#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRMT2B	79979	broad.mit.edu	37	X	100275475	100275475	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:100275475C>A	ENST00000372936.3	-	11	1941		c.e11+1		TRMT2B_ENST00000372939.1_Splice_Site|TRMT2B_ENST00000338687.7_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site|TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)							mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGCTGTGTACCATTGAAGGC	0.488																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e10+1		tRNA methyltransferase 2 homolog B (S. cerevisiae)							148.0	124.0	132.0					X																	100275475		2203	4300	6503	SO:0001630	splice_region_variant	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100275475C>A	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1168+1G>T	X.37:g.100275475C>A						TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372936.3_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000372939.1_Splice_Site				Q96GJ1	TRM2_HUMAN			10	1839	-								A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Splice_Site	SNP	ENST00000372936.3	37		CCDS14477.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630294	0.14257	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	.	.	.	4.55	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6413	0.45594	0.3476:0.6524:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRMT2B	100162131	1.000000	0.71417	0.973000	0.42090	0.130000	0.20726	1.767000	0.38501	0.294000	0.22547	-0.224000	0.12420	.		0.488	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917	Intron	58	90	1	0	4.17463e-26	1	4.61406e-26	58	90				
ATP13A4	84239	broad.mit.edu	37	3	193207598	193207598	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:193207598T>G	ENST00000342695.4	-	7	981	c.659A>C	c.(658-660)gAa>gCa	p.E220A	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E220A|ATP13A4_ENST00000295548.3_Missense_Mutation_p.E220A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	220						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTATAGTCTTCACTAAACCA	0.338																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(658-660)gAa>gCa		ATPase type 13A4							108.0	111.0	110.0					3																	193207598		2203	4299	6502	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193207598T>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.659A>C	3.37:g.193207598T>G	ENSP00000339182:p.Glu220Ala					ATP13A4_ENST00000295548.3_Missense_Mutation_p.E220A|ATP13A4_ENST00000392443.3_Missense_Mutation_p.E220A	p.E220A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	7	981	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		220					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.659A>C	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866144	0.51588	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.88354	-2.37;-2.37;-2.37	5.51	5.51	0.81932	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000003	D	0.88789	0.6532	M	0.66939	2.045	0.50632	D	0.99988	B;B	0.20459	0.045;0.026	B;B	0.28465	0.09;0.041	D	0.86497	0.1801	10	0.62326	D	0.03	-32.144	14.7613	0.69607	0.0:0.0:0.0:1.0	.	220;220	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	A	220	ENSP00000376238:E220A;ENSP00000339182:E220A;ENSP00000295548:E220A	ENSP00000295548:E220A	E	-	2	0	ATP13A4	194690292	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.352000	0.73027	2.232000	0.73038	0.467000	0.42956	GAA		0.338	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		4	131	0	0	0	1	0	4	131				
GFRAL	389400	broad.mit.edu	37	6	55223800	55223800	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:55223800T>A	ENST00000340465.2	+	6	902	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	272					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCAGGAAGTGATGACTGCA	0.433																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(814-816)agT>agA		GDNF family receptor alpha like							212.0	182.0	192.0					6																	55223800		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55223800T>A	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.816T>A	6.37:g.55223800T>A	ENSP00000343636:p.Ser272Arg						p.S272R	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	902	+	Lung NSC(77;0.0875)|Renal(3;0.122)		272					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.816T>A	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.453549	0.26161	.	.	ENSG00000187871	ENST00000340465	T	0.32988	1.43	5.67	3.29	0.37713	GDNF/GAS1 (2);	0.390668	0.28595	N	0.014790	T	0.14227	0.0344	L	0.50333	1.59	0.20975	N	0.999817	P	0.35155	0.487	B	0.40228	0.323	T	0.11227	-1.0596	10	0.36615	T	0.2	-8.9122	9.3559	0.38166	0.0:0.2655:0.0:0.7345	.	272	Q6UXV0	GFRAL_HUMAN	R	272	ENSP00000343636:S272R	ENSP00000343636:S272R	S	+	3	2	GFRAL	55331759	0.995000	0.38212	0.103000	0.21229	0.441000	0.31987	0.564000	0.23563	0.431000	0.26258	0.455000	0.32223	AGT		0.433	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		8	90	0	0	0	1	0	8	90				
CYP2A7	1549	broad.mit.edu	37	19	41382446	41382446	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:41382446A>G	ENST00000301146.4	-	8	1830	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	CYP2A7_ENST00000291764.3_Missense_Mutation_p.V379A|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	430						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGAAAAGGGCACAAAAGCATC	0.567																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1288-1290)gTg>gCg		cytochrome P450, family 2, subfamily A, polypeptide 7							181.0	158.0	165.0					19																	41382446		2203	4299	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41382446A>G	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1289T>C	19.37:g.41382446A>G	ENSP00000301146:p.Val430Ala					CYP2A7_ENST00000291764.3_Missense_Mutation_p.V379A|CTC-490E21.12_ENST00000601627.1_Intron	p.V430A	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		8	1830	-			430					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.1289T>C	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108491	0.37242	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.69435	-0.4;-0.4	2.18	2.18	0.27775	.	0.340068	0.25994	U	0.026998	T	0.72953	0.3525	L	0.52206	1.635	0.25295	N	0.989324	D;D;D	0.63880	0.993;0.982;0.968	D;P;P	0.69824	0.966;0.782;0.814	T	0.62167	-0.6911	10	0.87932	D	0	.	9.0853	0.36577	1.0:0.0:0.0:0.0	.	430;379;430	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	A	430;379	ENSP00000301146:V430A;ENSP00000291764:V379A	ENSP00000291764:V379A	V	-	2	0	CYP2A7	46074286	0.968000	0.33430	0.124000	0.21820	0.380000	0.30137	8.081000	0.89511	1.001000	0.39076	0.155000	0.16302	GTG		0.567	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		9	73	0	0	0	1	0	9	73				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	74	0	0	0	1	0	5	74				
TMLHE	55217	broad.mit.edu	37	X	154736769	154736769	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:154736769T>C	ENST00000334398.3	-	6	930	c.785A>G	c.(784-786)cAt>cGt	p.H262R	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	262					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTCCTTCATGTTTAAGACA	0.363																																						ENST00000334398.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(784-786)cAt>cGt		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						111.0	108.0	109.0					X																	154736769		2203	4298	6501	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154736769T>C	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.785A>G	X.37:g.154736769T>C	ENSP00000335261:p.His262Arg					TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN			6	930	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		262					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.785A>G	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615264	0.66672	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82255	-1.59;-1.59	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.76838	2.35	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.69824	0.961;0.966;0.966	D	0.89609	0.3840	10	0.52906	T	0.07	-13.1246	11.0237	0.47732	0.0:0.0:0.0:1.0	.	262;262;262	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	R	262	ENSP00000335261:H262R;ENSP00000358447:H262R	ENSP00000335261:H262R	H	-	2	0	TMLHE	154389963	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.873000	0.75541	1.568000	0.49683	0.402000	0.26972	CAT		0.363	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		76	184	0	0	0	1	0	76	184				
EGF	1950	broad.mit.edu	37	4	110932374	110932374	+	Silent	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:110932374T>C	ENST00000265171.5	+	24	3832	c.3387T>C	c.(3385-3387)acT>acC	p.T1129T	EGF_ENST00000509793.1_Silent_p.T1087T|EGF_ENST00000503392.1_Silent_p.T1088T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1129					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGCAACCAACTTCATGGAGGC	0.453																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3385-3387)acT>acC		epidermal growth factor	Sulindac(DB00605)						58.0	62.0	60.0					4																	110932374		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110932374T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3387T>C	4.37:g.110932374T>C						EGF_ENST00000509793.1_Silent_p.T1087T|EGF_ENST00000503392.1_Silent_p.T1088T	p.T1129T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	24	3832	+		Hepatocellular(203;0.0893)	1129					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.3387T>C	CCDS3689.1																																																																																				0.453	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			30	23	0	0	0	1	0	30	23				
LCT	3938	broad.mit.edu	37	2	136566894	136566894	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:136566894A>G	ENST00000264162.2	-	8	3033	c.3023T>C	c.(3022-3024)gTg>gCg	p.V1008A	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1008	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GTTGCTTGCCACCAAGCCATT	0.507																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3022-3024)gTg>gCg		lactase							62.0	66.0	64.0					2																	136566894		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566894A>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3023T>C	2.37:g.136566894A>G	ENSP00000264162:p.Val1008Ala						p.V1008A	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3033	-			1008			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3023T>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105711	0.37145	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51574	0.7	5.78	4.56	0.56223	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.151840	0.06059	N	0.658098	T	0.45994	0.1370	L	0.43598	1.365	0.22835	N	0.998679	B	0.15719	0.014	B	0.21360	0.034	T	0.33394	-0.9870	10	0.54805	T	0.06	-1.7706	11.8479	0.52395	0.8691:0.0:0.0:0.1309	.	1008	P09848	LPH_HUMAN	A	1008;440	ENSP00000264162:V1008A	ENSP00000264162:V1008A	V	-	2	0	LCT	136283364	0.675000	0.27558	0.995000	0.50966	0.672000	0.39443	4.302000	0.59092	2.200000	0.70718	0.460000	0.39030	GTG		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		21	35	0	0	0	1	0	21	35				
CCT6P3	643180	broad.mit.edu	37	7	64498755	64498755	+	RNA	SNP	G	G	C	rs182969532	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:64498755G>C	ENST00000426828.1	+	0	18					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gcaggatggcgacggcCGTCC	0.746													.|||	593	0.118411	0.0144	0.1571	5008	,	,		4197	0.0069		0.3121	False		,,,				2504	0.1472					ENST00000426828.1																			0																																																			0							g.chr7:64498755G>C			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498755G>C								NR_033416.1						0	18	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.746	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			6	5	0	0	0	1	0	6	5				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070558	32070558	+	RNA	SNP	G	G	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:32070558G>T	ENST00000566806.1	-	0	499																											GGTGCAGCTGGTGCAGTCTGG	0.587																																						ENST00000566806.1																			0																																																			0							g.chr16:32070558G>T																													16.37:g.32070558G>T														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.587	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	68	1	0	0.00448238	1	0.00455468	4	68				
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013807	33013807	+	RNA	SNP	G	G	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:33013807G>T	ENST00000567619.1	-	0	499																											GGTGCAGCTGGTGCAGTCTGG	0.592																																						ENST00000567619.1																			0																																																			0							g.chr16:33013807G>T																													16.37:g.33013807G>T														0	499	-									RNA	SNP	ENST00000567619.1	37																																																																																						0.592	RP11-19N8.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432089.1			13	65	1	0	0.00074312	1	0.000780276	13	65				
EPHA3	2042	broad.mit.edu	37	3	89390072	89390072	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:89390072G>A	ENST00000336596.2	+	4	1046	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.R274Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.R274Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	274	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTAGCTTGTCGACCAGGTTTC	0.353										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(820-822)cGa>cAa		EPH receptor A3							139.0	136.0	137.0					3																	89390072		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390072G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.821G>A	3.37:g.89390072G>A	ENSP00000337451:p.Arg274Gln	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.R274Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.R274Q	p.R274Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1046	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	274			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.821G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471078	0.26423	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.15017	2.46;2.46;2.46	6.17	2.13	0.27403	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.316804	0.33419	N	0.004922	T	0.14141	0.0342	L	0.60067	1.865	0.40487	D	0.980503	B;B	0.30584	0.03;0.286	B;B	0.21546	0.009;0.035	T	0.08994	-1.0695	9	.	.	.	.	8.1439	0.31100	0.1979:0.1126:0.6895:0.0	.	274;274	P29320;P29320-2	EPHA3_HUMAN;.	Q	274	ENSP00000337451:R274Q;ENSP00000399926:R274Q;ENSP00000419190:R274Q	.	R	+	2	0	EPHA3	89472762	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	2.444000	0.44890	0.106000	0.17784	0.655000	0.94253	CGA		0.353	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		4	111	0	0	0	1	0	4	111				
OPN1MW2	728458	broad.mit.edu	37	X	153496073	153496073	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:153496073G>A	ENST00000369929.4	+	5	861	c.801G>A	c.(799-801)acG>acA	p.T267T	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	267					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAAGTGACGCGCATGGTGG	0.582																																						ENST00000369929.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6						c.(799-801)acG>acA		opsin 1 (cone pigments), medium-wave-sensitive 2							158.0	109.0	126.0					X																	153496073		2100	3786	5886	SO:0001819	synonymous_variant	728458							g.chrX:153496073G>A		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.801G>A	X.37:g.153496073G>A						OPN1MW2_ENST00000488220.1_3'UTR	p.T267T	NM_001048181.2	NP_001041646.1					5	861	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)								Silent	SNP	ENST00000369929.4	37	c.801G>A	CCDS35447.1																																																																																				0.582	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		12	502	0	0	0	1	0	12	502				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	41	0	0	0	1	0	4	41				
EPHA5	2044	broad.mit.edu	37	4	66197690	66197690	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:66197690C>T	ENST00000273854.3	-	17	3609		c.e17+1		EPHA5_ENST00000511294.1_Silent_p.E1004E|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATTACTCACTCCAAGGTCA	0.408										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.e17+1		EPH receptor A5							80.0	80.0	80.0					4																	66197690		2203	4299	6502	SO:0001630	splice_region_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66197690C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.3008+1G>A	4.37:g.66197690C>T		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.E1004E|EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site		NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			17	3609	-								Q7Z3F2	Splice_Site	SNP	ENST00000273854.3	37		CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319044	0.81469	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA5	65880285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.744000	0.94065	0.561000	0.74099	.		0.408	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	Intron	24	53	0	0	0	1	0	24	53				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	147	0	0	0	1	0	6	147				
LOC101927905	101927905	broad.mit.edu	37	12	8391292	8391292	+	lincRNA	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:8391292G>A	ENST00000304751.9	+	0	585				FAM86FP_ENST00000427893.2_RNA																							AGAAAGCACCGGGCATACTTG	0.562																																						ENST00000304751.9																			0																																																			0							g.chr12:8391292G>A																													12.37:g.8391292G>A						FAM86FP_ENST00000427893.2_RNA								0	585	+									RNA	SNP	ENST00000304751.9	37																																																																																						0.562	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			4	55	0	0	0	1	0	4	55				
RTTN	25914	broad.mit.edu	37	18	67721477	67721477	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr18:67721477A>G	ENST00000255674.6	-	38	5361	c.5075T>C	c.(5074-5076)cTg>cCg	p.L1692P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1692					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATGACTGCAGAAGCCTGGA	0.418																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5074-5076)cTg>cCg		rotatin							64.0	60.0	61.0					18																	67721477		1872	4101	5973	SO:0001583	missense	25914						binding	g.chr18:67721477A>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5075T>C	18.37:g.67721477A>G	ENSP00000255674:p.Leu1692Pro					RTTN_ENST00000454359.1_3'UTR	p.L1692P	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			38	5361	-		Esophageal squamous(42;0.129)	1692					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.5075T>C	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609222	0.66558	.	.	ENSG00000176225	ENST00000255674	T	0.61627	0.09	5.32	5.32	0.75619	.	0.388092	0.24664	N	0.036602	T	0.74107	0.3673	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77096	-0.2714	10	0.87932	D	0	.	13.0891	0.59158	1.0:0.0:0.0:0.0	.	1692	Q86VV8	RTTN_HUMAN	P	1692	ENSP00000255674:L1692P	ENSP00000255674:L1692P	L	-	2	0	RTTN	65872457	0.986000	0.35501	0.993000	0.49108	0.797000	0.45037	5.447000	0.66606	2.132000	0.65825	0.482000	0.46254	CTG		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		15	24	0	0	0	1	0	15	24				
SUCO	51430	broad.mit.edu	37	1	172579033	172579033	+	Silent	SNP	C	C	T	rs369046494		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:172579033C>T	ENST00000263688.3	+	24	3618	c.3399C>T	c.(3397-3399)ggC>ggT	p.G1133G	SUCO_ENST00000367723.4_Silent_p.G1284G|SUCO_ENST00000610051.1_Silent_p.G762G|SUCO_ENST00000608151.1_Silent_p.G1285G	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1133					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TAGCCAATGGCGACATAAAAG	0.388																																						ENST00000367723.3																			0											c.(3853-3855)ggC>ggT		SUN domain containing ossification factor		A	,	0,4406		0,0,2203	86.0	88.0	87.0		3399,3267	4.4	1.0	1		87	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	C1orf9	NM_014283.3,NM_016227.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1133/1255,1089/1211	172579033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51430							g.chr1:172579033C>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3399C>T	1.37:g.172579033C>T						SUCO_ENST00000263688.3_Silent_p.G1133G	p.G1285G	NM_016227.2	NP_057311.2					23	3979	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.3855C>T	CCDS1303.1																																																																																				0.388	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		4	79	0	0	0	1	0	4	79				
SIGLEC14	100049587	broad.mit.edu	37	19	52147181	52147181	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:52147181C>T	ENST00000360844.6	-	5	904	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	288	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R281L(1)|p.R288L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTTCCCTCCCGGAACCAGCT	0.597																																						ENST00000360844.6																			2	Substitution - Missense(2)	p.R281L(1)|p.R288L(1)	kidney(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(862-864)cGg>cAg		sialic acid binding Ig-like lectin 14							38.0	43.0	41.0					19																	52147181		1848	4055	5903	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147181C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.863G>A	19.37:g.52147181C>T	ENSP00000354090:p.Arg288Gln					SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron	p.R288Q	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	904	-		all_neural(266;0.0299)	288			Ig-like C2-type 2.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.863G>A	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	C	4.961	0.178521	0.09443	.	.	ENSG00000254415	ENST00000360844	T	0.12879	2.64	3.09	-6.17	0.02091	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.164860	0.02702	N	0.111867	T	0.09024	0.0223	L	0.48935	1.535	0.09310	N	1	B	0.25904	0.137	B	0.21360	0.034	T	0.24404	-1.0161	10	0.19590	T	0.45	.	0.4252	0.00462	0.3758:0.1709:0.132:0.3213	.	288	Q08ET2	SIG14_HUMAN	Q	288	ENSP00000354090:R288Q	ENSP00000354090:R288Q	R	-	2	0	SIGLEC14	56838993	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.913000	0.01580	-1.498000	0.01824	-0.251000	0.11542	CGG		0.597	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		28	4	0	0	0	1	0	28	4				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		6	568	0	0	0	1	0	6	568				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		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					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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).|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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	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			27	57	0	0	0	1	0	27	57				
MXRA5	25878	broad.mit.edu	37	X	3241758	3241758	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:3241758C>T	ENST00000217939.6	-	5	2122	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	656	Ig-like C2-type 2.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCCCCTTGCTGGTTGACAG	0.493																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1966-1968)caG>caA		matrix-remodelling associated 5							97.0	84.0	89.0					X																	3241758		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3241758C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1968G>A	X.37:g.3241758C>T							p.Q656Q	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2122	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	656			Ig-like C2-type 2.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.1968G>A	CCDS14124.1																																																																																				0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		45	149	0	0	0	1	0	45	149				
DSCAML1	57453	broad.mit.edu	37	11	117335712	117335712	+	Missense_Mutation	SNP	G	G	A	rs563772293		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:117335712G>A	ENST00000321322.6	-	17	3392	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCCAGCCCGATTGAAGGCT	0.617																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3391-3393)Cgg>Tgg		Down syndrome cell adhesion molecule like 1							105.0	86.0	92.0					11																	117335712		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117335712G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3391C>T	11.37:g.117335712G>A	ENSP00000315465:p.Arg1131Trp					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	p.R1131W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	17	3392	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1071			Fibronectin type-III 3.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3391C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679154	0.68042	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.58060	0.36;0.36	4.78	0.575	0.17374	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69788	0.3150	M	0.74389	2.26	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.72600	-0.4244	9	0.87932	D	0	.	14.4459	0.67349	0.0:0.0:0.4953:0.5047	.	1071	Q8TD84	DSCL1_HUMAN	W	861;1131;838	ENSP00000434335:R861W;ENSP00000315465:R1131W	ENSP00000315465:R1131W	R	-	1	2	DSCAML1	116840922	1.000000	0.71417	0.889000	0.34880	0.993000	0.82548	2.448000	0.44926	-0.047000	0.13423	-0.314000	0.08810	CGG		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		14	61	0	0	0	1	0	14	61				
MYO3A	53904	broad.mit.edu	37	10	26315440	26315440	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr10:26315440T>C	ENST00000265944.5	+	10	1098	c.932T>C	c.(931-933)aTg>aCg	p.M311T	MYO3A_ENST00000543632.1_Missense_Mutation_p.M311T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	311					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						CATCAATGCATGGGAGGCACA	0.333																																						ENST00000265944.5																			0				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						c.(931-933)aTg>aCg		myosin IIIA							74.0	69.0	71.0					10																	26315440		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26315440T>C	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.932T>C	10.37:g.26315440T>C	ENSP00000265944:p.Met311Thr					MYO3A_ENST00000543632.1_Missense_Mutation_p.M311T	p.M311T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			10	1098	+			311					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.932T>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	2.899	-0.228027	0.06022	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.76316	-1.01;-0.77	5.76	-0.574	0.11738	Protein kinase-like domain (1);	0.561399	0.22461	N	0.059747	T	0.48926	0.1527	N	0.03281	-0.365	0.42336	D	0.992314	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.16837	-1.0389	10	0.14656	T	0.56	.	9.4731	0.38856	0.0:0.369:0.0:0.6309	.	311;311;311	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	T	311	ENSP00000265944:M311T;ENSP00000445909:M311T	ENSP00000265944:M311T	M	+	2	0	MYO3A	26355446	1.000000	0.71417	0.113000	0.21522	0.991000	0.79684	1.098000	0.31000	-0.044000	0.13491	-0.290000	0.09829	ATG		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		9	66	0	0	0	1	0	9	66				
EPHB4	2050	broad.mit.edu	37	7	100403136	100403136	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:100403136G>C	ENST00000358173.3	-	15	3133	c.2665C>G	c.(2665-2667)Cgg>Ggg	p.R889G	EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	889	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R889W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATTCTCCCGGGCCACGATT	0.637																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			1	Substitution - Missense(1)	p.R889W(1)	stomach(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2665-2667)Cgg>Ggg		EPH receptor B4							54.0	62.0	60.0					7																	100403136		2203	4299	6502	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100403136G>C	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2665C>G	7.37:g.100403136G>C	ENSP00000350896:p.Arg889Gly					EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			15	3133	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		889		R -> W (in a gastric adenocarcinoma sample; somatic mutation).	Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2665C>G	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256255	0.22965	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.76839	-1.05;-0.8	5.28	-2.03	0.07365	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000096	T	0.49012	0.1532	N	0.04297	-0.235	0.39613	D	0.969913	P;P	0.45531	0.86;0.778	B;B	0.35240	0.198;0.082	T	0.51332	-0.8719	10	0.14656	T	0.56	.	16.2608	0.82541	0.0:0.0:0.6744:0.3256	.	889;889	Q96L35;P54760	.;EPHB4_HUMAN	G	889	ENSP00000353833:R889G;ENSP00000350896:R889G	ENSP00000350896:R889G	R	-	1	2	EPHB4	100241072	0.993000	0.37304	0.989000	0.46669	0.954000	0.61252	0.163000	0.16520	-0.260000	0.09418	-0.397000	0.06425	CGG		0.637	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		28	63	0	0	0	1	0	28	63				
FOXS1	2307	broad.mit.edu	37	20	30432396	30432396	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30432396G>T	ENST00000375978.3	-	1	1024	c.950C>A	c.(949-951)aCc>aAc	p.T317N		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	317					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TAGGCAGGGGGTCAGCCCCAA	0.647																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(949-951)aCc>aAc		forkhead box S1							44.0	46.0	45.0					20																	30432396		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432396G>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.950C>A	20.37:g.30432396G>T	ENSP00000365145:p.Thr317Asn						p.T317N	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	1024	-			317					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.950C>A	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173150	0.38413	.	.	ENSG00000179772	ENST00000375978	D	0.92752	-3.1	4.54	4.54	0.55810	.	0.301816	0.23396	N	0.048629	D	0.86711	0.5998	N	0.24115	0.695	0.24632	N	0.993619	B	0.11235	0.004	B	0.06405	0.002	T	0.79019	-0.1974	10	0.56958	D	0.05	.	15.9992	0.80275	0.0:0.0:1.0:0.0	.	317	O43638	FOXS1_HUMAN	N	317	ENSP00000365145:T317N	ENSP00000365145:T317N	T	-	2	0	FOXS1	29896057	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.718000	0.61930	2.350000	0.79820	0.462000	0.41574	ACC		0.647	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		13	32	1	0	1.5842e-08	1	1.72077e-08	13	32				
CSF2RB	1439	broad.mit.edu	37	22	37333970	37333970	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:37333970T>C	ENST00000403662.3	+	14	2342	c.2120T>C	c.(2119-2121)gTg>gCg	p.V707A	CSF2RB_ENST00000536485.1_Missense_Mutation_p.V654A|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V713A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V713A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	707					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCTGGAGTGGCCTCTGGT	0.612																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(2137-2139)gTg>gCg		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						67.0	75.0	73.0					22																	37333970		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333970T>C	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2120T>C	22.37:g.37333970T>C	ENSP00000384053:p.Val707Ala					CSF2RB_ENST00000406230.1_Missense_Mutation_p.V713A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.V707A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V654A	p.V713A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	2355	+			707					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.2138T>C	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	2.719	-0.267037	0.05754	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91631	-2.37;-2.88;-2.88;-2.88	5.22	-0.938	0.10412	.	1.507890	0.04499	N	0.380870	D	0.82296	0.5006	N	0.21448	0.665	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.10450	0.003;0.005	T	0.68671	-0.5347	10	0.08179	T	0.78	-3.7683	2.9653	0.05906	0.296:0.2573:0.0:0.4467	.	713;707	P32927-2;P32927	.;IL3RB_HUMAN	A	707;707;713;713;654	ENSP00000384053:V707A;ENSP00000262825:V713A;ENSP00000385271:V713A;ENSP00000440003:V654A	ENSP00000262825:V713A	V	+	2	0	CSF2RB	35663916	0.000000	0.05858	0.171000	0.22900	0.005000	0.04900	-1.134000	0.03228	0.009000	0.14813	-2.272000	0.00274	GTG		0.612	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		11	40	0	0	0	1	0	11	40				
TRRAP	8295	broad.mit.edu	37	7	98507916	98507916	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:98507916C>G	ENST00000359863.4	+	15	1797	c.1588C>G	c.(1588-1590)Caa>Gaa	p.Q530E	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	530					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCGAGAAGCAAGGAGAAAA	0.617																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(1588-1590)Caa>Gaa		transformation/transcription domain-associated protein							62.0	64.0	63.0					7																	98507916		2202	4300	6502	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98507916C>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1588C>G	7.37:g.98507916C>G	ENSP00000352925:p.Gln530Glu					TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E	p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1797	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		530					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1588C>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.905|4.905	0.168189|0.168189	0.09339|0.09339	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.42513|.	0.97;0.97|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Armadillo-type fold (1);|.	0.307386|.	0.33610|.	N|.	0.004738|.	T|T	0.25269|0.25269	0.0614|0.0614	N|N	0.00413|0.00413	-1.525|-1.525	0.40749|0.40749	D|D	0.982908|0.982908	B;B;B|.	0.10296|.	0.003;0.002;0.002|.	B;B;B|.	0.08055|.	0.003;0.001;0.002|.	T|T	0.42464|0.42464	-0.9450|-0.9450	10|5	0.02654|.	T|.	1|.	.|.	20.3018|20.3018	0.98617|0.98617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	530;244;530|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	E|R	530|244	ENSP00000352925:Q530E;ENSP00000347733:Q530E|.	ENSP00000347733:Q530E|.	Q|S	+|+	1|3	0|2	TRRAP|TRRAP	98345852|98345852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.989000|2.989000	0.49393|0.49393	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	CAA|AGC		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		32	40	0	0	0	1	0	32	40				
HERC2	8924	broad.mit.edu	37	15	28437207	28437207	+	Missense_Mutation	SNP	C	C	T	rs371697885		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr15:28437207C>T	ENST00000261609.7	-	53	8459	c.8351G>A	c.(8350-8352)cGc>cAc	p.R2784H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCACCATGCGGGACCAGCT	0.587											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(8350-8352)cGc>cAc		HECT and RLD domain containing E3 ubiquitin protein ligase 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	153.0	142.0	146.0		8351	5.5	1.0	15		146	0,8600		0,0,4300	no	missense	HERC2	NM_004667.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2784/4835	28437207	1,13005	2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28437207C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8351G>A	15.37:g.28437207C>T	ENSP00000261609:p.Arg2784His		OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.R2784H	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	53	8459	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2784			DOC.			Missense_Mutation	SNP	ENST00000261609.7	37	c.8351G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626472	0.96671	2.27E-4	0.0	ENSG00000128731	ENST00000261609	T	0.64438	-0.1	5.51	5.51	0.81932	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.056846	0.64402	D	0.000003	T	0.77791	0.4183	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.85130	0.862;0.997	T	0.77498	-0.2565	10	0.56958	D	0.05	.	19.7682	0.96350	0.0:1.0:0.0:0.0	.	251;2784	A8KAQ8;O95714	.;HERC2_HUMAN	H	2784	ENSP00000261609:R2784H	ENSP00000261609:R2784H	R	-	2	0	HERC2	26110802	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.013000	0.70776	2.744000	0.94065	0.573000	0.79308	CGC		0.587	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	191	0	0	0	1	0	4	191				
ABCB9	23457	broad.mit.edu	37	12	123424704	123424704	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:123424704T>C	ENST00000542678.1	-	9	4535	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G|ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	566	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGGCTTGCCGTCCAGCAGCAC	0.632																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(1696-1698)gAc>gGc		ATP-binding cassette, sub-family B (MDR/TAP), member 9							30.0	29.0	29.0					12																	123424704		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123424704T>C	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1697A>G	12.37:g.123424704T>C	ENSP00000440288:p.Asp566Gly					ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G	p.D566G			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	9	4535	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		566			ABC transporter.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1697A>G	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842851	0.91197	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000546289;ENST00000542448	D;D;D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	L	0.31578	0.945	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.997;0.999	D;D;D;D;D;D	0.87578	0.986;0.998;0.991;0.983;0.971;0.997	D	0.92233	0.5794	10	0.49607	T	0.09	-37.7606	14.4955	0.67683	0.0:0.0:0.0:1.0	.	503;173;566;285;523;566	B4E2J0;B4DFR8;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;.;ABCB9_HUMAN	G	566;503;523;566;566;566;110;192	ENSP00000280560:D566G;ENSP00000441734:D503G;ENSP00000280559:D523G;ENSP00000376234:D566G;ENSP00000440288:D566G;ENSP00000394898:D566G;ENSP00000442281:D110G;ENSP00000440244:D192G	ENSP00000280560:D566G	D	-	2	0	ABCB9	121990657	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.868000	0.87116	2.022000	0.59522	0.383000	0.25322	GAC		0.632	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		6	6	0	0	0	1	0	6	6				
KIAA0319	9856	broad.mit.edu	37	6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T	rs377674724		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:24596226C>T	ENST00000378214.3	-	3	1200	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A217T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562																																						ENST00000535378.1																			1	Substitution - Missense(1)	p.A226T(1)	kidney(1)	breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(649-651)Gcc>Acc		KIAA0319							55.0	51.0	53.0					6																	24596226		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596226C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.676G>A	6.37:g.24596226C>T	ENSP00000367459:p.Ala226Thr					KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A226T	p.A217T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1291	-			226					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.649G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	6.866	0.529049	0.13127	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3	4.09	-0.0303	0.13915	.	1.262540	0.05663	N	0.587336	T	0.01092	0.0036	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.022	B;B;B	0.18561	0.022;0.015;0.01	T	0.48736	-0.9009	10	0.30078	T	0.28	-1.0065	2.1653	0.03835	0.1341:0.4937:0.1308:0.2414	.	226;217;226	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	226;217;181;226;226	ENSP00000439700:A226T;ENSP00000442403:A217T;ENSP00000401086:A181T;ENSP00000367459:A226T;ENSP00000437656:A226T	ENSP00000367459:A226T	A	-	1	0	KIAA0319	24704205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.246000	0.09611	-1.077000	0.02231	GCC		0.562	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		40	7	0	0	0	1	0	40	7				
TIMP1	7076	broad.mit.edu	37	X	47442890	47442890	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:47442890T>A	ENST00000218388.4	+	2	246	c.76T>A	c.(76-78)Tgt>Agt	p.C26S	SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000377018.2_De_novo_Start_InFrame|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S|SYN1_ENST00000340666.4_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	26	Involved in metalloproteinase-binding.|NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						GGCCTGCACCTGTGTCCCACC	0.622																																						ENST00000377018.2																			0				endometrium(1)|large_intestine(2)	3								TIMP metallopeptidase inhibitor 1							112.0	93.0	100.0					X																	47442890		2203	4300	6503	SO:0001583	missense	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47442890T>A		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.76T>A	X.37:g.47442890T>A	ENSP00000218388:p.Cys26Ser					SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.C26S|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron				P01033	TIMP1_HUMAN			0	222	+								Q14252|Q9UCU1	Translation_Start_Site	SNP	ENST00000218388.4	37		CCDS14281.1	.	.	.	.	.	.	.	.	.	.	-	16.69	3.192397	0.58017	.	.	ENSG00000102265	ENST00000218388;ENST00000456754;ENST00000441738	D;D;D	0.99914	-7.98;-7.98;-7.98	3.29	3.29	0.37713	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.48767	D	0.000162	D	0.99910	0.9957	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96306	0.9225	10	0.59425	D	0.04	.	9.2196	0.37368	0.0:0.0:0.0:1.0	.	26	P01033	TIMP1_HUMAN	S	26;26;38	ENSP00000218388:C26S;ENSP00000406671:C26S;ENSP00000405380:C38S	ENSP00000218388:C26S	C	+	1	0	TIMP1	47327834	1.000000	0.71417	0.966000	0.40874	0.315000	0.28087	5.222000	0.65277	1.529000	0.49120	0.433000	0.28618	TGT		0.622	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		28	32	0	0	0	1	0	28	32				
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17657	0.0		0.0	False		,,,				2504	0.0					ENST00000315599.7																			1	Substitution - Missense(1)	p.A283T(1)	large_intestine(1)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(847-849)Gcc>Acc		CD209 molecule		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	9.9+/-24.2	0,4,2199	85.0	81.0	82.0		439,715,571,775,847,364,847	-0.1	0.0	19	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,8,6495	TT,TC,CC		0.0465,0.0908,0.0615	benign,benign,benign,benign,benign,benign,benign	147/269,239/361,191/313,259/381,283/399,122/244,283/405	7809880	8,12998	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809880C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.847G>A	19.37:g.7809880C>T	ENSP00000315477:p.Ala283Thr					CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T	p.A283T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			5	869	-			283			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.847G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007084	0.35415	9.08E-4	4.65E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	3.29	-0.0555	0.13809	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.27169	0.0666	L	0.45581	1.43	0.09310	N	1	D;D;P;D;P;P;D;D;D;P;D	0.89917	1.0;1.0;0.955;0.998;0.909;0.918;0.98;1.0;0.999;0.956;1.0	D;D;P;D;B;P;B;D;D;B;D	0.97110	0.955;0.967;0.799;0.964;0.234;0.522;0.421;1.0;0.951;0.345;0.996	T	0.13176	-1.0519	9	0.87932	D	0	.	2.7211	0.05201	0.2253:0.5221:0.0:0.2526	.	283;283;259;239;147;259;191;283;213;259;283	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	283;283;259;239;191;147;267	ENSP00000315477:A283T;ENSP00000346373:A283T;ENSP00000315407:A259T;ENSP00000204801:A239T;ENSP00000301357:A147T	ENSP00000204801:A239T	A	-	1	0	CD209	7715880	0.006000	0.16342	0.007000	0.13788	0.027000	0.11550	-0.132000	0.10467	0.085000	0.17107	0.455000	0.32223	GCC		0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	59	0	0	0	1	0	5	59				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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)				TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	12	0	0	0	1	0	33	12				
SCD5	79966	broad.mit.edu	37	4	83557824	83557824	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:83557824G>A	ENST00000319540.4	-	4	1041	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	241					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CATGTGGGCGGCGCTGTTGAC	0.562																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(721-723)gCc>gTc		stearoyl-CoA desaturase 5							132.0	114.0	120.0					4																	83557824		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83557824G>A	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.722C>T	4.37:g.83557824G>A	ENSP00000316329:p.Ala241Val						p.A241V	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			4	1041	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	241					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.722C>T	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128336	0.56721	.	.	ENSG00000145284	ENST00000319540	T	0.18338	2.22	5.08	3.25	0.37280	Fatty acid desaturase, type 1 (1);	0.148693	0.64402	N	0.000011	T	0.22898	0.0553	M	0.73372	2.23	0.80722	D	1	B	0.21381	0.055	B	0.32090	0.14	T	0.03112	-1.1071	10	0.39692	T	0.17	-6.526	11.1724	0.48579	0.1552:0.0:0.8448:0.0	.	241	Q86SK9	SCD5_HUMAN	V	241	ENSP00000316329:A241V	ENSP00000316329:A241V	A	-	2	0	SCD5	83776848	1.000000	0.71417	0.380000	0.26093	0.910000	0.53928	5.940000	0.70187	0.754000	0.32968	0.655000	0.94253	GCC		0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		34	47	0	0	0	1	0	34	47				
OR4C6	219432	broad.mit.edu	37	11	55433471	55433471	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:55433471A>G	ENST00000314259.3	+	1	858	c.829A>G	c.(829-831)Aca>Gca	p.T277A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAATCATCACACCCATGTT	0.453																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(829-831)Aca>Gca		olfactory receptor, family 4, subfamily C, member 6							94.0	92.0	93.0					11																	55433471		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433471A>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.829A>G	11.37:g.55433471A>G	ENSP00000324769:p.Thr277Ala						p.T277A	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	858	+			277					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.829A>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.300413	0.23650	.	.	ENSG00000181903	ENST00000314259	T	0.37752	1.18	4.0	-3.83	0.04269	GPCR, rhodopsin-like superfamily (1);	0.856054	0.09698	N	0.767401	T	0.31327	0.0793	M	0.73430	2.235	0.09310	N	1	B	0.12630	0.006	B	0.20577	0.03	T	0.44221	-0.9342	10	0.54805	T	0.06	.	2.2777	0.04106	0.3835:0.1292:0.3607:0.1266	.	277	Q8NH72	OR4C6_HUMAN	A	277	ENSP00000324769:T277A	ENSP00000324769:T277A	T	+	1	0	OR4C6	55190047	0.000000	0.05858	0.001000	0.08648	0.841000	0.47740	-0.939000	0.03933	-0.704000	0.05042	0.433000	0.28618	ACA		0.453	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		42	54	0	0	0	1	0	42	54				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			26	32	0	0	0	1	0	26	32				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	77	0	0	0	1	0	3	77				
TPX2	22974	broad.mit.edu	37	20	30371533	30371533	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30371533G>A	ENST00000300403.6	+	12	1750	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	TPX2_ENST00000340513.4_Missense_Mutation_p.D444N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	408					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACGTGAACTTGATCCCAGAAT	0.363																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1330-1332)Gat>Aat		TPX2, microtubule-associated							69.0	74.0	72.0					20																	30371533		2203	4299	6502	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30371533G>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1222G>A	20.37:g.30371533G>A	ENSP00000300403:p.Asp408Asn					TPX2_ENST00000300403.6_Missense_Mutation_p.D408N	p.D444N			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		13	1858	+			408					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1330G>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890844	0.72524	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.24723	1.84	5.7	5.7	0.88788	.	0.052367	0.64402	D	0.000001	T	0.34542	0.0901	L	0.28608	0.87	0.48975	D	0.999737	D;P	0.89917	1.0;0.906	D;P	0.91635	0.999;0.649	T	0.03184	-1.1063	10	0.08179	T	0.78	-19.2436	14.0584	0.64784	0.0739:0.0:0.9261:0.0	.	444;408	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	408;444	ENSP00000341145:D444N	ENSP00000300403:D408N	D	+	1	0	TPX2	29835194	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.594000	0.46189	2.683000	0.91414	0.650000	0.86243	GAT		0.363	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			10	114	0	0	0	1	0	10	114				
SYT9	143425	broad.mit.edu	37	11	7439282	7439282	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:7439282C>T	ENST00000318881.6	+	5	1497	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	420	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGTTTACAACGAAGCCATAG	0.468																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1258-1260)aaC>aaT		synaptotagmin IX							181.0	151.0	161.0					11																	7439282		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7439282C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1260C>T	11.37:g.7439282C>T							p.N420N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	5	1497	+			420			C2 2.			Silent	SNP	ENST00000318881.6	37	c.1260C>T	CCDS7778.1																																																																																				0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		12	51	0	0	0	1	0	12	51				
EIF2AK3	9451	broad.mit.edu	37	2	88874643	88874643	+	Silent	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:88874643T>C	ENST00000303236.3	-	13	2659	c.2358A>G	c.(2356-2358)gaA>gaG	p.E786E	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Silent_p.E635E|EIF2AK3_ENST00000470706.1_Intron	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	786	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AAGGACAAAGTTCAAAGGAGT	0.453																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2356-2358)gaA>gaG		eukaryotic translation initiation factor 2-alpha kinase 3							265.0	264.0	264.0					2																	88874643		2203	4300	6503	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874643T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2358A>G	2.37:g.88874643T>C						EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Silent_p.E635E|AC104134.2_ENST00000413234.1_RNA	p.E786E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	2659	-			786			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.2358A>G	CCDS33241.1																																																																																				0.453	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		109	123	0	0	0	1	0	109	123				
MSI1	4440	broad.mit.edu	37	12	120791134	120791134	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:120791134C>A	ENST00000257552.2	-	10	789	c.701G>T	c.(700-702)gGc>gTc	p.G234V	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	234					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGAGGCCTGTATAACT	0.612																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(700-702)gGc>gTc		musashi RNA-binding protein 1							134.0	129.0	131.0					12																	120791134		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120791134C>A	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.701G>T	12.37:g.120791134C>A	ENSP00000257552:p.Gly234Val					MSI1_ENST00000546622.1_5'UTR	p.G234V	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			10	789	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		234					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.701G>T	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.641290|4.641290	0.87859|0.87859	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000546985|ENST00000257552	.|T	.|0.32023	.|1.47	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.54464|0.54464	0.1860|0.1860	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.64687	.|0.928	T|T	0.60989|0.60989	-0.7153|-0.7153	5|10	.|0.87932	.|D	.|0	.|.	17.8017|17.8017	0.88589|0.88589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|234	.|O43347	.|MSI1H_HUMAN	S|V	166|234	.|ENSP00000257552:G234V	.|ENSP00000257552:G234V	A|G	-|-	1|2	0|0	MSI1|MSI1	119275517|119275517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	7.276000|7.276000	0.78559|0.78559	2.166000|2.166000	0.68216|0.68216	0.455000|0.455000	0.32223|0.32223	GCC|GGC		0.612	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		43	54	1	0	6.61955e-31	1	7.44699e-31	43	54				
CDC42BPG	55561	broad.mit.edu	37	11	64597514	64597514	+	Silent	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:64597514G>A	ENST00000342711.5	-	30	3395	c.3396C>T	c.(3394-3396)cgC>cgT	p.R1132R	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCTGCTGCACGCGCCGGCACT	0.662																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3394-3396)cgC>cgT		CDC42 binding protein kinase gamma (DMPK-like)							27.0	28.0	28.0					11																	64597514		2200	4296	6496	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64597514G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3396C>T	11.37:g.64597514G>A							p.R1132R	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			30	3395	-			1132			CNH.			Silent	SNP	ENST00000342711.5	37	c.3396C>T	CCDS31601.1																																																																																				0.662	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		14	22	0	0	0	1	0	14	22				
CDCP1	64866	broad.mit.edu	37	3	45160021	45160021	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:45160021C>G	ENST00000296129.1	-	2	309	c.175G>C	c.(175-177)Gtc>Ctc	p.V59L	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(175-177)Gtc>Ctc		CUB domain containing protein 1							115.0	116.0	116.0					3																	45160021		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45160021C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.175G>C	3.37:g.45160021C>G	ENSP00000296129:p.Val59Leu					CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L	p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	309	-			59					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.175G>C	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092646	0.20471	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.43688	1.94;0.94	5.33	-10.7	0.00240	.	2.796970	0.00763	N	0.001153	T	0.23649	0.0572	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11842	-1.0571	10	0.11794	T	0.64	.	4.39	0.11335	0.1527:0.3987:0.2992:0.1493	.	59;59	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	L	59	ENSP00000296129:V59L;ENSP00000399342:V59L	ENSP00000296129:V59L	V	-	1	0	CDCP1	45135025	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.742000	0.00191	-2.549000	0.00480	-1.036000	0.02392	GTC		0.428	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		26	43	0	0	0	1	0	26	43				
SLC17A4	10050	broad.mit.edu	37	6	25769311	25769311	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:25769311A>G	ENST00000377905.4	+	3	309	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	SLC17A4_ENST00000397076.2_Missense_Mutation_p.M10V|SLC17A4_ENST00000439485.2_Missense_Mutation_p.M64V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	64					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATCCCAGCTATGGTGAACAA	0.478																																						ENST00000377905.4																			0				breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(190-192)Atg>Gtg		solute carrier family 17, member 4							109.0	108.0	108.0					6																	25769311		2203	4300	6503	SO:0001583	missense	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25769311A>G	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.190A>G	6.37:g.25769311A>G	ENSP00000367137:p.Met64Val					SLC17A4_ENST00000439485.2_Missense_Mutation_p.M64V|SLC17A4_ENST00000397076.2_Missense_Mutation_p.M10V	p.M64V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN			3	309	+			64					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	c.190A>G	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776452	0.31411	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.77877	0.27;0.33;-1.13	5.32	5.32	0.75619	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.418578	0.22840	N	0.054985	D	0.89636	0.6772	H	0.97291	3.975	0.23598	N	0.997325	P;P;D	0.67145	0.897;0.872;0.996	P;B;D	0.79108	0.675;0.392;0.992	D	0.85443	0.1156	10	0.87932	D	0	.	11.9836	0.53133	1.0:0.0:0.0:0.0	.	64;10;64	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	V	64;64;10	ENSP00000367137:M64V;ENSP00000391345:M64V;ENSP00000380266:M10V	ENSP00000367137:M64V	M	+	1	0	SLC17A4	25877290	0.999000	0.42202	0.956000	0.39512	0.375000	0.29983	5.532000	0.67154	2.146000	0.66826	0.460000	0.39030	ATG		0.478	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			20	36	0	0	0	1	0	20	36				
GPR97	222487	broad.mit.edu	37	16	57722359	57722359	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:57722359G>A	ENST00000333493.4	+	12	1797	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	546					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCACTCCGCATCTcaaga	0.552																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1636-1638)Gca>Aca		G protein-coupled receptor 97							131.0	118.0	123.0					16																	57722359		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57722359G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1636G>A	16.37:g.57722359G>A	ENSP00000332900:p.Ala546Thr					GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T|RP11-405F3.4_ENST00000563062.1_RNA	p.A546T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			12	1797	+			546					Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.1636G>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	8.952	0.968341	0.18659	.	.	ENSG00000182885	ENST00000333493;ENST00000450388	T;T	0.28895	1.59;1.61	5.53	-5.82	0.02333	.	.	.	.	.	T	0.10551	0.0258	N	0.04508	-0.205	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.31503	-0.9941	9	0.21540	T	0.41	.	7.6282	0.28224	0.5974:0.0:0.2772:0.1254	.	546	Q86Y34	GPR97_HUMAN	T	546;426	ENSP00000332900:A546T;ENSP00000404803:A426T	ENSP00000332900:A546T	A	+	1	0	GPR97	56279860	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.872000	0.04219	-1.213000	0.02617	-0.367000	0.07326	GCA		0.552	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		33	38	0	0	0	1	0	33	38				
KRT73	319101	broad.mit.edu	37	12	53005016	53005016	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:53005016C>T	ENST00000305748.3	-	6	1116	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	361	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AATCTCCGAGCGCAGTCTTTG	0.567																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1081-1083)cGc>cAc		keratin 73							146.0	126.0	133.0					12																	53005016		2203	4300	6503	SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53005016C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1082G>A	12.37:g.53005016C>T	ENSP00000307014:p.Arg361His					RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	p.R361H	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1116	-			361			Coil 2.|Rod.		Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	c.1082G>A	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459794	0.43736	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;T	0.89050	-2.46;-1.13	5.61	3.8	0.43715	Filament (1);	0.000000	0.52532	D	0.000066	D	0.88757	0.6523	M	0.86420	2.815	0.27955	N	0.93699	B	0.27951	0.195	B	0.29524	0.103	D	0.83622	0.0140	10	0.62326	D	0.03	.	7.2549	0.26171	0.0:0.635:0.0:0.365	.	361	Q86Y46	K2C73_HUMAN	H	361;106	ENSP00000307014:R361H;ENSP00000449081:R106H	ENSP00000307014:R361H	R	-	2	0	KRT73	51291283	0.000000	0.05858	0.918000	0.36340	0.784000	0.44337	-0.178000	0.09782	0.866000	0.35629	0.555000	0.69702	CGC		0.567	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		21	70	0	0	0	1	0	21	70				
MST1L	11223	broad.mit.edu	37	1	17083787	17083787	+	RNA	SNP	G	G	A	rs201551314	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:17083787G>A	ENST00000455405.2	-	0	801							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCGTGAAGACGGCTGGCCAGC	0.552																																						ENST00000455405.2																			0																																																			0							g.chr1:17083787G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083787G>A														0	801	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.552	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	25	0	0	0	1	0	4	25				
NEU2	4759	broad.mit.edu	37	2	233898830	233898830	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:233898830A>G	ENST00000233840.3	+	2	206	c.206A>G	c.(205-207)cAa>cGa	p.Q69R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	69					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	ACTCAGTGGCAAGCTCAGGAG	0.622																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(205-207)cAa>cGa		sialidase 2 (cytosolic sialidase)							86.0	86.0	86.0					2																	233898830		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233898830A>G	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.206A>G	2.37:g.233898830A>G	ENSP00000233840:p.Gln69Arg						p.Q69R	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	206	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	69					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.206A>G	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	A	9.201	1.028496	0.19512	.	.	ENSG00000115488	ENST00000233840	D	0.83837	-1.77	4.73	3.58	0.41010	Neuraminidase (2);	0.492957	0.19537	N	0.111892	T	0.78910	0.4358	L	0.57536	1.79	0.22771	N	0.99876	B	0.30104	0.268	B	0.34452	0.183	T	0.66069	-0.6015	10	0.31617	T	0.26	-2.0704	8.4548	0.32893	0.833:0.0:0.167:0.0	.	69	Q9Y3R4	NEUR2_HUMAN	R	69	ENSP00000233840:Q69R	ENSP00000233840:Q69R	Q	+	2	0	NEU2	233607074	0.841000	0.29509	0.699000	0.30290	0.934000	0.57294	1.695000	0.37763	0.676000	0.31285	0.459000	0.35465	CAA		0.622	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		41	58	0	0	0	1	0	41	58				
SLC5A10	125206	broad.mit.edu	37	17	18872700	18872700	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:18872700T>C	ENST00000395645.3	+	7	623	c.605T>C	c.(604-606)aTc>aCc	p.I202T	SLC5A10_ENST00000395647.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	202					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGACGCTCATCATGGTGGTG	0.637																																						ENST00000395647.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(604-606)aTc>aCc		solute carrier family 5 (sodium/sugar cotransporter), member 10							56.0	64.0	62.0					17																	18872700		2165	4276	6441	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18872700T>C		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.605T>C	17.37:g.18872700T>C	ENSP00000379007:p.Ile202Thr					FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395645.3_Missense_Mutation_p.I202T|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron	p.I202T	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN			7	646	+			202					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.605T>C	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427568	0.83667	.	.	ENSG00000154025	ENST00000395647;ENST00000417251;ENST00000395645	D;D;D	0.89681	-2.55;-2.55;-2.55	4.94	4.94	0.65067	.	0.180867	0.34314	U	0.004079	D	0.94876	0.8344	H	0.94462	3.54	0.80722	D	1	D;D;P	0.53885	0.963;0.963;0.954	P;P;P	0.56216	0.794;0.794;0.786	D	0.96174	0.9125	10	0.87932	D	0	.	14.5635	0.68156	0.0:0.0:0.0:1.0	.	202;202;202	B4DPI0;A0PJK1;A0PJK1-4	.;SC5AA_HUMAN;.	T	202	ENSP00000379008:I202T;ENSP00000401875:I202T;ENSP00000379007:I202T	ENSP00000379007:I202T	I	+	2	0	SLC5A10	18813425	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.926000	0.63433	1.998000	0.58463	0.459000	0.35465	ATC		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		31	44	0	0	0	1	0	31	44				
TMTC3	160418	broad.mit.edu	37	12	88566414	88566414	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:88566414A>G	ENST00000266712.6	+	8	1311	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	364					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCTGCATCGAACCTTTTTTTT	0.308																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1090-1092)aAc>aGc		transmembrane and tetratricopeptide repeat containing 3							135.0	127.0	130.0					12																	88566414		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88566414A>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1091A>G	12.37:g.88566414A>G	ENSP00000266712:p.Asn364Ser						p.N364S	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1311	+			364					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1091A>G	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627275	0.87560	.	.	ENSG00000139324	ENST00000266712	T	0.65916	-0.18	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89143	0.3518	10	0.56958	D	0.05	-14.6343	15.6784	0.77349	1.0:0.0:0.0:0.0	.	364	Q6ZXV5-2	.	S	364	ENSP00000266712:N364S	ENSP00000266712:N364S	N	+	2	0	TMTC3	87090545	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.339000	0.96797	2.090000	0.63153	0.528000	0.53228	AAC		0.308	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		41	72	0	0	0	1	0	41	72				
ANK1	286	broad.mit.edu	37	8	41529994	41529994	+	Silent	SNP	G	G	A	rs149859024	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr8:41529994G>A	ENST00000347528.4	-	38	5057	c.4974C>T	c.(4972-4974)gaC>gaT	p.D1658D	ANK1_ENST00000352337.4_Silent_p.D1658D|ANK1_ENST00000289734.7_Silent_p.D1658D|ANK1_ENST00000396942.1_Silent_p.D1658D|ANK1_ENST00000265709.8_Silent_p.D1699D|ANK1_ENST00000379758.2_Silent_p.D1658D|ANK1_ENST00000396945.1_Silent_p.D1658D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1658	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CACCTGTCGCGTCATCCTGCC	0.537													G|||	8	0.00159744	0.0	0.0043	5008	,	,		19902	0.0		0.003	False		,,,				2504	0.002					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4972-4974)gaC>gaT		ankyrin 1, erythrocytic		G	,,,,	5,4401	9.9+/-24.2	0,5,2198	225.0	200.0	209.0		4974,5097,4974,4974,	4.2	0.6	8	dbSNP_134	209	67,8533	40.8+/-97.7	0,67,4233	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	,,,,	0,72,6431	AA,AG,GG		0.7791,0.1135,0.5536	,,,,	1658/1881,1699/1898,1658/1857,1658/1882,	41529994	72,12934	2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41529994G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4974C>T	8.37:g.41529994G>A						ANK1_ENST00000289734.7_Silent_p.D1658D|ANK1_ENST00000347528.4_Silent_p.D1658D|ANK1_ENST00000396945.1_Silent_p.D1658D|ANK1_ENST00000379758.2_Silent_p.D1658D|ANK1_ENST00000352337.4_Silent_p.D1658D|ANK1_ENST00000265709.8_Silent_p.D1699D	p.D1658D			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		38	5057	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1658			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4974C>T	CCDS6119.1																																																																																				0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	183	0	0	0	1	0	4	183				
PCDHB5	26167	broad.mit.edu	37	5	140515080	140515080	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr5:140515080C>T	ENST00000231134.5	+	1	281	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	22					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATATTGTTGCTTTTGTGGGA	0.488																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(64-66)Ctt>Ttt									102.0	91.0	95.0					5																	140515080		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515080C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.64C>T	5.37:g.140515080C>T	ENSP00000231134:p.Leu22Phe						p.L22F	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	281	+			22					Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.64C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.177034	0.06380	.	.	ENSG00000113209	ENST00000231134	T	0.54479	0.57	5.37	-2.2	0.06994	.	.	.	.	.	T	0.37073	0.0990	L	0.48174	1.505	0.24126	N	0.995787	B	0.06786	0.001	B	0.13407	0.009	T	0.34527	-0.9825	9	0.09590	T	0.72	.	7.4182	0.27057	0.0:0.4142:0.1108:0.475	.	22	Q9Y5E4	PCDB5_HUMAN	F	22	ENSP00000231134:L22F	ENSP00000231134:L22F	L	+	1	0	PCDHB5	140495264	0.000000	0.05858	0.962000	0.40283	0.764000	0.43329	-2.577000	0.00909	-0.124000	0.11724	0.555000	0.69702	CTT		0.488	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		20	34	0	0	0	1	0	20	34				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	6						3	6	---	---	---	---
TRBV7-7	28591	broad.mit.edu	37	7	142120169	142120170	+	RNA	DEL	CA	CA	-	rs566281538|rs534874890|rs558731694	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:142120169_142120170delCA	ENST00000390377.1	-	0	49									T cell receptor beta variable 7-7																		GTAGTCATCTcacacacacaca	0.426																																						ENST00000390377.1																			0																																																			0							g.chr7:142120169_142120170delCA	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120179_142120180delCA														0	49	-									RNA	DEL	ENST00000390377.1	37																																																																																						0.426	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		7	30						7	30	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60069953	60069957	+	Frame_Shift_Del	DEL	GTAGA	GTAGA	-	rs147040027		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:60069953_60069957delGTAGA	ENST00000267484.5	-	7	2537_2541	c.2202_2206delTCTAC	c.(2200-2208)actctacctfs	p.LP735fs	RTN1_ENST00000395090.1_Frame_Shift_Del_p.LP152fs|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Frame_Shift_Del_p.LP167fs	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	735	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAACATTG	0.298																																						ENST00000267484.5																			1	Substitution - Missense(1)	p.P736S(1)	lung(1)	central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(2200-2208)acctfs		reticulon 1																																				SO:0001589	frameshift_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069953_60069957delGTAGA	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2202_2206delTCTAC	14.37:g.60069953_60069957delGTAGA	ENSP00000267484:p.Leu735fs					RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_Frame_Shift_Del_p.TLP151fs|RTN1_ENST00000342503.4_Frame_Shift_Del_p.TLP166fs	p.TLP734fs	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	7	2537_2541	-			734			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Frame_Shift_Del	DEL	ENST00000267484.5	37	c.2202_2206delTCTAC	CCDS9740.1																																																																																				0.298	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			13	53						13	53	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			7	42						7	42	---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49920666	49920668	+	In_Frame_Del	DEL	CTG	CTG	-	rs139882972		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:49920666_49920668delCTG	ENST00000447857.3	+	20	1793_1795	c.1588_1590delCTG	c.(1588-1590)ctgdel	p.L536del		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	536	Poly-Leu.					chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGTCCTGGGCctgctgctgctgc	0.65																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1588-1590)del		coiled-coil domain containing 155				2,210,3744		1,0,0,70,70,1837						-4.5	0.9		dbSNP_134	52	8,291,7573		1,0,6,67,157,3705	no	codingComplex	CCDC155	NM_144688.4		2,0,6,137,227,5542	A1A1,A1A2,A1R,A2A2,A2R,RR		3.7983,5.3589,4.3203				10,501,11317				SO:0001651	inframe_deletion	147872					integral to membrane	calcium ion binding	g.chr19:49920666_49920668delCTG		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1588_1590delCTG	19.37:g.49920675_49920677delCTG	ENSP00000404220:p.Leu536del						p.L536del	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			20	1793_1795	+			536			Poly-Leu.		Q96MC3	In_Frame_Del	DEL	ENST00000447857.3	37	c.1588_1590delCTG	CCDS46140.1																																																																																				0.650	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		2	4						2	4	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17119421	17119422	+	lincRNA	INS	-	-	ATTT	rs201717356|rs371888525		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:17119421_17119422insATTT	ENST00000426585.1	+	0	280									transmembrane phosphatase with tensin homology pseudogene 1																		TTTATCTTTGCatttatttatt	0.351																																						ENST00000426585.1																			0																																																			0							g.chr22:17119421_17119422insATTT			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17119426_17119429dupATTT														0	280	+									RNA	INS	ENST00000426585.1	37																																																																																						0.351	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		5	3						5	3	---	---	---	---
STK26	51765	broad.mit.edu	37	X	131207081	131207109	+	Frame_Shift_Del	DEL	ACAGATAAAATGGTGAAGAAACTAATTGA	ACAGATAAAATGGTGAAGAAACTAATTGA	-			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:131207081_131207109delACAGATAAAATGGTGAAGAAACTAATTGA	ENST00000354719.6	+	10	1330_1358	c.1114_1142delACAGATAAAATGGTGAAGAAACTAATTGA	c.(1114-1143)acagataaaatggtgaagaaactaattgaafs	p.TDKMVKKLIE372fs	MST4_ENST00000394335.2_Frame_Shift_Del_p.TDKMVKKLIE319fs|MST4_ENST00000496850.1_Frame_Shift_Del_p.TDKMVKKLIE334fs|MST4_ENST00000481105.1_Frame_Shift_Del_p.TDKMVKKLIE418fs|MST4_ENST00000394334.2_Frame_Shift_Del_p.TDKMVKKLIE396fs																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCCCGGCATCACAGATAAAATGGTGAAGAAACTAATTGAAAAATTTCAA	0.358																																						ENST00000394334.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(1186-1215)afs																																						SO:0001589	frameshift_variant	0				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131207081_131207109delACAGATAAAATGGTGAAGAAACTAATTGA																												ENST00000354719.6:c.1114_1142delACAGATAAAATGGTGAAGAAACTAATTGA	X.37:g.131207081_131207109delACAGATAAAATGGTGAAGAAACTAATTGA	ENSP00000346755:p.Thr372fs					MST4_ENST00000496850.1_Frame_Shift_Del_p.TDKMVKKLIE334fs|MST4_ENST00000481105.1_Frame_Shift_Del_p.TDKMVKKLIE418fs|MST4_ENST00000354719.6_Frame_Shift_Del_p.TDKMVKKLIE372fs|MST4_ENST00000394335.2_Frame_Shift_Del_p.TDKMVKKLIE319fs	p.TDKMVKKLIE396fs	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN			11	1439_1467	+	Acute lymphoblastic leukemia(192;0.000127)		396						Frame_Shift_Del	DEL	ENST00000354719.6	37	c.1186_1214delACAGATAAAATGGTGAAGAAACTAATTGA																																																																																					0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			8	146						8	146	---	---	---	---
