs377248005	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:86940603G>A	ENST00000441037.2	+	17	2338	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H|AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403													G|||	3	0.000599042	0.0	0.0	5008	,	,		18414	0.002		0.0	False		,,,				2504	0.001															0								G	HIS/ARG	0,3834		0,0,1917	98.0	92.0	94.0		2243	5.5	1.0	15		94	1,8253		0,1,4126	no	missense	AGBL1	NM_152336.2	29	0,1,6043	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	748/1067	86940603	1,12087	1917	4127	6044	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2243G>A	15.37:g.86940603G>A	ENSP00000413001:p.Arg748His		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778249	0.90195	0.0	1.21E-4	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.12255	2.7;2.7	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000001	T	0.44850	0.1313	M	0.84773	2.715	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	T	0.47005	-0.9150	10	0.87932	D	0	-15.0685	18.7311	0.91735	0.0:0.0:1.0:0.0	.	748	Q96MI9	CBPC4_HUMAN	H	777;748;479	ENSP00000397173:R748H;ENSP00000373949:R479H	ENSP00000373949:R479H	R	+	2	0	AGBL1	84741607	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.689000	0.98673	2.733000	0.93635	0.655000	0.94253	CGT		0.403	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		18	30	18	30
SRRM2	23524	hgsc.bcm.edu;broad.mit.edu	37	16	2820396	2820396	+	Silent	SNP	C	C	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr16:2820396C>A	ENST00000301740.8	+	13	8614	c.8065C>A	c.(8065-8067)Cgg>Agg	p.R2689R	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2689	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGGACTCTCGGTCCCTCAG	0.647																																																0													29.0	26.0	27.0					16																	2820396		2198	4299	6497	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.8065C>A	16.37:g.2820396C>A			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	CCDS32373.1																																																																																				0.647	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	15	15	15
C16orf45	89927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	15609218	15609218	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr16:15609218C>A	ENST00000300006.4	+	2	522	c.163C>A	c.(163-165)Ctg>Atg	p.L55M	C16orf45_ENST00000561692.1_Missense_Mutation_p.L7M|C16orf45_ENST00000452191.2_Missense_Mutation_p.L38M|C16orf45_ENST00000566490.1_Missense_Mutation_p.L55M	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	55										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GGAGATTGAGCTGGAGATGGC	0.532																																																0													132.0	111.0	118.0					16																	15609218		2197	4300	6497	SO:0001583	missense	0			AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.163C>A	16.37:g.15609218C>A	ENSP00000300006:p.Leu55Met		O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318191	0.60524	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.42513	0.97;0.97	5.14	1.55	0.23275	Domain of unknown function DUF3585 (1);	0.141477	0.48286	D	0.000184	T	0.41050	0.1142	L	0.39020	1.185	0.38442	D	0.946738	P	0.48998	0.918	P	0.52386	0.697	T	0.34204	-0.9838	10	0.48119	T	0.1	1.0445	9.7628	0.40543	0.0:0.7188:0.0:0.2812	.	55	Q96MC5	CP045_HUMAN	M	55;38	ENSP00000300006:L55M;ENSP00000408976:L38M	ENSP00000300006:L55M	L	+	1	2	C16orf45	15516719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.059000	0.30517	0.522000	0.28464	0.655000	0.94253	CTG		0.532	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		24	38	24	38
OR3A2	4995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	3181586	3181586	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:3181586A>G	ENST00000408891.2	-	1	682	c.644T>C	c.(643-645)aTg>aCg	p.M215T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	215					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						TGTGCCTGCCATGATGAAACC	0.547																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)											0													86.0	80.0	82.0					17																	3181586		2203	4300	6503	SO:0001583	missense	4995			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.644T>C	17.37:g.3181586A>G	ENSP00000386180:p.Met215Thr		Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	A	7.468	0.646163	0.14451	.	.	ENSG00000221882	ENST00000408891	T	0.00058	8.79	4.83	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00144	0.0004	N	0.24115	0.695	0.09310	N	1	P	0.51933	0.949	P	0.53146	0.719	T	0.43294	-0.9400	10	0.33940	T	0.23	-22.5817	0.909	0.01291	0.5044:0.1617:0.1788:0.1552	.	215	P47893	OR3A2_HUMAN	T	215	ENSP00000386180:M215T	ENSP00000386180:M215T	M	-	2	0	OR3A2	3128336	0.007000	0.16637	0.113000	0.21522	0.011000	0.07611	1.391000	0.34475	0.939000	0.37446	0.418000	0.28097	ATG		0.547	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			40	63	40	63
MYH13	8735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10267760	10267760	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:10267760G>A	ENST00000418404.3	-	2	251	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	MYH13_ENST00000252172.4_Missense_Mutation_p.R30C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	30					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCGAATGGACGATTTTGAGCC	0.463																																																0													120.0	112.0	115.0					17																	10267760		1922	4137	6059	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.88C>T	17.37:g.10267760G>A	ENSP00000404570:p.Arg30Cys		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270781	0.40194	.	.	ENSG00000006788	ENST00000252172	D	0.86164	-2.08	4.69	4.69	0.59074	.	.	.	.	.	D	0.89839	0.6831	M	0.74647	2.275	0.26993	N	0.965109	D	0.58620	0.983	P	0.50590	0.645	D	0.84515	0.0624	9	0.72032	D	0.01	.	13.1913	0.59713	0.0:0.0:0.8408:0.1592	.	30	Q9UKX3	MYH13_HUMAN	C	30	ENSP00000252172:R30C	ENSP00000252172:R30C	R	-	1	0	MYH13	10208485	0.000000	0.05858	0.489000	0.27452	0.263000	0.26337	-0.814000	0.04486	2.597000	0.87782	0.655000	0.94253	CGT		0.463	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		9	8	9	8
FHOD3	80206	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	34298551	34298551	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr18:34298551A>G	ENST00000359247.4	+	15	2714	c.2714A>G	c.(2713-2715)gAc>gGc	p.D905G	FHOD3_ENST00000590592.1_Missense_Mutation_p.D1097G|FHOD3_ENST00000445677.1_Missense_Mutation_p.D884G|FHOD3_ENST00000591635.1_Missense_Mutation_p.D118G|FHOD3_ENST00000257209.4_Missense_Mutation_p.D922G|FHOD3_ENST00000592128.1_5'UTR	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	905	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGCCTTTTGACTGGCCATGT	0.502																																																0													124.0	122.0	123.0					18																	34298551		2203	4300	6503	SO:0001583	missense	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2714A>G	18.37:g.34298551A>G	ENSP00000352186:p.Asp905Gly		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	A	10.95	1.495819	0.26774	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.17213	2.29;2.29;2.29	4.46	4.46	0.54185	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.313252	0.34110	N	0.004253	T	0.14700	0.0355	L	0.40543	1.245	0.44807	D	0.997811	B;B;B	0.20887	0.039;0.049;0.001	B;B;B	0.24394	0.031;0.053;0.009	T	0.06499	-1.0823	10	0.18276	T	0.48	.	12.5695	0.56328	1.0:0.0:0.0:0.0	.	884;905;922	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	G	922;905;884	ENSP00000257209:D922G;ENSP00000352186:D905G;ENSP00000411430:D884G	ENSP00000257209:D922G	D	+	2	0	FHOD3	32552549	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.297000	0.96120	1.654000	0.50703	0.454000	0.30748	GAC		0.502	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		79	112	79	112
CD209	30835	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	7812221	7812221	+	Missense_Mutation	SNP	C	C	T	rs372800166		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:7812221C>T	ENST00000315599.7	-	2	99	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	CD209_ENST00000301357.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.R26Q|CD209_ENST00000602261.1_Missense_Mutation_p.R26Q|CD209_ENST00000601951.1_Missense_Mutation_p.R26Q|CD209_ENST00000601256.1_Missense_Mutation_p.R26Q|CD209_ENST00000204801.8_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.R26Q|CD209_ENST00000394161.5_Missense_Mutation_p.R26Q|CD209_ENST00000354397.6_Missense_Mutation_p.R26Q|CD209_ENST00000593660.1_Missense_Mutation_p.R26Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	26					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCGAGTCTGTCGGAATCCAAG	0.572																																																0								C	,,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	332.0	340.0	337.0		,,77,77,77,77,77	-4.2	0.0	19		337	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_021155.3,NM_001144899.1,NM_001144897.1,NM_001144896.1,NM_001144895.1	,,43,43,43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,benign,benign,benign,benign,benign	,,26/405,26/244,26/399,26/381,26/313	7812221	2,13004	2203	4300	6503	SO:0001583	missense	30835			M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.77G>A	19.37:g.7812221C>T	ENSP00000315477:p.Arg26Gln		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	4.283	0.051772	0.08291	0.0	2.33E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000394173;ENST00000394161;ENST00000538585	T;T;T;T;T	0.09817	3.8;4.19;3.62;3.94;2.94	3.16	-4.19	0.03835	.	.	.	.	.	T	0.03220	0.0094	N	0.05230	-0.09	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.33379	0.022;0.003;0.028;0.41;0.024;0.079;0.022;0.116;0.006;0.236	B;B;B;B;B;B;B;B;B;B	0.24394	0.003;0.002;0.007;0.053;0.003;0.007;0.005;0.012;0.002;0.016	T	0.42310	-0.9459	9	0.22706	T	0.39	.	4.5363	0.12032	0.0:0.361:0.1662:0.4728	.	26;26;26;26;26;26;26;26;26;26	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-12;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	Q	26	ENSP00000315477:R26Q;ENSP00000346373:R26Q;ENSP00000315407:R26Q;ENSP00000377728:R26Q;ENSP00000377716:R26Q	ENSP00000315407:R26Q	R	-	2	0	CD209	7718221	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.253000	0.01184	-0.965000	0.03591	-1.254000	0.01491	CGA		0.572	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		259	670	259	670
ZNF763	284390	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	12089769	12089769	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:12089769G>A	ENST00000358987.3	+	4	1157	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	ZNF763_ENST00000538752.1_Missense_Mutation_p.E364K|ZNF763_ENST00000343949.5_Missense_Mutation_p.E347K|ZNF763_ENST00000545530.1_Missense_Mutation_p.E222K|ZNF763_ENST00000590798.1_Missense_Mutation_p.E364K			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TCAATGTAAGGAATGTAGAAA	0.413																																																0													98.0	103.0	101.0					19																	12089769		2189	4290	6479	SO:0001583	missense	284390			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.1030G>A	19.37:g.12089769G>A	ENSP00000402017:p.Glu344Lys		B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37		.	.	.	.	.	.	.	.	.	.	g	4.209	0.037517	0.08148	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	1.41	-2.81	0.05805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11665	0.0284	L	0.48986	1.54	0.09310	N	1	B;B;B	0.30727	0.114;0.292;0.0	B;B;B	0.24541	0.035;0.054;0.0	T	0.23261	-1.0193	9	0.32370	T	0.25	.	4.5141	0.11926	0.3012:0.2879:0.4108:0.0	.	364;344;347	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	K	364;347;222;344	ENSP00000438117:E364K;ENSP00000369774:E347K;ENSP00000446166:E222K;ENSP00000402017:E344K	ENSP00000369774:E347K	E	+	1	0	ZNF763	11950769	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.102000	0.03332	-0.724000	0.04908	-1.026000	0.02426	GAA		0.413	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		61	128	61	128
C19orf43	79002	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	12841862	12841862	+	Silent	SNP	G	G	A	rs116718949	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:12841862G>A	ENST00000242784.4	-	3	561	c.444C>T	c.(442-444)gaC>gaT	p.D148D	C19orf43_ENST00000592273.1_Silent_p.D122D|C19orf43_ENST00000588213.1_3'UTR	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	148										endometrium(2)|large_intestine(2)	4						TGGCCCACGCGTCACCTTTAC	0.557													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18328	0.0		0.0	False		,,,				2504	0.0															0								G		19,4387	25.3+/-52.1	1,17,2185	151.0	132.0	139.0		444	-2.7	0.6	19	dbSNP_132	139	0,8600		0,0,4300	no	coding-synonymous	C19orf43	NM_024038.2		1,17,6485	AA,AG,GG		0.0,0.4312,0.1461		148/177	12841862	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.444C>T	19.37:g.12841862G>A				Silent	SNP	ENST00000242784.4	37	CCDS12279.1																																																																																				0.557	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		45	99	45	99
TECR	9524	hgsc.bcm.edu;ucsc.edu	37	19	14674491	14674491	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:14674491G>A	ENST00000215567.5	+	4	277	c.140G>A	c.(139-141)cGc>cAc	p.R47H	TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000436007.2_Missense_Mutation_p.R62H|TECR_ENST00000596164.1_3'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	47					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						TACCCCGCCCGCCAGTCCCTC	0.706																																																0													25.0	28.0	27.0					19																	14674491		2203	4297	6500	SO:0001583	missense	9524			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.140G>A	19.37:g.14674491G>A	ENSP00000215567:p.Arg47His		B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144763	0.77888	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.42131	0.98;0.98	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	M	0.78637	2.42	0.80722	D	1	B;P;B	0.36535	0.414;0.557;0.414	B;B;B	0.26693	0.072;0.072;0.072	T	0.54390	-0.8301	10	0.87932	D	0	-15.1675	16.7682	0.85529	0.0:0.0:1.0:0.0	.	47;62;47	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	H	47;62	ENSP00000215567:R47H;ENSP00000397206:R62H	ENSP00000215567:R47H	R	+	2	0	TECR	14535491	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.053000	0.93860	2.569000	0.86673	0.561000	0.74099	CGC		0.706	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		52	102	52	102
SLC1A6	6511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	15063753	15063753	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:15063753C>T	ENST00000221742.3	-	8	1493	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	SLC1A6_ENST00000430939.2_Missense_Mutation_p.V432M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V418M	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	496					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						AACCAGTCCACGGCAATGATG	0.582																																																0													193.0	145.0	162.0					19																	15063753		2203	4300	6503	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1486G>A	19.37:g.15063753C>T	ENSP00000221742:p.Val496Met		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	-	21.2	4.119758	0.77323	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.66638	-0.03;-0.22	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.85392	0.5686	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.968;0.981	D	0.89274	0.3607	10	0.87932	D	0	-31.9452	14.8789	0.70516	0.0:1.0:0.0:0.0	.	432;496	E7EV13;P48664	.;EAA4_HUMAN	M	432;496	ENSP00000409386:V432M;ENSP00000221742:V496M	ENSP00000221742:V496M	V	-	1	0	SLC1A6	14924753	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	7.455000	0.80726	2.451000	0.82905	0.446000	0.29264	GTG		0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		78	140	78	140
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	38942436	38942436	+	Silent	SNP	C	C	T	rs144658230	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:38942436C>T	ENST00000359596.3	+	12	1155	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	RYR1_ENST00000355481.4_Silent_p.D385D|RYR1_ENST00000360985.3_Silent_p.D385D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	385	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACATGGACGACGCACTGTCGC	0.632													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16381	0.002		0.0	False		,,,				2504	0.0															0								C	,	1,4405	2.1+/-5.4	0,1,2202	89.0	69.0	76.0		1155,1155	-7.8	0.1	19	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	385/5039,385/5034	38942436	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1155C>T	19.37:g.38942436C>T			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			47	119	47	119
RSPH6A	81492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	46313896	46313896	+	Missense_Mutation	SNP	C	C	T	rs553772648		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:46313896C>T	ENST00000221538.3	-	2	995	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	RSPH6A_ENST00000600188.1_Missense_Mutation_p.G21S|RSPH6A_ENST00000597055.1_Missense_Mutation_p.G285S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	285						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTTCAGTGCCGCCTCCACTC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18027	0.0		0.0	False		,,,				2504	0.0															0													175.0	157.0	163.0					19																	46313896		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.853G>A	19.37:g.46313896C>T	ENSP00000221538:p.Gly285Ser		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	5.995	0.367457	0.11352	.	.	ENSG00000104941	ENST00000221538	T	0.17370	2.28	3.25	0.85	0.18980	.	0.782162	0.10588	N	0.657117	T	0.12050	0.0293	L	0.52126	1.63	0.09310	N	1	B	0.28178	0.202	B	0.22152	0.038	T	0.38045	-0.9679	10	0.10636	T	0.68	-6.814	5.1443	0.14977	0.0:0.6827:0.0:0.3173	.	285	Q9H0K4	RSH6A_HUMAN	S	285	ENSP00000221538:G285S	ENSP00000221538:G285S	G	-	1	0	RSPH6A	51005736	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.045000	0.12003	0.292000	0.22492	0.650000	0.86243	GGC		0.627	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			125	331	125	331
LILRA4	23547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	54849686	54849686	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:54849686G>A	ENST00000291759.4	-	3	392	c.336C>T	c.(334-336)ccC>ccT	p.P112P	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	112	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCAGCTCCAGGGGGTCGCTGG	0.617																																																0													67.0	62.0	64.0					19																	54849686		2203	4300	6503	SO:0001819	synonymous_variant	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.336C>T	19.37:g.54849686G>A			Q32MC4	Silent	SNP	ENST00000291759.4	37	CCDS12890.1																																																																																				0.617	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		33	85	33	85
SPAG17	200162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	118516183	118516183	+	Splice_Site	SNP	T	T	C			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:118516183T>C	ENST00000336338.5	-	44	6071	c.6006A>G	c.(6004-6006)gaA>gaG	p.E2002E	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2002						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)		AAGATTCTGCTTCTGTTAGAG	0.378																																																0													89.0	89.0	89.0					1																	118516183		2203	4300	6503	SO:0001630	splice_region_variant	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.6005-1A>G	1.37:g.118516183T>C			Q8NAZ1|Q9NT21	Splice_Site	SNP	ENST00000336338.5	37	CCDS899.1																																																																																				0.378	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	Silent	50	55	50	55
RUSC1	23623	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	155296536	155296536	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:155296536C>T	ENST00000368352.5	+	8	2178	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368349.4_Missense_Mutation_p.P207L|RUSC1_ENST00000368347.4_Missense_Mutation_p.P266L|RUSC1_ENST00000292254.4_Missense_Mutation_p.P207L|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Intron	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	676					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTGGGCCCACCTCAGGCCCCT	0.657																																																0													41.0	49.0	46.0					1																	155296536		2203	4299	6502	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2027C>T	1.37:g.155296536C>T	ENSP00000357336:p.Pro676Leu		B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324409	0.10900	.	.	ENSG00000160753	ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T	0.30981	1.98;1.51;1.53;1.53	4.27	1.18	0.20946	.	0.839843	0.09973	N	0.732003	T	0.10380	0.0254	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.18166	0.004;0.026;0.007;0.003	B;B;B;B	0.19391	0.002;0.025;0.006;0.005	T	0.36359	-0.9751	10	0.51188	T	0.08	-1.63	4.1552	0.10258	0.3355:0.4842:0.0:0.1804	.	174;207;266;676	B4DQB8;Q9BVN2-2;Q5T9V0;Q9BVN2	.;.;.;RUSC1_HUMAN	L	676;266;207;207	ENSP00000357336:P676L;ENSP00000357331:P266L;ENSP00000357333:P207L;ENSP00000292254:P207L	ENSP00000292254:P207L	P	+	2	0	RUSC1	153563160	0.000000	0.05858	0.002000	0.10522	0.078000	0.17371	0.565000	0.23578	0.133000	0.18654	0.591000	0.81541	CCT		0.657	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			80	114	80	114
SUCO	51430	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	172579290	172579290	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:172579290T>G	ENST00000263688.3	+	24	3875	c.3656T>G	c.(3655-3657)cTa>cGa	p.L1219R	SUCO_ENST00000610051.1_Missense_Mutation_p.L848R|SUCO_ENST00000367723.4_Missense_Mutation_p.L1370R|SUCO_ENST00000608151.1_Missense_Mutation_p.L1371R	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1219					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATAAAAACTCTAATACAGACT	0.418																																																0													57.0	59.0	58.0					1																	172579290		2202	4300	6502	SO:0001583	missense	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3656T>G	1.37:g.172579290T>G	ENSP00000263688:p.Leu1219Arg		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.130317	0.56721	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	5.26	0.73747	.	0.156119	0.43579	D	0.000542	T	0.71567	0.3355	M	0.65975	2.015	0.43088	D	0.99475	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.80764	0.931;0.994;0.994	T	0.76358	-0.2988	9	0.87932	D	0	-9.4595	14.2866	0.66249	0.0:0.0:0.0:1.0	.	848;1371;1219	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	R	1371;1219	.	ENSP00000263688:L1219R	L	+	2	0	C1orf9	170845913	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.789000	0.69029	2.115000	0.64714	0.528000	0.53228	CTA		0.418	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		20	32	20	32
PCNXL2	80003	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	233150466	233150466	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:233150466G>A	ENST00000258229.9	-	28	5131	c.4897C>T	c.(4897-4899)Ctg>Ttg	p.L1633L	PCNXL2_ENST00000344698.2_Silent_p.L285L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1633						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTGCACAGGGCGAAGGAC	0.542																																																0													96.0	94.0	95.0					1																	233150466		1965	4149	6114	SO:0001819	synonymous_variant	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4897C>T	1.37:g.233150466G>A			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	CCDS44335.1																																																																																				0.542	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		37	77	37	77
OR2T34	127068	hgsc.bcm.edu;broad.mit.edu	37	1	248737288	248737288	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:248737288G>A	ENST00000328782.2	-	1	792	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGAAGCACCGAAGAGCAGCA	0.557																																																0													49.0	54.0	52.0					1																	248737288		2152	4297	6449	SO:0001819	synonymous_variant	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.771C>T	1.37:g.248737288G>A			B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	CCDS31120.1																																																																																				0.557	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		43	59	43	59
TMPRSS15	5651	hgsc.bcm.edu;broad.mit.edu	37	21	19716359	19716359	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr21:19716359G>T	ENST00000284885.3	-	11	1223	c.1190C>A	c.(1189-1191)cCa>cAa	p.P397Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	397	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGTCCAGTTGGGGTAGAAAT	0.398																																																0													77.0	80.0	79.0					21																	19716359		2203	4300	6503	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1190C>A	21.37:g.19716359G>T	ENSP00000284885:p.Pro397Gln		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651901	0.67472	.	.	ENSG00000154646	ENST00000284885	T	0.01963	4.53	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	M	0.75150	2.29	0.48901	D	0.999726	D	0.76494	0.999	D	0.75020	0.985	T	0.00330	-1.1812	9	.	.	.	.	16.4081	0.83697	0.0:0.0:1.0:0.0	.	397	P98073	ENTK_HUMAN	Q	397	ENSP00000284885:P397Q	.	P	-	2	0	TMPRSS15	18638230	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	3.908000	0.56355	2.633000	0.89246	0.460000	0.39030	CCA		0.398	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		76	75	76	75
SLC5A4	6527	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	32643471	32643471	+	Missense_Mutation	SNP	C	C	T	rs187066322		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr22:32643471C>T	ENST00000266086.4	-	5	415	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	135					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCACCAAACCGCTTCTTGAG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19682	0.001		0.0	False		,,,				2504	0.0															0													108.0	86.0	93.0					22																	32643471		2203	4300	6503	SO:0001583	missense	6527			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.404G>A	22.37:g.32643471C>T	ENSP00000266086:p.Arg135Gln		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.359151	0.95854	.	.	ENSG00000100191	ENST00000266086	D	0.96104	-3.91	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	H	0.97365	3.99	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99425	1.0934	10	0.87932	D	0	.	16.2176	0.82239	0.0:1.0:0.0:0.0	.	135	Q9NY91	SC5A4_HUMAN	Q	135	ENSP00000266086:R135Q	ENSP00000266086:R135Q	R	-	2	0	SLC5A4	30973471	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.510000	0.67018	2.692000	0.91855	0.655000	0.94253	CGG		0.488	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		23	39	23	39
MICALL1	85377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	38329071	38329071	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr22:38329071C>T	ENST00000215957.6	+	13	2386	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	754	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCTGGAGCAGCGCCAGGCTGA	0.612																																																0													66.0	68.0	68.0					22																	38329071		2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2260C>T	22.37:g.38329071C>T	ENSP00000215957:p.Arg754Cys		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.640862|4.640862	0.87859|0.87859	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957;ENST00000402631;ENST00000424008	.|T;T;T	.|0.48522	.|0.81;0.81;0.81	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Domain of unknown function DUF3585 (1);	.|0.093674	.|0.47455	.|D	.|0.000224	T|T	0.73329|0.73329	0.3573|0.3573	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69824	.|0.966	T|T	0.77611|0.77611	-0.2523|-0.2523	5|10	.|0.87932	.|D	.|0	.|.	19.4838|19.4838	0.95020|0.95020	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|754	.|Q8N3F8	.|MILK1_HUMAN	V|C	329|754;181;68	.|ENSP00000215957:R754C;ENSP00000384608:R181C;ENSP00000416766:R68C	.|ENSP00000215957:R754C	A|R	+|+	2|1	0|0	MICALL1|MICALL1	36659017|36659017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.801000|4.801000	0.62532|0.62532	2.599000|2.599000	0.87857|0.87857	0.643000|0.643000	0.83706|0.83706	GCG|CGC		0.612	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		41	76	41	76
TPO	7173	hgsc.bcm.edu;ucsc.edu	37	2	1457595	1457595	+	Splice_Site	SNP	G	G	A	rs3732349	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:1457595G>A	ENST00000345913.4	+	6	703	c.612G>A	c.(610-612)ccG>ccA	p.P204P	TPO_ENST00000382198.1_Splice_Site_p.P204P|TPO_ENST00000349624.3_Splice_Site_p.P204P|TPO_ENST00000346956.3_Splice_Site_p.P204P|TPO_ENST00000329066.4_Splice_Site_p.P204P|TPO_ENST00000382201.3_Splice_Site_p.P204P|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Splice_Site_p.P204P	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	204					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACTGCCCCCGGTGGGTACTC	0.592													G|||	6	0.00119808	0.0	0.0	5008	,	,		16567	0.006		0.0	False		,,,				2504	0.0															0													30.0	33.0	32.0					2																	1457595		2203	4300	6503	SO:0001630	splice_region_variant	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.612+1G>A	2.37:g.1457595G>A			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Splice_Site	SNP	ENST00000345913.4	37	CCDS1643.1																																																																																				0.592	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	Silent	33	28	33	28
VRK2	7444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	58358955	58358955	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:58358955G>A	ENST00000435505.2	+	12	1434	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	VRK2_ENST00000340157.4_Missense_Mutation_p.R230Q|VRK2_ENST00000440705.2_Missense_Mutation_p.R207Q|VRK2_ENST00000417641.2_Missense_Mutation_p.R230Q|VRK2_ENST00000412104.2_Missense_Mutation_p.R230Q			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTGTCCAGACGAAGTGACGTT	0.478																																																0													131.0	119.0	123.0					2																	58358955		2203	4300	6503	SO:0001583	missense	7444			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.689G>A	2.37:g.58358955G>A	ENSP00000408002:p.Arg230Gln		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504845	0.96371	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.997	T	0.64753	-0.6333	10	0.87932	D	0	-17.0965	20.6593	0.99626	0.0:0.0:1.0:0.0	.	234;230;230;230	B7Z2X1;Q86Y07-2;Q86Y07-5;Q86Y07	.;.;.;VRK2_HUMAN	Q	230;230;234;230;230;230;207	ENSP00000408002:R230Q;ENSP00000402375:R230Q;ENSP00000404156:R230Q;ENSP00000342381:R230Q;ENSP00000398323:R207Q	ENSP00000342381:R230Q	R	+	2	0	VRK2	58212459	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CGA		0.478	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		38	46	38	46
RANBP2	5903	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	109400287	109400287	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:109400287T>C	ENST00000283195.6	+	29	9731	c.9605T>C	c.(9604-9606)aTt>aCt	p.I3202T	CCDC138_ENST00000295124.4_5'Flank|CCDC138_ENST00000412964.2_5'Flank	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3202	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTGAAAAAGATTGAATCATTT	0.328																																																0													119.0	126.0	124.0					2																	109400287		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.9605T>C	2.37:g.109400287T>C	ENSP00000283195:p.Ile3202Thr		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940958	0.73557	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.60548	0.18	5.43	5.43	0.79202	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	.	.	.	.	T	0.81394	0.4813	H	0.97587	4.035	0.41095	D	0.985623	D	0.57571	0.98	P	0.55749	0.783	D	0.88700	0.3215	9	0.87932	D	0	-15.7928	15.7589	0.78063	0.0:0.0:0.0:1.0	.	3202	P49792	RBP2_HUMAN	T	2226;3202	ENSP00000283195:I3202T	ENSP00000283195:I3202T	I	+	2	0	RANBP2	108766719	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.711000	0.84669	2.190000	0.69967	0.533000	0.62120	ATT		0.328	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		29	41	29	41
DPP10	57628	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	116525951	116525951	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:116525951T>A	ENST00000410059.1	+	13	1672	c.1192T>A	c.(1192-1194)Ttt>Att	p.F398I	DPP10_ENST00000310323.8_Missense_Mutation_p.F391I|DPP10_ENST00000409163.1_Missense_Mutation_p.F348I|DPP10_ENST00000393147.2_Missense_Mutation_p.F402I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	398						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACGTGGAGAATTTCACCACGT	0.463																																																0													140.0	136.0	138.0					2																	116525951		2203	4300	6503	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1192T>A	2.37:g.116525951T>A	ENSP00000386565:p.Phe398Ile		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.024721	0.93518	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.25	5.25	0.73442	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	M	0.92738	3.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.983;0.999;0.999	T	0.79579	-0.1745	10	0.87932	D	0	-8.3568	14.1307	0.65253	0.0:0.0:0.0:1.0	.	391;402;394;398	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	398;348;402;391;348	ENSP00000386565:F398I;ENSP00000387038:F348I;ENSP00000376855:F402I;ENSP00000309066:F391I	ENSP00000309066:F391I	F	+	1	0	DPP10	116242421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.199000	0.70637	0.533000	0.62120	TTT		0.463	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		26	37	26	37
CERKL	375298	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	182468728	182468728	+	Missense_Mutation	SNP	C	C	T	rs371438602		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:182468728C>T	ENST00000339098.5	-	2	316	c.317G>A	c.(316-318)cGt>cAt	p.R106H	CERKL_ENST00000374969.2_Missense_Mutation_p.R106H|CERKL_ENST00000410087.3_Missense_Mutation_p.R106H|CERKL_ENST00000374970.2_Missense_Mutation_p.R106H|CERKL_ENST00000409440.3_Missense_Mutation_p.R106H|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	106			R -> S (in RP26). {ECO:0000269|PubMed:18978954}.		negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R106H(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AACAGAACAACGCCGTTTCAG	0.313																																																2	Substitution - Missense(2)	endometrium(2)						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	69.0	66.0	67.0		317,317,317,317,317	5.1	1.0	2		67	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense,missense,missense	CERKL	NM_001030311.2,NM_001030312.2,NM_001030313.2,NM_001160277.1,NM_201548.4	29,29,29,29,29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	106/559,106/420,106/464,106/515,106/533	182468728	1,13001	2203	4298	6501	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.317G>A	2.37:g.182468728C>T	ENSP00000341159:p.Arg106His		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728681	0.89390	0.0	1.16E-4	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.41400	2.09;1.97;1.0;2.35;1.31	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.52964	0.1767	L	0.32530	0.975	0.43750	D	0.996256	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.996;0.997;0.997	T	0.39165	-0.9627	10	0.16896	T	0.51	.	18.4622	0.90743	0.0:1.0:0.0:0.0	.	106;106;106;106;106	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	H	106	ENSP00000386725:R106H;ENSP00000387080:R106H;ENSP00000364108:R106H;ENSP00000341159:R106H;ENSP00000364109:R106H	ENSP00000341159:R106H	R	-	2	0	CERKL	182176973	1.000000	0.71417	0.957000	0.39632	0.993000	0.82548	5.663000	0.68038	2.529000	0.85273	0.650000	0.86243	CGT		0.313	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			9	19	9	19
CCDC108	255101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	219893020	219893020	+	Missense_Mutation	SNP	C	C	T	rs147414922		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:219893020C>T	ENST00000341552.5	-	12	1837	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.R585Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.R585Q|CCDC108_ENST00000409865.3_Missense_Mutation_p.R574Q|CCDC108_ENST00000410037.1_Missense_Mutation_p.R520Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	585						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCCCCGGGCCAGGTG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		14886	0.0		0.0	False		,,,				2504	0.001															0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	107.0	106.0		1754	4.9	1.0	2	dbSNP_134	106	0,8600		0,0,4300	no	missense	CCDC108	NM_194302.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	585/1926	219893020	1,13005	2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1754G>A	2.37:g.219893020C>T	ENSP00000340776:p.Arg585Gln		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333416	0.81801	2.27E-4	0.0	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07114	3.48;3.48;3.48;3.22;3.24	4.87	4.87	0.63330	.	0.000000	0.41097	D	0.000954	T	0.23649	0.0572	L	0.58669	1.825	0.80722	D	1	D;D;D	0.76494	0.998;0.996;0.999	P;P;D	0.64877	0.907;0.803;0.93	T	0.00819	-1.1553	10	0.27785	T	0.31	-36.6248	18.2044	0.89850	0.0:1.0:0.0:0.0	.	574;519;585	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	Q	585;585;585;61;574;520;519	ENSP00000340776:R585Q;ENSP00000413377:R585Q;ENSP00000409117:R585Q;ENSP00000386945:R574Q;ENSP00000386258:R520Q	ENSP00000340776:R585Q	R	-	2	0	CCDC108	219601264	0.972000	0.33761	0.996000	0.52242	0.925000	0.55904	2.743000	0.47442	2.522000	0.85027	0.655000	0.94253	CGG		0.617	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		65	81	65	81
ASIC4	55515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	220379714	220379714	+	Missense_Mutation	SNP	C	C	T	rs575903196		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:220379714C>T	ENST00000347842.3	+	1	663	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Missense_Mutation_p.R217W	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	217					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TGGCCTGGCCCGGGGCTACCT	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		14135	0.0		0.0	False		,,,				2504	0.001															0													19.0	22.0	21.0					2																	220379714		2200	4295	6495	SO:0001583	missense	55515			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.649C>T	2.37:g.220379714C>T	ENSP00000326627:p.Arg217Trp		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.421141	0.42918	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.64260	-0.09;-0.09	4.48	2.47	0.30058	.	0.640399	0.14179	N	0.336170	T	0.64360	0.2591	L	0.32530	0.975	0.32880	D	0.510395	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.65987	0.934;0.94;0.891	T	0.67245	-0.5719	10	0.62326	D	0.03	-9.303	6.5516	0.22438	0.3939:0.5198:0.0:0.0862	.	217;217;217	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	W	217	ENSP00000326627:R217W;ENSP00000350786:R217W	ENSP00000326627:R217W	R	+	1	2	ACCN4	220087958	0.333000	0.24731	1.000000	0.80357	0.911000	0.54048	0.164000	0.16542	0.359000	0.24239	0.655000	0.94253	CGG		0.701	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		23	30	23	30
SP100	6672	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	231331885	231331885	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:231331885G>A	ENST00000264052.5	+	13	1601	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	SP100_ENST00000427101.2_Missense_Mutation_p.A391T|SP100_ENST00000409341.1_Missense_Mutation_p.A416T|SP100_ENST00000409824.1_Missense_Mutation_p.A391T|SP100_ENST00000409897.1_Missense_Mutation_p.A381T|SP100_ENST00000340126.4_Missense_Mutation_p.A416T|SP100_ENST00000341950.4_Missense_Mutation_p.A416T|SP100_ENST00000409112.1_Missense_Mutation_p.A416T	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	416	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGCGCCCGCAGAAGCCTC	0.527																																																0													111.0	125.0	120.0					2																	231331885		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1246G>A	2.37:g.231331885G>A	ENSP00000264052:p.Ala416Thr		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	3.678	-0.066041	0.07273	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897;ENST00000452345	T;T;T;T;T;T;T;T;T	0.79845	2.34;2.21;2.24;2.23;-1.31;0.27;2.22;2.23;0.89	3.83	-7.67	0.01272	.	2.577270	0.02106	N	0.054379	T	0.56366	0.1980	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.53830	-0.8383	10	0.19147	T	0.46	.	3.8759	0.09056	0.19:0.151:0.0944:0.5646	.	391;381;416;416;416;391;416	F8WFE2;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;SP100_HUMAN;.;.;.	T	416;391;391;416;416;416;416;381;81	ENSP00000264052:A416T;ENSP00000399389:A391T;ENSP00000387311:A391T;ENSP00000386404:A416T;ENSP00000386427:A416T;ENSP00000343023:A416T;ENSP00000342729:A416T;ENSP00000386998:A381T;ENSP00000416563:A81T	ENSP00000264052:A416T	A	+	1	0	SP100	231040129	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.241000	0.01196	-3.135000	0.00235	-1.199000	0.01669	GCA		0.527	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		97	122	97	122
UGT1A7	54577	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	234590757	234590757	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:234590757C>T	ENST00000373426.3	+	1	174	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	58					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TGGTCGTAGTCATGCCAGAGG	0.547																																																0													135.0	116.0	122.0					2																	234590757		2203	4300	6503	SO:0001819	synonymous_variant	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.174C>T	2.37:g.234590757C>T			B8K293|O00473	Silent	SNP	ENST00000373426.3	37	CCDS2506.1																																																																																				0.547	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		76	87	76	87
LRRIQ4	344657	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	169540471	169540471	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr3:169540471C>T	ENST00000340806.6	+	1	762	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	254										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAGCTTCGCCGAGCTCAGGA	0.602																																																0													33.0	36.0	35.0					3																	169540471		1987	4157	6144	SO:0001819	synonymous_variant	344657				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.762C>T	3.37:g.169540471C>T				Silent	SNP	ENST00000340806.6	37	CCDS46951.1																																																																																				0.602	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		21	36	21	36
FAM43A	131583	hgsc.bcm.edu;broad.mit.edu	37	3	194408803	194408803	+	Silent	SNP	T	T	C			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr3:194408803T>C	ENST00000329759.4	+	1	2182	c.1248T>C	c.(1246-1248)agT>agC	p.S416S		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	416										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		ACGGCGCCAGTGCAGACGAGC	0.751																																																0													4.0	5.0	5.0					3																	194408803		1561	3297	4858	SO:0001819	synonymous_variant	131583			AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.1248T>C	3.37:g.194408803T>C			A3KME2|Q8IXP4|Q8WZ07	Silent	SNP	ENST00000329759.4	37	CCDS33923.1																																																																																				0.751	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342734.1	NM_153690		7	7	7	7
ZNF732	654254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	265912	265912	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr4:265912G>A	ENST00000419098.1	-	4	744	c.734C>T	c.(733-735)aCt>aTt	p.T245I		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTTCTCTCCAGTATGAACTTT	0.368																																																0													70.0	61.0	64.0					4																	265912		692	1591	2283	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.734C>T	4.37:g.265912G>A	ENSP00000415774:p.Thr245Ile			Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.775140	0.31411	.	.	ENSG00000186777	ENST00000419098	T	0.06218	3.33	0.946	-0.866	0.10659	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	M	0.76838	2.35	0.26564	N	0.973676	D	0.63880	0.993	D	0.70935	0.971	T	0.07028	-1.0794	9	0.66056	D	0.02	.	6.0867	0.19970	0.0:0.3203:0.6797:0.0	.	245	B4DXR9	ZN732_HUMAN	I	245	ENSP00000415774:T245I	ENSP00000415774:T245I	T	-	2	0	ZNF732	255912	0.434000	0.25570	0.008000	0.14137	0.007000	0.05969	0.429000	0.21412	0.399000	0.25367	0.400000	0.26472	ACT		0.368	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		6	18	6	18
VCAN	1462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	82816827	82816827	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:82816827C>T	ENST00000265077.3	+	7	3267	c.2702C>T	c.(2701-2703)aCa>aTa	p.T901I	VCAN_ENST00000512590.2_Missense_Mutation_p.T853I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T901I|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	901	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGAGATTCTACAACTGAAGAA	0.408																																																0													96.0	98.0	97.0					5																	82816827		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2702C>T	5.37:g.82816827C>T	ENSP00000265077:p.Thr901Ile		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.613884	0.00120	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.18810	2.19;2.19;2.19	5.67	1.93	0.25924	.	0.675264	0.14155	N	0.337760	T	0.15912	0.0383	L	0.32530	0.975	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.003	T	0.20571	-1.0271	10	0.38643	T	0.18	.	10.38	0.44106	0.0:0.703:0.0:0.297	.	901;901	P13611-3;P13611	.;CSPG2_HUMAN	I	901;901;853	ENSP00000265077:T901I;ENSP00000342768:T901I;ENSP00000425959:T853I	ENSP00000265077:T901I	T	+	2	0	VCAN	82852583	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.014000	0.13333	0.080000	0.16959	-1.134000	0.01955	ACA		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		67	65	67	65
FGD2	221472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	36979617	36979617	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:36979617C>T	ENST00000274963.8	+	4	685	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	172	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCTGCAGCGGCGCCTGGACGA	0.617																																																0													91.0	68.0	76.0					6																	36979617		2203	4300	6503	SO:0001583	missense	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.514C>T	6.37:g.36979617C>T	ENSP00000274963:p.Arg172Cys		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367099	0.82463	.	.	ENSG00000146192	ENST00000274963	T	0.33865	1.39	5.69	3.86	0.44501	Dbl homology (DH) domain (5);	0.000000	0.45361	D	0.000362	T	0.42988	0.1227	L	0.52759	1.655	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.43972	-0.9358	10	0.59425	D	0.04	1.069	14.5118	0.67791	0.2681:0.7319:0.0:0.0	.	172	Q7Z6J4	FGD2_HUMAN	C	172	ENSP00000274963:R172C	ENSP00000274963:R172C	R	+	1	0	FGD2	37087595	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.879000	0.39618	0.701000	0.31803	0.655000	0.94253	CGC		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		28	35	28	35
COL9A1	1297	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	70972973	70972973	+	Missense_Mutation	SNP	C	C	T	rs148011193		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:70972973C>T	ENST00000357250.6	-	19	1527	c.1369G>A	c.(1369-1371)Gga>Aga	p.G457R	COL9A1_ENST00000370499.4_Missense_Mutation_p.G214R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G214R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	457	Collagen-like 4.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAACTTCTCCGAGTTCTCCC	0.323																																																0								C	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	45.0	47.0	46.0		1369,640	5.5	1.0	6	dbSNP_134	46	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	COL9A1	NM_001851.4,NM_078485.3	125,125	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	457/922,214/679	70972973	2,13002	2203	4299	6502	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1369G>A	6.37:g.70972973C>T	ENSP00000349790:p.Gly457Arg		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607371	0.66558	2.27E-4	1.16E-4	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99637	-6.29;-6.29;-6.29	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.99880	0.9943	H	0.99650	4.68	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	0.96347	0.9255	10	0.87932	D	0	.	17.9365	0.89013	0.0:1.0:0.0:0.0	.	457;214;30	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	R	457;214;214	ENSP00000349790:G457R;ENSP00000315252:G214R;ENSP00000359530:G214R	ENSP00000315252:G214R	G	-	1	0	COL9A1	71029694	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	6.377000	0.73145	2.733000	0.93635	0.650000	0.86243	GGA		0.323	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	17	7	17
SMAP1	60682	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	71501425	71501425	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:71501425G>T	ENST00000370455.3	+	5	696	c.448G>T	c.(448-450)Gta>Tta	p.V150L	SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	150					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TCAGCCTTTGGTATCCTCTCC	0.393																																																0													176.0	166.0	169.0					6																	71501425		1917	4118	6035	SO:0001583	missense	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.448G>T	6.37:g.71501425G>T	ENSP00000359484:p.Val150Leu		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	CCDS43478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.923529|1.923529	0.33908|0.33908	.|.	.|.	ENSG00000112305|ENSG00000112305	ENST00000439432|ENST00000370455;ENST00000370442;ENST00000445046	.|T	.|0.23950	.|1.88	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.808617	.|0.11270	.|N	.|0.581676	T|T	0.10723|0.10723	0.0262|0.0262	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;P	.|0.44006	.|0.824;0.622	.|B;B	.|0.30179	.|0.112;0.112	T|T	0.33085|0.33085	-0.9882|-0.9882	5|10	.|0.29301	.|T	.|0.29	-11.5074|-11.5074	19.4785|19.4785	0.94998|0.94998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|150;150	.|A8K333;Q8IYB5	.|.;SMAP1_HUMAN	V|L	24|150;62;47	.|ENSP00000359484:V150L	.|ENSP00000359471:V62L	G|V	+|+	2|1	0|0	SMAP1|SMAP1	71558146|71558146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	5.390000|5.390000	0.66261|0.66261	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	GGT|GTA		0.393	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		55	70	55	70
KIAA1244	57221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	138575103	138575103	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:138575103G>A	ENST00000251691.4	+	9	918	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCACAGGCGCTTCACGGAC	0.612																																																0													50.0	37.0	41.0					6																	138575103		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.752G>A	6.37:g.138575103G>A	ENSP00000251691:p.Arg251His			Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267147	0.23136	.	.	ENSG00000112379	ENST00000251691	T	0.04862	3.54	5.31	3.38	0.38709	.	0.276177	0.35708	N	0.003026	T	0.00906	0.0030	N	0.02539	-0.55	0.25955	N	0.982709	B	0.32893	0.389	B	0.24974	0.057	T	0.47749	-0.9093	10	0.25106	T	0.35	-24.223	15.4585	0.75336	0.0:0.2625:0.7375:0.0	.	251	Q5TH69	BIG3_HUMAN	H	251	ENSP00000251691:R251H	ENSP00000251691:R251H	R	+	2	0	KIAA1244	138616796	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.033000	0.57282	1.356000	0.45884	-0.176000	0.13171	CGC		0.612	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	10	6	10
HOXA6	3203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	27187208	27187208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:27187208G>T	ENST00000222728.3	-	1	185	c.161C>A	c.(160-162)tCa>tAa	p.S54*	HOXA6_ENST00000521478.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	54					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GAAACAAGGTGAGGTGTACGT	0.612																																																0													50.0	51.0	51.0					7																	27187208		2203	4300	6503	SO:0001587	stop_gained	3203				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.161C>A	7.37:g.27187208G>T	ENSP00000222728:p.Ser54*		A4D192|Q2M3G3|Q9UPM0	Nonsense_Mutation	SNP	ENST00000222728.3	37	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	g	24.0	4.487570	0.84854	.	.	ENSG00000106006	ENST00000222728	.	.	.	4.89	4.89	0.63831	.	1.069550	0.07214	N	0.859766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0742	0.89422	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000222728:S54X	S	-	2	0	HOXA6	27153733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.326000	0.96389	2.243000	0.73865	0.651000	0.88453	TCA		0.612	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1			37	106	37	106
EGFR	1956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	15	Substitution - Missense(15)	central_nervous_system(15)											96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5339	231	5339	231
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T	rs200140697		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:82582077C>T	ENST00000333891.9	-	5	8529	c.8192G>A	c.(8191-8193)cGt>cAt	p.R2731H	PCLO_ENST00000423517.2_Missense_Mutation_p.R2731H|PCLO_ENST00000437081.1_5'Flank	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						TGGTACTGTACGCAAATCAAT	0.353																																																0								C	HIS/ARG,HIS/ARG	1,3719		0,1,1859	58.0	55.0	56.0		8192,8192	5.3	1.0	7		56	0,8208		0,0,4104	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	29,29	0,1,5963	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging,probably-damaging	2731/4936,2731/5143	82582077	1,11927	1860	4104	5964	SO:0001583	missense	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.8192G>A	7.37:g.82582077C>T	ENSP00000334319:p.Arg2731His			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683043	0.29872	2.69E-4	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.36520	1.29;1.25	5.34	5.34	0.76211	.	.	.	.	.	T	0.58906	0.2155	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.61302	-0.7090	9	0.87932	D	0	.	19.0323	0.92961	0.0:1.0:0.0:0.0	.	2731;2731	Q9Y6V0-5;Q9Y6V0-6	.;.	H	2662;2731;2731	ENSP00000334319:R2731H;ENSP00000388393:R2731H	ENSP00000334319:R2731H	R	-	2	0	PCLO	82420013	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.669000	0.68081	2.491000	0.84063	0.655000	0.94253	CGT		0.353	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	21	9	21
TECPR1	25851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	97874267	97874267	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:97874267G>C	ENST00000447648.2	-	4	637	c.338C>G	c.(337-339)tCg>tGg	p.S113W	TECPR1_ENST00000542604.1_Missense_Mutation_p.S34W|TECPR1_ENST00000379795.3_Missense_Mutation_p.S113W			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	113					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGTGCGGCGAGGGCAGTGC	0.617																																																0													39.0	49.0	46.0					7																	97874267		2163	4267	6430	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.338C>G	7.37:g.97874267G>C	ENSP00000404923:p.Ser113Trp		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878379	0.91740	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	D;D;T	0.94457	-3.43;-3.43;1.05	5.26	5.26	0.73747	Ferlin/Peroxisome membrane (1);	0.111409	0.64402	D	0.000006	D	0.97679	0.9239	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98525	1.0625	10	0.87932	D	0	-19.7472	17.8504	0.88746	0.0:0.0:1.0:0.0	.	34;113	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	W	113;113;34	ENSP00000404923:S113W;ENSP00000369121:S113W;ENSP00000441121:S34W	ENSP00000369121:S113W	S	-	2	0	TECPR1	97712203	1.000000	0.71417	0.961000	0.40146	0.919000	0.55068	9.843000	0.99491	2.474000	0.83562	0.555000	0.69702	TCG		0.617	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		10	51	10	51
GAL3ST4	79690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	99758141	99758141	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:99758141G>T	ENST00000360039.4	-	4	1263	c.871C>A	c.(871-873)Ctg>Atg	p.L291M	C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.L229M|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_Silent_p.V189V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.L291M|GAL3ST4_ENST00000423751.1_Silent_p.V189V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	291					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCATGCCAGACCCCACTGG	0.527																																																0													97.0	90.0	92.0					7																	99758141		2203	4300	6503	SO:0001583	missense	79690			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.871C>A	7.37:g.99758141G>T	ENSP00000353142:p.Leu291Met		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448144	0.63178	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.15372	2.43;2.43;2.43	4.82	4.82	0.62117	.	0.690839	0.12624	U	0.452727	T	0.39784	0.1091	L	0.56396	1.775	0.35502	D	0.799883	D;D	0.76494	0.999;0.994	D;D	0.75020	0.985;0.925	T	0.42699	-0.9436	10	0.66056	D	0.02	-5.4195	15.4362	0.75149	0.0:0.0:1.0:0.0	.	229;291	B4DWL8;Q96RP7	.;G3ST4_HUMAN	M	291;291;229	ENSP00000400451:L291M;ENSP00000353142:L291M;ENSP00000398304:L229M	ENSP00000353142:L291M	L	-	1	2	GAL3ST4	99596077	0.013000	0.17824	0.997000	0.53966	0.893000	0.52053	0.082000	0.14847	2.518000	0.84900	0.511000	0.50034	CTG		0.527	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		67	177	67	177
SOX17	64321	hgsc.bcm.edu;broad.mit.edu	37	8	55370802	55370802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55370802C>A	ENST00000297316.4	+	1	308	c.104C>A	c.(103-105)tCg>tAg	p.S35*		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	35					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TGGGCCGAGTCGCTGAGCCCC	0.741																																																0													6.0	8.0	7.0					8																	55370802		2102	4118	6220	SO:0001587	stop_gained	64321			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.104C>A	8.37:g.55370802C>A	ENSP00000297316:p.Ser35*			Nonsense_Mutation	SNP	ENST00000297316.4	37	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	C	39	7.750214	0.98468	.	.	ENSG00000164736	ENST00000297316	.	.	.	4.36	4.36	0.52297	.	0.216624	0.39909	N	0.001231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	17.0454	0.86501	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000297316:S35X	S	+	2	0	SOX17	55533355	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	5.138000	0.64795	2.407000	0.81776	0.561000	0.74099	TCG		0.741	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			9	14	9	14
SOX17	64321	hgsc.bcm.edu;broad.mit.edu	37	8	55370804	55370804	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55370804C>T	ENST00000297316.4	+	1	310	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	36					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGCCGAGTCGCTGAGCCCCAT	0.746																																																0													6.0	8.0	7.0					8																	55370804		2107	4124	6231	SO:0001819	synonymous_variant	64321			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.106C>T	8.37:g.55370804C>T				Silent	SNP	ENST00000297316.4	37	CCDS6159.1																																																																																				0.746	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			9	17	9	17
RP1	6101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	55538939	55538939	+	Missense_Mutation	SNP	T	T	A	rs374856454		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55538939T>A	ENST00000220676.1	+	4	2645	c.2497T>A	c.(2497-2499)Ttt>Att	p.F833I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	833					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCAAAGATTTTTATGCACC	0.323																																					Colon(91;1014 1389 7634 14542 40420)											0													41.0	45.0	44.0					8																	55538939		2198	4295	6493	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2497T>A	8.37:g.55538939T>A	ENSP00000220676:p.Phe833Ile			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	8.749	0.920863	0.17982	.	.	ENSG00000104237	ENST00000220676	T	0.56444	0.46	5.38	5.38	0.77491	.	0.520286	0.17733	N	0.163827	T	0.45597	0.1350	L	0.60455	1.87	0.09310	N	1	P	0.39809	0.689	B	0.37144	0.242	T	0.53809	-0.8386	10	0.66056	D	0.02	.	5.7597	0.18192	0.0:0.0859:0.171:0.743	.	833	P56715	RP1_HUMAN	I	833	ENSP00000220676:F833I	ENSP00000220676:F833I	F	+	1	0	RP1	55701492	0.017000	0.18338	0.040000	0.18447	0.012000	0.07955	0.343000	0.19944	2.029000	0.59856	0.383000	0.25322	TTT		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		14	22	14	22
PLEC	5339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144995970	144995970	+	Silent	SNP	C	C	T	rs374178650	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:144995970C>T	ENST00000322810.4	-	32	8599	c.8430G>A	c.(8428-8430)gcG>gcA	p.A2810A	PLEC_ENST00000354958.2_Silent_p.A2651A|PLEC_ENST00000527096.1_Silent_p.A2696A|PLEC_ENST00000356346.3_Silent_p.A2659A|PLEC_ENST00000398774.2_Silent_p.A2641A|PLEC_ENST00000345136.3_Silent_p.A2673A|PLEC_ENST00000357649.2_Silent_p.A2677A|PLEC_ENST00000354589.3_Silent_p.A2673A|PLEC_ENST00000436759.2_Silent_p.A2700A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2810	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTGGCCCTGCGCCAACCGCT	0.682													T|||	4	0.000798722	0.0	0.0	5008	,	,		16905	0.004		0.0	False		,,,				2504	0.0															0								T	,,,,,,,	0,4298		0,0,2149	24.0	27.0	26.0		8100,7977,7953,8430,7923,8019,8031,8019	-6.6	0.0	8		26	2,8498		0,2,4248	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,2,6397	TT,TC,CC		0.0235,0.0,0.0156	,,,,,,,	2700/4575,2659/4534,2651/4526,2810/4685,2641/4516,2673/4548,2677/4552,2673/4548	144995970	2,12796	2149	4250	6399	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8430G>A	8.37:g.144995970C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																				0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		46	40	46	40
PRRC2B	84726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	134353210	134353210	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:134353210G>A	ENST00000357304.4	+	16	4541	c.4486G>A	c.(4486-4488)Gca>Aca	p.A1496T	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.A802T|PRRC2B_ENST00000405995.1_Missense_Mutation_p.A802T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1496							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCTGGAGCGGGCAGCCCATGC	0.607																																																0													35.0	40.0	38.0					9																	134353210		2010	4161	6171	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4486G>A	9.37:g.134353210G>A	ENSP00000349856:p.Ala1496Thr		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.494|7.494	0.651300|0.651300	0.14516|0.14516	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550|ENST00000418650;ENST00000451855	T;T;T|.	0.02763|.	4.17;4.54;4.17|.	4.79|4.79	3.88|3.88	0.44766|0.44766	.|.	0.359655|.	0.19239|.	N|.	0.119218|.	T|T	0.28101|0.28101	0.0693|0.0693	N|N	0.04203|0.04203	-0.255|-0.255	0.80722|0.80722	D|D	1|1	B;B|.	0.10296|.	0.003;0.002|.	B;B|.	0.09377|.	0.003;0.004|.	T|T	0.12553|0.12553	-1.0543|-1.0543	10|6	0.22109|0.52906	T|T	0.4|0.07	-19.2367|-19.2367	6.8951|6.8951	0.24251|0.24251	0.0907:0.0:0.7366:0.1727|0.0907:0.0:0.7366:0.1727	.|.	229;1496|.	Q5JSZ8;Q5JSZ5|.	.;PRC2B_HUMAN|.	T|D	802;1496;802|791;229	ENSP00000384606:A802T;ENSP00000349856:A1496T;ENSP00000398853:A802T|.	ENSP00000349856:A1496T|ENSP00000392384:G791D	A|G	+|+	1|2	0|0	PRRC2B|PRRC2B	133343031|133343031	0.058000|0.058000	0.20735|0.20735	0.864000|0.864000	0.33941|0.33941	0.072000|0.072000	0.16883|0.16883	0.484000|0.484000	0.22308|0.22308	1.112000|1.112000	0.41740|0.41740	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				19	11	19	11
TEX13A	56157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	104464686	104464686	+	Silent	SNP	G	G	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chrX:104464686G>T	ENST00000413579.1	-	2	507	c.396C>A	c.(394-396)gcC>gcA	p.A132A	TEX13A_ENST00000372578.3_Silent_p.A132A|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.A132A			Q9BXU3	TX13A_HUMAN	testis expressed 13A	132							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGCTGGTCTGGGCCATTCTTA	0.592																																																0													36.0	37.0	36.0					X																	104464686		2133	4216	6349	SO:0001819	synonymous_variant	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.396C>A	X.37:g.104464686G>T			B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37																																																																																					0.592	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		21	0	21	0
PLXNA3	55558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153693430	153693430	+	Missense_Mutation	SNP	C	C	T	rs201083788		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chrX:153693430C>T	ENST00000369682.3	+	11	2288	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	705					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTACCTTGCGGGCTAAGAA	0.647													C|||	2	0.000529801	0.0	0.0	3775	,	,		11765	0.001		0.001	False		,,,				2504	0.0															0													42.0	37.0	39.0					X																	153693430		2199	4297	6496	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2113C>T	X.37:g.153693430C>T	ENSP00000358696:p.Arg705Trp		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.5	3.993450	0.74703	.	.	ENSG00000130827	ENST00000369682	T	0.01015	5.44	5.42	4.54	0.55810	.	0.061993	0.64402	D	0.000005	T	0.02929	0.0087	M	0.63843	1.955	0.48135	D	0.999598	D	0.69078	0.997	P	0.55260	0.772	T	0.51756	-0.8665	10	0.87932	D	0	.	11.604	0.51020	0.3227:0.6773:0.0:0.0	.	705	P51805	PLXA3_HUMAN	W	705	ENSP00000358696:R705W	ENSP00000358696:R705W	R	+	1	2	PLXNA3	153346624	0.001000	0.12720	0.992000	0.48379	0.902000	0.53008	0.056000	0.14256	1.139000	0.42245	0.529000	0.55759	CGG		0.647	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		28	0	28	0
COL5A1	1289	broad.mit.edu;ucsc.edu	37	9	137701113	137701113	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:137701113C>A	ENST00000371817.3	+	43	3865	c.3451C>A	c.(3451-3453)Ccc>Acc	p.P1151T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1151	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTGTGGGTCCCCCTGGAGA	0.632																																																0													20.0	22.0	22.0					9																	137701113		2199	4298	6497	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3451C>A	9.37:g.137701113C>A	ENSP00000360882:p.Pro1151Thr		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075778	0.36662	.	.	ENSG00000130635	ENST00000371817	D	0.98666	-5.06	3.75	2.82	0.32997	.	0.000000	0.85682	U	0.000000	D	0.97420	0.9156	M	0.75777	2.31	0.47862	D	0.999539	B	0.20052	0.041	B	0.21917	0.037	D	0.95617	0.8677	10	0.34782	T	0.22	.	13.2108	0.59822	0.0:0.8384:0.1616:0.0	.	1151	P20908	CO5A1_HUMAN	T	1151	ENSP00000360882:P1151T	ENSP00000360882:P1151T	P	+	1	0	COL5A1	136840934	1.000000	0.71417	0.995000	0.50966	0.800000	0.45204	4.733000	0.62036	0.671000	0.31185	0.643000	0.83706	CCC		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	8	4	8
COL22A1	169044	broad.mit.edu;ucsc.edu	37	8	139890331	139890331	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:139890331C>T	ENST00000303045.6	-	3	766	c.320G>A	c.(319-321)cGt>cAt	p.R107H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R107H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	107	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R107H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTAGGCGAGACGCCGGGCAGC	0.721										HNSCC(7;0.00092)																																						1	Substitution - Missense(1)	large_intestine(1)											16.0	18.0	17.0					8																	139890331		2183	4259	6442	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.320G>A	8.37:g.139890331C>T	ENSP00000303153:p.Arg107His		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050290	0.36181	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.78816	-1.21;-1.21	5.28	-4.2	0.03823	von Willebrand factor, type A (3);	2.223100	0.02193	N	0.061529	T	0.63414	0.2509	L	0.38733	1.17	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.37384	-0.9708	9	.	.	.	.	2.6432	0.04977	0.1187:0.1849:0.118:0.5784	.	107	Q8NFW1	COMA1_HUMAN	H	107	ENSP00000303153:R107H;ENSP00000387655:R107H	.	R	-	2	0	COL22A1	139959513	0.999000	0.42202	0.000000	0.03702	0.184000	0.23303	1.571000	0.36450	-0.555000	0.06142	0.585000	0.79938	CGT		0.721	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	6	6	6
GRM4	2914	broad.mit.edu;ucsc.edu	37	6	34004320	34004320	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:34004320G>A	ENST00000538487.2	-	9	2010	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	GRM4_ENST00000544773.2_Missense_Mutation_p.P354S|GRM4_ENST00000374181.4_Missense_Mutation_p.P523S|GRM4_ENST00000374177.3_Missense_Mutation_p.P407S|GRM4_ENST00000609222.1_Missense_Mutation_p.P390S|GRM4_ENST00000455714.2_Missense_Mutation_p.P383S|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.P390S	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	523					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGTTGGCAGGGCAGGCTGCAG	0.632																																																0													46.0	41.0	42.0					6																	34004320		2203	4300	6503	SO:0001583	missense	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1567C>T	6.37:g.34004320G>A	ENSP00000440556:p.Pro523Ser		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273270	0.80580	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	4.79	4.79	0.61399	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	L	0.46670	1.46	0.80722	D	1	P;P;D;D;P	0.89917	0.587;0.6;1.0;1.0;0.888	B;B;D;D;P	0.91635	0.326;0.31;0.998;0.999;0.649	D	0.87789	0.2617	10	0.25106	T	0.35	.	17.6327	0.88113	0.0:0.0:1.0:0.0	.	476;354;383;523;390	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	S	523;407;215;390;354;523;383	ENSP00000363296:P523S;ENSP00000363292:P407S;ENSP00000445533:P215S;ENSP00000437925:P390S;ENSP00000437730:P354S;ENSP00000440556:P523S;ENSP00000398456:P383S	ENSP00000363292:P407S	P	-	1	0	GRM4	34112298	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.750000	0.85110	2.481000	0.83766	0.551000	0.68910	CCC		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			36	41	36	41
C9	735	broad.mit.edu;ucsc.edu	37	5	39364519	39364519	+	Silent	SNP	T	T	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:39364519T>A	ENST00000263408.4	-	1	143	c.48A>T	c.(46-48)atA>atT	p.I16I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	16					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGAGGATGCTTATTTCTAAAA	0.512																																																0													107.0	95.0	99.0					5																	39364519		2203	4300	6503	SO:0001819	synonymous_variant	735				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.48A>T	5.37:g.39364519T>A				Silent	SNP	ENST00000263408.4	37	CCDS3929.1																																																																																				0.512	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			7	18	7	18
OR2T3	343173	broad.mit.edu;ucsc.edu	37	1	248637422	248637422	+	Silent	SNP	C	C	T			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:248637422C>T	ENST00000359594.2	+	1	796	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGCTCTTCGGTGCTTCCT	0.552																																																0													277.0	253.0	261.0					1																	248637422		2203	4300	6503	SO:0001819	synonymous_variant	343173				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.771C>T	1.37:g.248637422C>T			B2RNJ1	Silent	SNP	ENST00000359594.2	37	CCDS31117.1																																																																																				0.552	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		41	318	41	318
GPR98	84059	broad.mit.edu;ucsc.edu	37	5	89933730	89933730	+	Silent	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:89933730G>A	ENST00000405460.2	+	11	2301	c.2205G>A	c.(2203-2205)ccG>ccA	p.P735P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	735	Calx-beta 5. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGACATACCGGAAATGAATG	0.353																																																0													95.0	86.0	89.0					5																	89933730		1846	4085	5931	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2205G>A	5.37:g.89933730G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	6.348	0.432328	0.12045	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.61	-11.2	0.00127	.	.	.	.	.	T	0.57242	0.2040	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71119	-0.4685	4	.	.	.	.	14.1846	0.65598	0.7102:0.0:0.1544:0.1354	.	.	.	.	R	324	.	.	G	+	1	0	GPR98	89969486	0.000000	0.05858	0.042000	0.18584	0.831000	0.47069	-2.171000	0.01267	-2.646000	0.00426	-0.806000	0.03193	GGA		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		23	35	23	35
FBN2	2201	broad.mit.edu;ucsc.edu	37	5	127800539	127800539	+	Missense_Mutation	SNP	G	G	A	rs367767903	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:127800539G>A	ENST00000508053.1	-	12	1678	c.704C>T	c.(703-705)aCg>aTg	p.T235M	FBN2_ENST00000262464.4_Missense_Mutation_p.T235M|FBN2_ENST00000508989.1_Missense_Mutation_p.T202M			P35556	FBN2_HUMAN	fibrillin 2	235	TB 1.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGAGTCTTCGTGCAGACAAT	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		18376	0.0		0.0	False		,,,				2504	0.002															0								G	MET/THR	0,4406		0,0,2203	88.0	84.0	85.0		704	4.8	1.0	5		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	235/2913	127800539	1,13005	2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.704C>T	5.37:g.127800539G>A	ENSP00000424571:p.Thr235Met		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280855	0.80692	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	4.82	4.82	0.62117	Matrix fibril-associated (3);TGF-beta binding (1);	0.083720	0.48286	D	0.000184	D	0.97340	0.9130	M	0.68593	2.085	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.973;0.996;0.971;0.95	D	0.97766	1.0223	10	0.66056	D	0.02	.	18.7725	0.91898	0.0:0.0:1.0:0.0	.	202;235;202;235	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	M	235;235;202;235	ENSP00000262464:T235M;ENSP00000424571:T235M;ENSP00000425596:T202M;ENSP00000424753:T235M	ENSP00000262464:T235M	T	-	2	0	FBN2	127828438	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	7.771000	0.85420	2.608000	0.88229	0.484000	0.47621	ACG		0.577	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		39	60	39	60
CSNK1A1P1	161635	broad.mit.edu;ucsc.edu	37	15	37109983	37109983	+	RNA	SNP	G	G	A			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:37109983G>A	ENST00000430593.3	-	0	677					NR_027320.1				casein kinase 1, alpha 1 pseudogene 1																		CAATTCTACTGATCATCTGGT	0.383																																																0																																												161635			BC028192		15q13.3	2010-09-21	2010-07-20	2010-07-20		ENSG00000223518			30446	pseudogene	pseudogene			"""casein kinase 1, alpha 1 pseudogene"""	CSNK1A1P			Standard	NR_027320		Approved		uc001zjg.4				15.37:g.37109983G>A				RNA	SNP	ENST00000430593.3	37																																																																																					0.383	CSNK1A1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419759.1	NR_027320		10	20	10	20
RELN	5649	broad.mit.edu;ucsc.edu	37	7	103163890	103163890	+	Missense_Mutation	SNP	C	C	T	rs150236371	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:103163890C>T	ENST00000428762.1	-	47	7597	c.7438G>A	c.(7438-7440)Ggc>Agc	p.G2480S	RELN_ENST00000424685.2_Missense_Mutation_p.G2480S|RELN_ENST00000343529.5_Missense_Mutation_p.G2480S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2480	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTATGCAGCCATCCCCGATA	0.473													C|||	7	0.00139776	0.0	0.0029	5008	,	,		18684	0.0		0.003	False		,,,				2504	0.002				NSCLC(146;835 1944 15585 22231 52158)											0								C	SER/GLY,SER/GLY	4,4402	8.1+/-20.4	0,4,2199	164.0	150.0	155.0		7438,7438	4.7	0.9	7	dbSNP_134	155	25,8575	17.3+/-56.4	0,25,4275	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	56,56	0,29,6474	TT,TC,CC		0.2907,0.0908,0.223	probably-damaging,probably-damaging	2480/3461,2480/3459	103163890	29,12977	2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7438G>A	7.37:g.103163890C>T	ENSP00000392423:p.Gly2480Ser		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	24.9	4.578352	0.86645	9.08E-4	0.002907	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21191	2.02;2.02;2.02	5.55	4.68	0.58851	Neuraminidase (1);	0.106857	0.64402	N	0.000005	T	0.25044	0.0608	N	0.16833	0.445	0.53688	D	0.999971	D;B	0.63046	0.992;0.262	P;B	0.58820	0.846;0.221	T	0.03493	-1.1031	10	0.30854	T	0.27	.	14.0575	0.64779	0.0:0.9281:0.0:0.0719	.	2480;2480	P78509-2;P78509	.;RELN_HUMAN	S	2480	ENSP00000392423:G2480S;ENSP00000345694:G2480S;ENSP00000388446:G2480S	ENSP00000345694:G2480S	G	-	1	0	RELN	102951126	1.000000	0.71417	0.886000	0.34754	0.991000	0.79684	5.780000	0.68956	1.335000	0.45486	0.655000	0.94253	GGC		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		63	154	63	154
SUSD3	203328	broad.mit.edu;hgsc.bcm.edu	37	9	95838087	95838087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:95838087delT	ENST00000375472.3	+	2	146	c.110delT	c.(109-111)ctafs	p.L37fs	SUSD3_ENST00000375469.1_Frame_Shift_Del_p.L24fs	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	37	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGCTGCGGCTACCCCCGCAA	0.677																																																0													67.0	52.0	57.0					9																	95838087		2203	4300	6503	SO:0001589	frameshift_variant	203328			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.110delT	9.37:g.95838087delT	ENSP00000364621:p.Leu37fs		Q49AA6|Q6UXV7	Frame_Shift_Del	DEL	ENST00000375472.3	37	CCDS6701.1																																																																																				0.677	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		23	53	23	53
KLHDC1	122773	broad.mit.edu;hgsc.bcm.edu	37	14	50206884	50206885	+	Frame_Shift_Ins	INS	-	-	A	rs201507697		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:50206884_50206885insA	ENST00000359332.2	+	11	1055_1056	c.965_966insA	c.(964-969)ttacttfs	p.L323fs	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	323						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AAAGATGACTTACTTGCCTTGG	0.332																																																0																																										SO:0001589	frameshift_variant	122773			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.966dupA	14.37:g.50206885_50206885dupA	ENSP00000352282:p.Leu323fs		B3KXD9|Q8WYI1	Frame_Shift_Ins	INS	ENST00000359332.2	37	CCDS9692.1																																																																																				0.332	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		18	23	18	23
SDK2	54549	broad.mit.edu;hgsc.bcm.edu	37	17	71344740	71344741	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:71344740_71344741delGA	ENST00000392650.3	-	44	6162_6163	c.6162_6163delTC	c.(6160-6165)tctcagfs	p.Q2055fs	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Frame_Shift_Del_p.Q2036fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2055					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCCTCACCTGAGAGTCGGAGA	0.594																																																0																																										SO:0001589	frameshift_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6162_6163delTC	17.37:g.71344742_71344743delGA	ENSP00000376421:p.Gln2055fs		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Del	DEL	ENST00000392650.3	37	CCDS45769.1																																																																																				0.594	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		12	22	12	22
