#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
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	16883005	16883005	+	Silent	SNP	C	C	T	rs370784621	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:16883005C>T	ENST00000377833.4	-	61	9770	c.9705G>A	c.(9703-9705)acG>acA	p.T3235T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3235	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCACAAAACGTTCCAGCCA	0.363													c|||	2	0.000399361	0.0015	0.0	5008	,	,		18072	0.0		0.0	False		,,,				2504	0.0															0								T		3,4403	6.2+/-15.9	0,3,2200	101.0	90.0	94.0		9705	-3.9	0.0	10		94	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		3235/3624	16883005	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9705G>A	10.37:g.16883005C>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.363	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		17	110	17	110
MYO3A	53904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	26243813	26243813	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:26243813A>G	ENST00000265944.5	+	4	345	c.179A>G	c.(178-180)gAa>gGa	p.E60G	MYO3A_ENST00000376302.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376301.1_Missense_Mutation_p.E60G|MYO3A_ENST00000543632.1_Missense_Mutation_p.E60G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATATTGACGAAGAGATTGAA	0.318																																																0													103.0	107.0	105.0					10																	26243813		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.179A>G	10.37:g.26243813A>G	ENSP00000265944:p.Glu60Gly		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842740	0.91197	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	6.0	6.0	0.97389	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.63208	1.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.995;1.0;0.998	T	0.81897	-0.0722	10	0.72032	D	0.01	.	16.511	0.84284	1.0:0.0:0.0:0.0	.	60;60;60;60	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	G	60	ENSP00000265944:E60G;ENSP00000365479:E60G;ENSP00000445909:E60G;ENSP00000365478:E60G	ENSP00000265944:E60G	E	+	2	0	MYO3A	26283819	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.490000	0.81461	2.304000	0.77564	0.523000	0.50628	GAA		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		21	287	21	287
PSD	5662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	104173754	104173754	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:104173754A>C	ENST00000020673.5	-	5	1851	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.F442C	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	442	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCAGCTCAAAGGTGAAGAA	0.652																																																0													52.0	64.0	60.0					10																	104173754		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1325T>G	10.37:g.104173754A>C	ENSP00000020673:p.Phe442Cys		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414875	0.83449	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.55052	0.54;0.54	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	L	0.36672	1.1	0.40153	D	0.976973	D	0.76494	0.999	P	0.61592	0.891	T	0.65874	-0.6062	10	0.72032	D	0.01	.	15.1215	0.72447	1.0:0.0:0.0:0.0	.	442	A5PKW4	PSD1_HUMAN	C	442;345;442	ENSP00000020673:F442C;ENSP00000384830:F442C	ENSP00000020673:F442C	F	-	2	0	PSD	104163744	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.905000	0.92613	1.978000	0.57642	0.454000	0.30748	TTT		0.652	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			11	117	11	117
GAS2	2620	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	22747932	22747932	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:22747932G>A	ENST00000454584.2	+	4	667	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	GAS2_ENST00000433790.1_Missense_Mutation_p.R121Q|GAS2_ENST00000278187.3_Missense_Mutation_p.R121Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	121	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCCTGGTGCCGAGATTTAGGG	0.398																																																0													157.0	160.0	159.0					11																	22747932		2203	4300	6503	SO:0001583	missense	2620			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.362G>A	11.37:g.22747932G>A	ENSP00000401145:p.Arg121Gln		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678019	0.88445	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	D;D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.74	5.74	0.90152	Calponin homology domain (5);	0.057879	0.64402	D	0.000003	D	0.97324	0.9125	M	0.77712	2.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.97295	0.9927	10	0.62326	D	0.03	-8.6225	19.9329	0.97127	0.0:0.0:1.0:0.0	.	121	O43903	GAS2_HUMAN	Q	121	ENSP00000432584:R121Q;ENSP00000401145:R121Q;ENSP00000434478:R121Q;ENSP00000278187:R121Q;ENSP00000433182:R121Q;ENSP00000435946:R121Q;ENSP00000396708:R121Q	ENSP00000278187:R121Q	R	+	2	0	GAS2	22704508	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	CGA		0.398	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		15	150	15	150
OR1S1	219959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	57982589	57982589	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:57982589A>T	ENST00000309433.6	+	1	373	c.373A>T	c.(373-375)Aat>Tat	p.N125Y		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CGTCATTGACAATTTGCTCTT	0.453																																																0													183.0	173.0	176.0					11																	57982589		2201	4296	6497	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.373A>T	11.37:g.57982589A>T	ENSP00000311688:p.Asn125Tyr		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	A	9.487	1.099727	0.20552	.	.	ENSG00000172774	ENST00000309433	T	0.00484	7.08	3.45	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.262894	0.26863	N	0.022107	T	0.00754	0.0025	L	0.48935	1.535	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.52260	-0.8599	10	0.66056	D	0.02	.	7.7891	0.29110	0.5901:0.0:0.0:0.4099	.	125	Q8NH92	OR1S1_HUMAN	Y	125	ENSP00000311688:N125Y	ENSP00000311688:N125Y	N	+	1	0	OR1S1	57739165	0.000000	0.05858	0.943000	0.38184	0.134000	0.20937	0.005000	0.13129	1.443000	0.47586	0.392000	0.25879	AAT		0.453	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		176	262	176	262
OAF	220323	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	120097624	120097624	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:120097624C>G	ENST00000328965.4	+	3	979	c.466C>G	c.(466-468)Ccc>Gcc	p.P156A	OAF_ENST00000531220.1_Missense_Mutation_p.P40A	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	156						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGCTGAGCCCCCATCTCCA	0.642																																																0													64.0	56.0	59.0					11																	120097624		2203	4300	6503	SO:0001583	missense	220323			BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.466C>G	11.37:g.120097624C>G	ENSP00000332613:p.Pro156Ala			Missense_Mutation	SNP	ENST00000328965.4	37	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	C	8.837	0.941253	0.18281	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.27104	1.69;1.69	5.43	5.43	0.79202	.	0.256940	0.40728	N	0.001028	T	0.15955	0.0384	N	0.21583	0.68	0.34263	D	0.680103	B	0.16603	0.018	B	0.10450	0.005	T	0.20538	-1.0272	10	0.16896	T	0.51	-9.6503	10.3913	0.44171	0.0:0.8801:0.0:0.1199	.	156	Q86UD1	OAF_HUMAN	A	156;40	ENSP00000332613:P156A;ENSP00000431865:P40A	ENSP00000332613:P156A	P	+	1	0	OAF	119602834	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.779000	0.26746	2.532000	0.85374	0.561000	0.74099	CCC		0.642	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		54	78	54	78
SLCO1B7	338821	hgsc.bcm.edu;ucsc.edu	37	12	21205042	21205042	+	Silent	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:21205042A>C	ENST00000421593.2	+	9	1203	c.1203A>C	c.(1201-1203)gtA>gtC	p.V401V	RP11-125O5.2_ENST00000590779.1_5'Flank|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Silent_p.V448V|SLCO1B7_ENST00000554957.1_Silent_p.V448V|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	401						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATAGTCCAGTAAGATCTCATG	0.388																																																0													90.0	89.0	90.0					12																	21205042		2203	4299	6502	SO:0001819	synonymous_variant	338821			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1203A>C	12.37:g.21205042A>C			Q71QF0	Silent	SNP	ENST00000421593.2	37	CCDS44843.1																																																																																				0.388	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		25	127	25	127
ADAMTS20	80070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	43925953	43925953	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:43925953T>C	ENST00000389420.3	-	3	498	c.499A>G	c.(499-501)Ata>Gta	p.I167V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I167V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	167					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCTTCATTATAGGTTCTAAG	0.343																																																0													145.0	145.0	145.0					12																	43925953		2202	4300	6502	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.499A>G	12.37:g.43925953T>C	ENSP00000374071:p.Ile167Val		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	6.342	0.431243	0.12045	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05447	3.44;3.44	4.84	-2.28	0.06826	Peptidase M12B, propeptide (1);	0.832628	0.10117	N	0.713910	T	0.02119	0.0066	N	0.04203	-0.255	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.48969	-0.8987	10	0.20046	T	0.44	.	0.3053	0.00279	0.3376:0.1773:0.2667:0.2183	.	167	P59510	ATS20_HUMAN	V	167	ENSP00000374071:I167V;ENSP00000448341:I167V	ENSP00000374068:I167V	I	-	1	0	ADAMTS20	42212220	0.594000	0.26849	0.565000	0.28409	0.485000	0.33311	-0.564000	0.05936	-0.153000	0.11137	-0.336000	0.08194	ATA		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		13	154	13	154
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		75	13	75	13
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10309482	10309482	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:10309482C>G	ENST00000403437.2	-	21	2402	c.2308G>C	c.(2308-2310)Gct>Cct	p.A770P	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	770	Actin-binding.|Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGTCCAGCTTTGAAGAAA	0.403									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													95.0	91.0	92.0					17																	10309482		2203	4300	6503	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2308G>C	17.37:g.10309482C>G	ENSP00000384330:p.Ala770Pro		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782079	0.90282	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.74002	-0.8	5.22	5.22	0.72569	Myosin head, motor domain (1);	0.000000	0.41396	U	0.000883	D	0.87621	0.6223	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88958	0.3391	10	0.87932	D	0	.	18.9728	0.92722	0.0:1.0:0.0:0.0	.	770	P13535	MYH8_HUMAN	P	770	ENSP00000384330:A770P	ENSP00000252173:A770P	A	-	1	0	MYH8	10250207	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.609000	0.82925	2.732000	0.93576	0.650000	0.86243	GCT		0.403	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		50	82	50	82
UNC45B	146862	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	33482401	33482401	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:33482401C>T	ENST00000268876.5	+	7	823	c.726C>T	c.(724-726)tgC>tgT	p.C242C	UNC45B_ENST00000433649.1_Silent_p.C242C|UNC45B_ENST00000378449.1_Silent_p.C242C|UNC45B_ENST00000591048.1_Silent_p.C242C|UNC45B_ENST00000394570.2_Silent_p.C242C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	242					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCTGTCTGCAACCTGCTCC	0.552																																																0													188.0	139.0	156.0					17																	33482401		2203	4300	6503	SO:0001819	synonymous_variant	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.726C>T	17.37:g.33482401C>T			Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	CCDS11292.1																																																																																				0.552	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		25	211	25	211
GAS2L2	246176	hgsc.bcm.edu;broad.mit.edu	37	17	34072135	34072135	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:34072135C>T	ENST00000254466.6	-	6	2408	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	794					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632																																																0													72.0	78.0	76.0					17																	34072135		2203	4300	6503	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2381G>A	17.37:g.34072135C>T	ENSP00000254466:p.Arg794Gln		Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615895	0.66672	.	.	ENSG00000132139	ENST00000254466	T	0.33216	1.42	4.79	4.79	0.61399	.	0.297654	0.26200	N	0.025754	T	0.46190	0.1380	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.34775	-0.9815	10	0.72032	D	0.01	-13.8801	16.5704	0.84611	0.0:1.0:0.0:0.0	.	794	Q8NHY3	GA2L2_HUMAN	Q	794	ENSP00000254466:R794Q	ENSP00000254466:R794Q	R	-	2	0	GAS2L2	31096248	0.044000	0.20184	0.272000	0.24630	0.443000	0.32047	1.415000	0.34748	2.496000	0.84212	0.561000	0.74099	CGA		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		18	285	18	285
AMY2B	280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	104115689	104115689	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:104115689G>A	ENST00000361355.4	+	5	936	c.320G>A	c.(319-321)cGt>cAt	p.R107H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	107					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTCTAGGTTCGTATTTATGTG	0.368																																																0													363.0	354.0	357.0					1																	104115689		2203	4300	6503	SO:0001583	missense	280			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.320G>A	1.37:g.104115689G>A	ENSP00000354610:p.Arg107His		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893834	0.33442	.	.	ENSG00000240038	ENST00000361355	D	0.98419	-4.92	4.58	-0.538	0.11868	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.465814	0.25590	N	0.029626	D	0.94225	0.8146	M	0.74258	2.255	0.18873	N	0.999983	B	0.20550	0.046	B	0.23018	0.043	D	0.91594	0.5289	10	0.56958	D	0.05	.	9.1803	0.37138	0.6564:0.0:0.3436:0.0	.	107	P19961	AMY2B_HUMAN	H	107	ENSP00000354610:R107H	ENSP00000354610:R107H	R	+	2	0	AMY2B	103917212	0.002000	0.14202	0.922000	0.36590	0.715000	0.41141	0.712000	0.25779	0.006000	0.14734	-0.151000	0.13558	CGT		0.368	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		148	856	148	856
TRIM46	80128	hgsc.bcm.edu;broad.mit.edu	37	1	155160204	155160204	+	IGR	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:155160204C>T	ENST00000334634.4	+	0	3061				MUC1_ENST00000368395.1_Missense_Mutation_p.V359I|MUC1_ENST00000368398.3_Missense_Mutation_p.V114I|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000338684.5_Missense_Mutation_p.V108I|MUC1_ENST00000368393.3_Missense_Mutation_p.V157I|MUC1_ENST00000438413.1_Missense_Mutation_p.V113I|MUC1_ENST00000368392.3_Missense_Mutation_p.V148I|MUC1_ENST00000337604.5_Missense_Mutation_p.V157I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000457295.2_Missense_Mutation_p.V148I|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368390.3_Missense_Mutation_p.V139I|MUC1_ENST00000343256.5_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCGCTGACGTCTGAGATC	0.577																																																0													48.0	45.0	46.0					1																	155160204		2199	4298	6497	SO:0001628	intergenic_variant	4582				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155160204C>T			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192210	0.38707	.	.	ENSG00000185499	ENST00000368395;ENST00000338684;ENST00000368392;ENST00000438413;ENST00000457295;ENST00000368393;ENST00000425082;ENST00000368398;ENST00000368390;ENST00000337604	T;T;T;T;T;T;T;T;T	0.48522	1.56;1.56;1.56;1.56;1.56;0.81;1.56;1.56;1.56	3.82	-6.77	0.01727	.	1.649920	0.03959	N	0.289795	T	0.25269	0.0614	N	0.21373	0.66	0.09310	N	1	P;D;B;B;P;B;B;B;B;B;P;B;B;B;B;B;B;D;B;B;B;B;B;B	0.56746	0.919;0.977;0.001;0.062;0.865;0.011;0.006;0.008;0.003;0.045;0.929;0.08;0.099;0.046;0.025;0.025;0.0;0.971;0.226;0.077;0.001;0.226;0.024;0.029	B;P;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;P;B;B;B;B;B;B	0.58391	0.184;0.622;0.001;0.021;0.129;0.041;0.003;0.01;0.013;0.024;0.777;0.047;0.041;0.036;0.031;0.024;0.001;0.838;0.03;0.036;0.001;0.03;0.034;0.017	T	0.34750	-0.9816	10	0.44086	T	0.13	-6.4374	7.2493	0.26140	0.0:0.3121:0.1233:0.5645	.	1148;139;1136;157;1127;166;108;445;445;359;166;123;125;122;127;101;148;157;114;157;148;114;113;139	P15941-2;B6ECB2;P15941-3;P15941-8;P15941-4;B6ECA3;A5YRV1;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZID7;A6ZID6;A5YRV0;A5YRU8;A5YRV2;A5YRU7;A6ZID9;P15941-6;B1AVR0;Q0VAP5;A6ZIE0;B1AVQ7;Q0VAP6	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	I	359;108;148;113;148;157;445;114;139;157	ENSP00000357380:V359I;ENSP00000343482:V108I;ENSP00000357377:V148I;ENSP00000389098:V113I;ENSP00000388172:V148I;ENSP00000357378:V157I;ENSP00000357383:V114I;ENSP00000357375:V139I;ENSP00000338983:V157I	ENSP00000338983:V157I	V	-	1	0	MUC1	153426828	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.384000	0.01063	-1.611000	0.01581	-1.332000	0.01269	GTC		0.577	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		7	78	7	78
AIM2	9447	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	159035847	159035847	+	Silent	SNP	G	G	A	rs148686373		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:159035847G>A	ENST00000368130.4	-	4	957	c.669C>T	c.(667-669)agC>agT	p.S223S	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	223	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CACGTGAGGCGCTATTTACCT	0.368																																																0								A		0,4406		0,0,2203	122.0	122.0	122.0		669	-5.0	0.0	1	dbSNP_134	122	2,8598	819.1+/-406.8	0,2,4298	no	coding-synonymous	AIM2	NM_004833.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		223/344	159035847	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.669C>T	1.37:g.159035847G>A			A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	ENST00000368130.4	37	CCDS1181.1																																																																																				0.368	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		34	343	34	343
SIRPD	128646	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	1517834	1517834	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:1517834G>T	ENST00000381623.3	-	3	1733	c.544C>A	c.(544-546)Ccc>Acc	p.P182T	SIRPD_ENST00000381621.1_Missense_Mutation_p.P183T			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	182						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGCAGCAGGGTTGGACGAAA	0.607																																																0													139.0	122.0	128.0					20																	1517834		2203	4300	6503	SO:0001583	missense	128646			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.544C>A	20.37:g.1517834G>T	ENSP00000371036:p.Pro182Thr		B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	CCDS13018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.329386|1.329386	0.24167|0.24167	.|.	.|.	ENSG00000125900|ENSG00000125900	ENST00000429387|ENST00000381623;ENST00000381621	.|T;T	.|0.03386	.|3.95;3.99	2.59|2.59	2.59|2.59	0.31030|0.31030	.|.	.|2.223100	.|0.03451	.|U	.|0.210601	T|T	0.06416|0.06416	0.0165|0.0165	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.60682	.|0.878	T|T	0.49606|0.49606	-0.8922|-0.8922	5|10	.|0.39692	.|T	.|0.17	.|.	8.8499|8.8499	0.35192|0.35192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182	.|Q9H106	.|SIRPD_HUMAN	K|T	64|182;183	.|ENSP00000371036:P182T;ENSP00000371034:P183T	.|ENSP00000371034:P183T	N|P	-|-	3|1	2|0	SIRPD|SIRPD	1465834|1465834	0.002000|0.002000	0.14202|0.14202	0.162000|0.162000	0.22713|0.22713	0.138000|0.138000	0.21146|0.21146	-0.061000|-0.061000	0.11693|0.11693	1.742000|1.742000	0.51746|0.51746	0.563000|0.563000	0.77884|0.77884	AAC|CCC		0.607	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		44	160	44	160
RSPH14	27156	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	23401832	23401832	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr22:23401832C>T	ENST00000216036.4	-	7	1051	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		285										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCGCTATGGTCATGGGGGAGT	0.657																																																0													83.0	79.0	80.0					22																	23401832		2203	4300	6503	SO:0001583	missense	27156																														ENST00000216036.4:c.855G>A	22.37:g.23401832C>T	ENSP00000216036:p.Met285Ile			Missense_Mutation	SNP	ENST00000216036.4	37	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	9.259	1.042795	0.19748	.	.	ENSG00000100218	ENST00000216036	T	0.47177	0.85	5.31	0.405	0.16361	Armadillo-like helical (1);Armadillo-type fold (1);	0.711109	0.14184	N	0.335828	T	0.27241	0.0668	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.14783	-1.0460	10	0.49607	T	0.09	-1.4587	3.2922	0.06953	0.1706:0.4061:0.3306:0.0927	.	285	Q9UHP6	RTDR1_HUMAN	I	285	ENSP00000216036:M285I	ENSP00000216036:M285I	M	-	3	0	RTDR1	21731832	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.402000	0.20965	0.675000	0.31264	0.655000	0.94253	ATG		0.657	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			66	221	66	221
PTPN18	26469	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	rs11892325	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:131116491G>A	ENST00000175756.5	+	2	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	49	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		21497	0.0		0.0	False		,,,				2504	0.0															0								G	,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86.0	86.0	86.0		,145	-0.5	0.0	2	dbSNP_120	86	0,8600		0,0,4300	yes	intron,missense	PTPN18	NM_001142370.1,NM_014369.3	,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,49/461	131116491	1,13005	2203	4300	6503	SO:0001583	missense	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.145G>A	2.37:g.131116491G>A	ENSP00000175756:p.Val49Met		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	CCDS2161.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.769	0.925447	0.18056	2.27E-4	0.0	ENSG00000072135	ENST00000175756;ENST00000409022	T	0.11712	2.75	3.55	-0.508	0.11980	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.754568	0.10837	N	0.628625	T	0.06826	0.0174	L	0.31371	0.925	0.09310	N	1	B;B	0.25667	0.131;0.022	B;B	0.08055	0.003;0.001	T	0.32322	-0.9911	10	0.51188	T	0.08	.	5.2258	0.15393	0.3156:0.154:0.5304:0.0	rs11892325	49;49	E7EMB8;Q99952	.;PTN18_HUMAN	M	49	ENSP00000175756:V49M	ENSP00000175756:V49M	V	+	1	0	PTPN18	130832961	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.037000	0.13840	-0.379000	0.07906	-1.134000	0.01955	GTG		0.627	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			62	145	62	145
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu	37	2	141528521	141528521	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:141528521G>T	ENST00000389484.3	-	34	6526	c.5555C>A	c.(5554-5556)aCa>aAa	p.T1852K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1852	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTCAGATGTTGGTAAACA	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													150.0	140.0	144.0					2																	141528521		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5555C>A	2.37:g.141528521G>T	ENSP00000374135:p.Thr1852Lys		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463666	0.84425	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96856	-4.15	5.71	5.71	0.89125	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97405	0.9151	M	0.64170	1.965	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.95498	0.8575	10	0.11182	T	0.66	.	19.8351	0.96655	0.0:0.0:1.0:0.0	.	1852	Q9NZR2	LRP1B_HUMAN	K	1852;1790	ENSP00000374135:T1852K	ENSP00000374135:T1852K	T	-	2	0	LRP1B	141244991	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.215000	0.95146	2.683000	0.91414	0.591000	0.81541	ACA		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	228	13	228
NEB	4703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	152342397	152342397	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:152342397C>T	ENST00000172853.10	-	149	20034	c.19887G>A	c.(19885-19887)gtG>gtA	p.V6629V	NEB_ENST00000409198.1_Silent_p.V6629V|NEB_ENST00000603639.1_Silent_p.V8485V|NEB_ENST00000397345.3_Silent_p.V8485V|NEB_ENST00000509223.2_Silent_p.V398V|NEB_ENST00000427231.2_Silent_p.V8485V|NEB_ENST00000604864.1_Silent_p.V8485V|NEB_ENST00000397336.2_Silent_p.V460V			P20929	NEBU_HUMAN	nebulin	6629	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGAAGGACACCTCATCTG	0.458																																																0													130.0	128.0	129.0					2																	152342397		2020	4201	6221	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19887G>A	2.37:g.152342397C>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	7.294	0.611745	0.14066	.	.	ENSG00000183091	ENST00000397337;ENST00000434685	.	.	.	5.36	3.57	0.40892	.	.	.	.	.	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35919	-0.9769	4	.	.	.	.	3.9034	0.09172	0.1316:0.5908:0.1279:0.1498	.	.	.	.	Y	619;726	.	.	C	-	2	0	NEB	152050643	0.998000	0.40836	1.000000	0.80357	0.794000	0.44872	0.676000	0.25247	0.654000	0.30846	0.462000	0.41574	TGT		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		67	134	67	134
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			41	72	41	72
CATIP	375307	hgsc.bcm.edu;broad.mit.edu	37	2	219232561	219232561	+	Silent	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:219232561C>T	ENST00000289388.3	+	10	1067	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		346					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTCACCTTCGCCGCCGAGT	0.701																																																0													30.0	31.0	31.0					2																	219232561		2197	4290	6487	SO:0001819	synonymous_variant	0																														ENST00000289388.3:c.1038C>T	2.37:g.219232561C>T				Silent	SNP	ENST00000289388.3	37	CCDS2414.1																																																																																				0.701	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			6	67	6	67
CCDC158	339965	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	77244544	77244544	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:77244544A>G	ENST00000388914.3	-	23	3328	c.3176T>C	c.(3175-3177)aTa>aCa	p.I1059T		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1059										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTGTTTCTATTGGCGGAGA	0.353																																																0													232.0	205.0	213.0					4																	77244544		1813	4082	5895	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3176T>C	4.37:g.77244544A>G	ENSP00000373566:p.Ile1059Thr		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.152832	0.38021	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.30981	1.51	5.22	5.22	0.72569	.	0.655577	0.14067	N	0.343685	T	0.20455	0.0492	N	0.12182	0.205	0.80722	D	1	B	0.14438	0.01	B	0.21151	0.033	T	0.05784	-1.0864	10	0.66056	D	0.02	.	11.671	0.51401	1.0:0.0:0.0:0.0	.	1059	Q5M9N0	CD158_HUMAN	T	1059;479	ENSP00000373566:I1059T	ENSP00000316815:I479T	I	-	2	0	CCDC158	77463568	0.999000	0.42202	0.994000	0.49952	0.997000	0.91878	4.667000	0.61561	2.320000	0.78422	0.528000	0.53228	ATA		0.353	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		35	389	35	389
CCNG2	901	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	78081991	78081991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:78081991A>T	ENST00000316355.5	+	4	750	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	CCNG2_ENST00000395640.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000354403.5_Nonsense_Mutation_p.K132*|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000509972.1_Nonsense_Mutation_p.K132*	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	132					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGTCAGTGTAAATGTACTGC	0.363																																																0													101.0	102.0	101.0					4																	78081991		2202	4300	6502	SO:0001587	stop_gained	901			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.394A>T	4.37:g.78081991A>T	ENSP00000315743:p.Lys132*		B4DF25|Q6FGA7|Q6FGC6	Nonsense_Mutation	SNP	ENST00000316355.5	37	CCDS3581.1	.	.	.	.	.	.	.	.	.	.	A	37	6.311551	0.97462	.	.	ENSG00000138764	ENST00000316355;ENST00000354403;ENST00000502280;ENST00000395640;ENST00000512918;ENST00000509972	.	.	.	5.81	5.81	0.92471	.	0.086835	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1905	16.1713	0.81820	1.0:0.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000315743:K132X	K	+	1	0	CCNG2	78301015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.961000	0.56759	2.221000	0.72209	0.528000	0.53228	AAA		0.363	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		92	155	92	155
ZNF713	349075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	56006946	56006946	+	Silent	SNP	A	A	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:56006946A>C	ENST00000429591.2	+	4	578	c.540A>C	c.(538-540)tcA>tcC	p.S180S	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGAACTCAAACCTTATGC	0.368																																																0													54.0	56.0	55.0					7																	56006946		2203	4300	6503	SO:0001819	synonymous_variant	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.540A>C	7.37:g.56006946A>C				Silent	SNP	ENST00000429591.2	37	CCDS34639.1																																																																																				0.368	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		36	146	36	146
OR13C2	392376	hgsc.bcm.edu;broad.mit.edu	37	9	107367614	107367614	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:107367614C>A	ENST00000542196.1	-	1	337	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACATCTGCACTGCACAGCCA	0.522																																																0													136.0	125.0	129.0					9																	107367614		2203	4300	6503	SO:0001583	missense	392376				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.295G>T	9.37:g.107367614C>A	ENSP00000438815:p.Val99Leu		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	C	4.187	0.033254	0.08101	.	.	ENSG00000257019	ENST00000542196	T	0.01139	5.28	3.53	-0.895	0.10560	GPCR, rhodopsin-like superfamily (1);	0.265076	0.19460	U	0.113703	T	0.00580	0.0019	N	0.03881	-0.34	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46484	-0.9188	10	0.41790	T	0.15	.	4.1456	0.10214	0.0:0.3545:0.1808:0.4647	.	99	Q8NGS9	O13C2_HUMAN	L	99	ENSP00000438815:V99L	ENSP00000438815:V99L	V	-	1	0	OR13C2	106407435	0.000000	0.05858	0.001000	0.08648	0.949000	0.60115	-2.540000	0.00937	-0.109000	0.12044	0.462000	0.41574	GTG		0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		26	273	26	273
SPTAN1	6709	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	131337005	131337005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:131337005C>T	ENST00000372731.4	+	4	525	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.R139*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.R139*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	139					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGAAGATGCGAGAAAAAGG	0.468																																					NSCLC(120;833 1744 2558 35612 37579)											0													129.0	129.0	129.0					9																	131337005		2203	4300	6503	SO:0001587	stop_gained	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.415C>T	9.37:g.131337005C>T	ENSP00000361816:p.Arg139*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	ENST00000372731.4	37	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	37	6.227077	0.97394	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	6.17	5.26	0.73747	.	0.160698	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	14.2029	0.65716	0.2858:0.7141:0.0:0.0	.	.	.	.	X	139	.	ENSP00000350882:R139X	R	+	1	2	SPTAN1	130376826	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.859000	0.39418	1.584000	0.49913	0.655000	0.94253	CGA		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		53	98	53	98
CACNA1B	774	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	140850187	140850187	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:140850187C>T	ENST00000371372.1	+	8	1253	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R370C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R370C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R370C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	370					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGAACCGCCGCGCCTTCCT	0.642																																																0													21.0	26.0	25.0					9																	140850187		2002	4168	6170	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1108C>T	9.37:g.140850187C>T	ENSP00000360423:p.Arg370Cys		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054636	0.75960	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.65	3.61	0.41365	.	0.123853	0.56097	N	0.000026	D	0.94928	0.8360	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	P	0.60117	0.869	D	0.95131	0.8255	10	0.72032	D	0.01	.	14.1087	0.65109	0.3181:0.6819:0.0:0.0	.	370	B1AQK6	.	C	370	ENSP00000360423:R370C;ENSP00000277551:R370C;ENSP00000360414:R370C;ENSP00000360408:R370C;ENSP00000360406:R370C	ENSP00000277551:R370C	R	+	1	0	CACNA1B	139970008	0.995000	0.38212	0.989000	0.46669	0.971000	0.66376	2.807000	0.47955	1.228000	0.43614	0.485000	0.47835	CGC		0.642	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		10	27	10	27
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76890086	76890086	+	Splice_Site	SNP	T	T	C			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:76890086T>C	ENST00000373344.5	-	17	5022	c.4808A>G	c.(4807-4809)cAg>cGg	p.Q1603R	ATRX_ENST00000395603.3_Splice_Site_p.Q1565R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1603	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGCTCTTACCTGTAAAGTCTT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											153.0	146.0	148.0					X																	76890086		2203	4296	6499	SO:0001630	splice_region_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4809+1A>G	X.37:g.76890086T>C			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487139	0.63962	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94280	-3.39;-3.39	5.57	5.57	0.84162	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.98261	0.9424	H	0.99197	4.465	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.83275	0.979;0.996	D	0.99490	1.0950	10	0.87932	D	0	-5.0791	14.7217	0.69311	0.0:0.0:0.0:1.0	.	1565;1603	P46100-4;P46100	.;ATRX_HUMAN	R	1603;1565	ENSP00000362441:Q1603R;ENSP00000378967:Q1565R	ENSP00000362441:Q1603R	Q	-	2	0	ATRX	76776742	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.673000	0.83973	1.857000	0.53885	0.486000	0.48141	CAG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	85	29	85	29
DNAH11	8701	broad.mit.edu;ucsc.edu	37	7	21678576	21678576	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:21678576G>T	ENST00000409508.3	+	28	4868	c.4837G>T	c.(4837-4839)Gct>Tct	p.A1613S	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1618S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1618	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGTGAAAAAGCTCTCGCTGA	0.403									Kartagener syndrome																																							0													160.0	158.0	158.0					7																	21678576		1854	4087	5941	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4837G>T	7.37:g.21678576G>T	ENSP00000475939:p.Ala1613Ser		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.307505	0.81247	.	.	ENSG00000105877	ENST00000328843	T	0.60171	0.21	5.78	5.78	0.91487	Dynein heavy chain, domain-2 (1);	0.054257	0.64402	D	0.000001	T	0.38532	0.1044	.	.	.	0.80722	D	1	P	0.36086	0.536	B	0.34489	0.184	T	0.38200	-0.9672	9	0.02654	T	1	.	18.7707	0.91890	0.0:0.0:1.0:0.0	.	1618	Q96DT5	DYH11_HUMAN	S	1618	ENSP00000330671:A1618S	ENSP00000330671:A1618S	A	+	1	0	DNAH11	21645101	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.103000	0.64578	2.729000	0.93468	0.650000	0.86243	GCT		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		70	166	70	166
TRPM6	140803	broad.mit.edu;ucsc.edu	37	9	77435280	77435280	+	Silent	SNP	A	A	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:77435280A>G	ENST00000360774.1	-	9	1311	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	TRPM6_ENST00000376864.4_Silent_p.S358S|TRPM6_ENST00000449912.2_Silent_p.S353S|TRPM6_ENST00000361255.3_Silent_p.S353S|TRPM6_ENST00000451710.3_Silent_p.S358S|TRPM6_ENST00000376871.3_Silent_p.S358S|TRPM6_ENST00000376872.3_Silent_p.S358S|TRPM6_ENST00000483186.1_5'UTR	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	358					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTGTTTAAGACTAAAGTTGA	0.413																																																0													146.0	133.0	138.0					9																	77435280		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1074T>C	9.37:g.77435280A>G			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																				0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		38	113	38	113
RHAG	6005	broad.mit.edu;ucsc.edu	37	6	49604490	49604490	+	Silent	SNP	C	C	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:49604490C>A	ENST00000371175.4	-	1	62	c.36G>T	c.(34-36)ctG>ctT	p.L12L	RHAG_ENST00000229810.7_Silent_p.L12L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	12					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGGCAATTTCCAGGACTATAG	0.443																																					Ovarian(176;476 2003 7720 43408 44749)											0													119.0	111.0	114.0					6																	49604490		2203	4300	6503	SO:0001819	synonymous_variant	6005				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.36G>T	6.37:g.49604490C>A			B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	ENST00000371175.4	37	CCDS4927.1																																																																																				0.443	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			59	144	59	144
SNX17	9784	broad.mit.edu;ucsc.edu	37	2	27599364	27599364	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:27599364C>T	ENST00000233575.2	+	14	1498	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	SNX17_ENST00000537606.1_Missense_Mutation_p.R401W|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000542478.1_Missense_Mutation_p.R212W|SNX17_ENST00000543024.1_Missense_Mutation_p.R212W	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	426	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACCCGGGAGTCTAT	0.572																																																0													165.0	155.0	158.0					2																	27599364		2203	4300	6503	SO:0001583	missense	9784			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1276C>T	2.37:g.27599364C>T	ENSP00000233575:p.Arg426Trp		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736198	0.49045	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.32988	1.85;1.43;1.43;1.43	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	L	0.57536	1.79	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.003	D;D;D;B	0.75020	0.985;0.985;0.985;0.001	T	0.50250	-0.8850	10	0.59425	D	0.04	-13.9384	17.8169	0.88637	0.0:1.0:0.0:0.0	.	401;414;406;426	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	W	426;212;401;212	ENSP00000233575:R426W;ENSP00000441779:R212W;ENSP00000439208:R401W;ENSP00000442567:R212W	ENSP00000233575:R426W	R	+	1	2	SNX17	27452868	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.150000	0.31639	2.797000	0.96272	0.561000	0.74099	CGG		0.572	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		80	276	80	276
SMCO4	56935	broad.mit.edu;ucsc.edu	37	11	93212240	93212240	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:93212240G>A	ENST00000298966.2	-	3	501	c.116C>T	c.(115-117)gCc>gTc	p.A39V	SMCO4_ENST00000527149.1_Missense_Mutation_p.A39V|SMCO4_ENST00000525141.1_Missense_Mutation_p.A39V	NM_020179.2	NP_064564.1	Q9NRQ5	SMCO4_HUMAN	single-pass membrane protein with coiled-coil domains 4	39						integral component of membrane (GO:0016021)											CACGACCACGGCCAGCGTGGG	0.652																																																0													100.0	84.0	89.0					11																	93212240		2201	4298	6499	SO:0001583	missense	56935			BC031564	CCDS8292.1	11q21	2013-03-11	2013-03-11	2013-03-11	ENSG00000166002	ENSG00000166002			24810	protein-coding gene	gene with protein product		609477	"""chromosome 11 open reading frame 75"""	C11orf75		10863097	Standard	NM_020179		Approved	FN5	uc001pds.4	Q9NRQ5	OTTHUMG00000167442	ENST00000298966.2:c.116C>T	11.37:g.93212240G>A	ENSP00000298966:p.Ala39Val			Missense_Mutation	SNP	ENST00000298966.2	37	CCDS8292.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057094	0.76074	.	.	ENSG00000166002	ENST00000525141;ENST00000298966;ENST00000527149;ENST00000529714;ENST00000526869	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	.	.	.	0.58432	D	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.59590	-0.7426	8	0.72032	D	0.01	-26.4816	20.428	0.99075	0.0:0.0:1.0:0.0	.	39	Q9NRQ5	CK075_HUMAN	V	39	.	ENSP00000298966:A39V	A	-	2	0	C11orf75	92851888	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	7.276000	0.78559	2.837000	0.97791	0.655000	0.94253	GCC		0.652	SMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394630.1	NM_020179		10	95	10	95
RMI1	80010	broad.mit.edu;ucsc.edu	37	9	86616940	86616940	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:86616940C>G	ENST00000325875.3	+	3	1371	c.1039C>G	c.(1039-1041)Cga>Gga	p.R347G		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	347					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATGCCGATCGAAGTATAGA	0.343																																																0													45.0	48.0	47.0					9																	86616940		2203	4300	6503	SO:0001583	missense	80010			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1039C>G	9.37:g.86616940C>G	ENSP00000317039:p.Arg347Gly		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.352140	0.01256	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.43688	0.94;1.54	5.52	-6.58	0.01836	.	0.765894	0.11454	N	0.562484	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.18398	-1.0338	10	0.23302	T	0.38	6.6665	5.6185	0.17444	0.6864:0.0929:0.132:0.0887	.	347	Q9H9A7	RMI1_HUMAN	G	347	ENSP00000402433:R347G;ENSP00000317039:R347G	ENSP00000317039:R347G	R	+	1	2	RMI1	85806760	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.923000	0.04000	-1.111000	0.02988	-0.262000	0.10625	CGA		0.343	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		16	103	16	103
