#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
NAT8	9027	broad.mit.edu	37	2	73868451	73868451	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:73868451A>G	ENST00000272425.3	-	2	454	c.305T>C	c.(304-306)cTg>cCg	p.L102P		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						ACGCTCACTCAGGTAGGATTT	0.537																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(304-306)cTg>cCg		N-acetyltransferase 8 (GCN5-related, putative)							122.0	116.0	118.0					2																	73868451		2203	4300	6503	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868451A>G	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.305T>C	2.37:g.73868451A>G	ENSP00000272425:p.Leu102Pro		Somatic					p.L102P	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	WXS	Illumina GAIIx	Phase_I	Q9UHE5	NAT8_HUMAN			2	454	-			102			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000272425.3	37	c.305T>C	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182608	0.57800	.	.	ENSG00000144035	ENST00000272425	T	0.38887	1.11	3.86	3.86	0.44501	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.264472	0.31566	N	0.007424	T	0.63177	0.2489	M	0.80982	2.52	0.30716	N	0.748778	D	0.89917	1.0	D	0.77557	0.99	T	0.66685	-0.5861	10	0.56958	D	0.05	-13.6029	11.3146	0.49383	1.0:0.0:0.0:0.0	.	102	Q9UHE5	NAT8_HUMAN	P	102	ENSP00000272425:L102P	ENSP00000272425:L102P	L	-	2	0	NAT8	73721959	0.538000	0.26394	0.006000	0.13384	0.139000	0.21198	5.734000	0.68580	1.715000	0.51383	0.524000	0.50904	CTG		0.537	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		49	146	0	0	0	0.870114	0	49	146				
ATP2A2	488	broad.mit.edu	37	12	110734534	110734534	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:110734534A>T	ENST00000539276.2	+	5	564	c.455A>T	c.(454-456)gAa>gTa	p.E152V	ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000395494.2_Missense_Mutation_p.E152V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E152V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	152					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATATTGTAGAAATTGCTGGT	0.343																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(454-456)gAa>gTa		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							139.0	131.0	133.0					12																	110734534		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110734534A>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.455A>T	12.37:g.110734534A>T	ENSP00000440045:p.Glu152Val		Somatic				ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E152V|ATP2A2_ENST00000539276.2_Missense_Mutation_p.E152V	p.E152V			WXS	Illumina GAIIx	Phase_I	P16615	AT2A2_HUMAN			5	1018	+			152					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.455A>T	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.181704|4.181704	0.78677|0.78677	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276;ENST00000550248|ENST00000548169	D;D;D|.	0.89746|.	-2.56;-2.56;-2.56|.	5.45|5.45	5.45|5.45	0.79879|0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.044860|.	0.85682|.	D|.	0.000000|.	T|T	0.50956|0.50956	0.1646|0.1646	N|N	0.17674|0.17674	0.51|0.51	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26400|.	0.08;0.069;0.148|.	B;B;B|.	0.34385|.	0.087;0.079;0.181|.	T|T	0.48091|0.48091	-0.9065|-0.9065	9|5	.|.	.|.	.|.	.|.	15.4965|15.4965	0.75658|0.75658	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	152;152;152|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	V|S	152;152;152;27|69	ENSP00000311186:E152V;ENSP00000378872:E152V;ENSP00000440045:E152V|.	.|.	E|R	+|+	2|3	0|2	ATP2A2|ATP2A2	109218917|109218917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.953000|8.953000	0.93041|0.93041	2.062000|2.062000	0.61559|0.61559	0.472000|0.472000	0.43445|0.43445	GAA|AGA		0.343	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		26	94	0	0	0	0.667858	0	26	94				
CACYBP	27101	broad.mit.edu	37	1	174973869	174973869	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:174973869A>T	ENST00000367679.2	+	2	583	c.135A>T	c.(133-135)caA>caT	p.Q45H	CACYBP_ENST00000405362.1_Missense_Mutation_p.Q2H|CACYBP_ENST00000406752.1_Missense_Mutation_p.Q45H|CACYBP_ENST00000367681.2_Missense_Mutation_p.Q2H	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	45	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						ACAAGATGCAACAGAAATCAC	0.403																																						ENST00000367681.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(4-6)caA>caT		calcyclin binding protein							97.0	92.0	94.0					1																	174973869		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174973869A>T	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.135A>T	1.37:g.174973869A>T	ENSP00000356652:p.Gln45His		Somatic				CACYBP_ENST00000367679.2_Missense_Mutation_p.Q45H|CACYBP_ENST00000405362.1_Missense_Mutation_p.Q2H|CACYBP_ENST00000406752.1_Missense_Mutation_p.Q45H	p.Q2H	NM_001007214.1	NP_001007215.1	WXS	Illumina GAIIx	Phase_I	Q9HB71	CYBP_HUMAN			2	646	+			45			Interaction with SIAH1.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.6A>T	CCDS1315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.058537|4.058537	0.76074|0.76074	.|.	.|.	ENSG00000116161|ENSG00000116161	ENST00000450101|ENST00000367681;ENST00000426793;ENST00000367679;ENST00000406752;ENST00000405362	.|.	.|.	.|.	5.96|5.96	0.257|0.257	0.15574|0.15574	.|Siah interacting protein, N-terminal (1);	.|0.151725	.|0.64402	.|D	.|0.000011	T|T	0.55321|0.55321	0.1913|0.1913	L|L	0.46157|0.46157	1.445|1.445	0.52099|0.52099	D|D	0.999942|0.999942	.|P;B	.|0.48503	.|0.911;0.044	.|P;B	.|0.49752	.|0.621;0.067	T|T	0.52109|0.52109	-0.8619|-0.8619	6|9	0.56958|0.44086	D|T	0.05|0.13	-0.6664|-0.6664	11.6959|11.6959	0.51542|0.51542	0.3554:0.0:0.6446:0.0|0.3554:0.0:0.6446:0.0	.|.	.|45;45	.|B4DFD3;Q9HB71	.|.;CYBP_HUMAN	I|H	19|2;45;45;45;2	.|.	ENSP00000391343:N19I|ENSP00000356652:Q45H	N|Q	+|+	2|3	0|2	CACYBP|CACYBP	173240492|173240492	0.176000|0.176000	0.23096|0.23096	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	-0.460000|-0.460000	0.06720|0.06720	-0.220000|-0.220000	0.09988|0.09988	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.403	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		28	72	0	0	0	0.681144	0	28	72				
PRKDC	5591	broad.mit.edu	37	8	48762023	48762023	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr8:48762023C>A	ENST00000314191.2	-	54	7100	c.7044G>T	c.(7042-7044)ttG>ttT	p.L2348F	PRKDC_ENST00000338368.3_Missense_Mutation_p.L2348F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2349					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATGTTGCTTCAATTGTTTCG	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(7042-7044)ttG>ttT	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							145.0	134.0	137.0					8																	48762023		1871	4116	5987	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48762023C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7044G>T	8.37:g.48762023C>A	ENSP00000313420:p.Leu2348Phe		Somatic				PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L2348F	p.L2348F	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			54	7100	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2349					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7044G>T		.	.	.	.	.	.	.	.	.	.	C	11.56	1.673681	0.29693	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.73152	-0.72;-0.72	5.12	3.27	0.37495	Armadillo-type fold (1);	0.200994	0.33290	N	0.005063	T	0.81479	0.4831	M	0.80847	2.515	0.34910	D	0.747353	D;D	0.71674	0.997;0.998	D;D	0.65684	0.926;0.937	D	0.86901	0.2054	10	0.72032	D	0.01	.	10.2156	0.43166	0.0:0.7757:0.0:0.2243	.	2348;2349	E7EUY0;P78527	.;PRKDC_HUMAN	F	2348	ENSP00000313420:L2348F;ENSP00000345182:L2348F	ENSP00000313420:L2348F	L	-	3	2	PRKDC	48924576	1.000000	0.71417	0.980000	0.43619	0.032000	0.12392	1.053000	0.30442	1.252000	0.44001	0.655000	0.94253	TTG		0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		23	79	1	0	1.22574e-08	0.624587	1.41564e-08	23	79				
PGK1	5230	broad.mit.edu	37	X	77369583	77369583	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chrX:77369583T>A	ENST00000373316.4	+	4	510	c.343T>A	c.(343-345)Tct>Act	p.S115T	PGK1_ENST00000537456.1_Missense_Mutation_p.S87T|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	115					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	AGCTGCTGGGTCTGTCATCCT	0.493																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(343-345)Tct>Act		phosphoglycerate kinase 1							129.0	133.0	131.0					X																	77369583		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369583T>A	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.343T>A	X.37:g.77369583T>A	ENSP00000362413:p.Ser115Thr		Somatic				PGK1_ENST00000537456.1_Missense_Mutation_p.S87T|PGK1_ENST00000442431.1_Intron	p.S115T	NM_000291.3	NP_000282.1	WXS	Illumina GAIIx	Phase_I	P00558	PGK1_HUMAN			4	510	+			115					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.343T>A	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	t	13.03	2.113940	0.37339	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.91996	-2.95;-2.95	4.98	3.77	0.43336	Phosphoglycerate kinase, N-terminal (1);	0.103855	0.64402	N	0.000002	D	0.86904	0.6045	L	0.44542	1.39	0.39779	D	0.972275	B	0.14012	0.009	B	0.17433	0.018	T	0.79888	-0.1613	10	0.33940	T	0.23	-27.0334	8.0477	0.30559	0.3396:0.0:0.0:0.6604	.	115	P00558	PGK1_HUMAN	T	115;87	ENSP00000362413:S115T;ENSP00000444708:S87T	ENSP00000362413:S115T	S	+	1	0	PGK1	77256239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.733000	0.55029	0.626000	0.30322	0.478000	0.44815	TCT		0.493	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			86	79	0	0	0	0.870114	0	86	79				
PTEN	5728	broad.mit.edu	37	10	89712006	89712006	+	Silent	SNP	C	C	T	rs370162160		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr10:89712006C>T	ENST00000371953.3	+	6	1981	c.624C>T	c.(622-624)ggC>ggT	p.G208G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	208	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTCAGTGGCGGAACTTGCA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		52	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(622-624)ggC>ggT		phosphatase and tensin homolog		C		1,4405	2.1+/-5.4	0,1,2202	148.0	146.0	147.0		624	1.4	1.0	10		147	0,8600		0,0,4300	no	coding-synonymous	PTEN	NM_000314.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		208/404	89712006	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89712006C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.624C>T	10.37:g.89712006C>T		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.G208G	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1981	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	208			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	c.624C>T	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		77	247	0	0	0	0.870114	0	77	247				
DOCK3	1795	broad.mit.edu	37	3	51265449	51265449	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:51265449C>T	ENST00000266037.9	+	17	1600	c.1577C>T	c.(1576-1578)gCa>gTa	p.A526V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	526	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGGCTTTGCATTCTCAACC	0.448																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(1576-1578)gCa>gTa		dedicator of cytokinesis 3							156.0	146.0	149.0					3																	51265449		2001	4178	6179	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51265449C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1577C>T	3.37:g.51265449C>T	ENSP00000266037:p.Ala526Val		Somatic					p.A526V	NM_004947.4	NP_004938.1	WXS	Illumina GAIIx	Phase_I	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	17	1600	+			526			DHR-1.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.1577C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	36	5.791366	0.96945	.	.	ENSG00000088538	ENST00000266037	T	0.26660	1.72	5.96	5.96	0.96718	.	0.146426	0.64402	D	0.000009	T	0.51346	0.1669	M	0.81112	2.525	0.80722	D	1	P	0.45768	0.866	P	0.54431	0.752	T	0.51593	-0.8686	10	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	526	Q8IZD9	DOCK3_HUMAN	V	526	ENSP00000266037:A526V	ENSP00000266037:A526V	A	+	2	0	DOCK3	51240489	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GCA		0.448	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		21	38	0	0	0	0.639603	0	21	38				
HYDIN	54768	broad.mit.edu	37	16	70866802	70866802	+	Silent	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:70866802A>G	ENST00000393567.2	-	80	13998	c.13848T>C	c.(13846-13848)ccT>ccC	p.P4616P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4616					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTAGACTCAGAGGACTGCCTC	0.562																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13846-13848)ccT>ccC		HYDIN, axonemal central pair apparatus protein							17.0	25.0	23.0					16																	70866802		2006	4226	6232	SO:0001819	synonymous_variant	54768							g.chr16:70866802A>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13848T>C	16.37:g.70866802A>G			Somatic					p.P4616P	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			80	13998	-		Ovarian(137;0.0654)	4616					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.13848T>C	CCDS59269.1																																																																																				0.562	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	38	0	0	0	0.335167	0	7	38				
TRPM5	29850	broad.mit.edu	37	11	2433463	2433463	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:2433463G>T	ENST00000155858.6	-	16	2384	c.2376C>A	c.(2374-2376)gaC>gaA	p.D792E	TRPM5_ENST00000533060.1_Missense_Mutation_p.D792E|TRPM5_ENST00000528453.1_Missense_Mutation_p.D792E|TRPM5_ENST00000452833.1_Missense_Mutation_p.D794E	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGGTGTGTGTCCTCGTCTG	0.582																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2380-2382)gaC>gaA		transient receptor potential cation channel, subfamily M, member 5							219.0	184.0	196.0					11																	2433463		2202	4299	6501	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2433463G>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2376C>A	11.37:g.2433463G>T	ENSP00000155858:p.Asp792Glu		Somatic				TRPM5_ENST00000528453.1_Missense_Mutation_p.D792E|TRPM5_ENST00000155858.6_Missense_Mutation_p.D792E|TRPM5_ENST00000533060.1_Missense_Mutation_p.D792E	p.D794E			WXS	Illumina GAIIx	Phase_I	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	16	2390	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	792						Missense_Mutation	SNP	ENST00000155858.6	37	c.2382C>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150334	0.21371	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.54	3.63	0.41609	Ion transport (1);	0.125574	0.53938	D	0.000044	T	0.52108	0.1714	L	0.50333	1.59	0.34812	D	0.737779	B;B;B	0.31125	0.309;0.309;0.045	B;B;B	0.25884	0.064;0.064;0.056	T	0.55573	-0.8120	10	0.02654	T	1	-41.8507	11.8615	0.52469	0.0864:0.0:0.9136:0.0	.	792;794;792	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	E	786;792;794;792;792;792	ENSP00000434383:D786E;ENSP00000155858:D792E;ENSP00000387965:D794E;ENSP00000434121:D792E;ENSP00000436809:D792E	ENSP00000155858:D792E	D	-	3	2	TRPM5	2390039	0.998000	0.40836	0.926000	0.36857	0.481000	0.33189	1.372000	0.34261	1.055000	0.40461	0.591000	0.81541	GAC		0.582	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		50	159	1	0	1.4374e-25	0.870114	1.78586e-25	50	159				
HIVEP1	3096	broad.mit.edu	37	6	12164458	12164458	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:12164458G>A	ENST00000379388.2	+	9	8253	c.7921G>A	c.(7921-7923)Gca>Aca	p.A2641T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A506T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2641					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGCTGCCTCGGCAAATCACGT	0.507																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(7921-7923)Gca>Aca		human immunodeficiency virus type I enhancer binding protein 1							48.0	55.0	53.0					6																	12164458		2133	4248	6381	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12164458G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7921G>A	6.37:g.12164458G>A	ENSP00000368698:p.Ala2641Thr		Somatic				HIVEP1_ENST00000541134.1_Missense_Mutation_p.A506T	p.A2641T	NM_002114.2	NP_002105.2	WXS	Illumina GAIIx	Phase_I	P15822	ZEP1_HUMAN			9	8253	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	2641					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.7921G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792292	0.50102	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.32272	2.99;1.46	4.98	4.12	0.48240	.	0.769546	0.10601	N	0.655656	T	0.10852	0.0265	L	0.36672	1.1	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.28427	-1.0044	10	0.30854	T	0.27	-0.0547	11.4569	0.50187	0.1515:0.0:0.8485:0.0	.	2641	P15822	ZEP1_HUMAN	T	2641;506;623	ENSP00000368698:A2641T;ENSP00000445617:A506T	ENSP00000368698:A2641T	A	+	1	0	HIVEP1	12272444	0.000000	0.05858	0.001000	0.08648	0.787000	0.44495	0.703000	0.25646	1.114000	0.41781	0.585000	0.79938	GCA		0.507	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		4	58	0	0	0	0.150653	0	4	58				
COMMD10	51397	broad.mit.edu	37	5	115423221	115423221	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr5:115423221T>A	ENST00000274458.4	+	2	131	c.69T>A	c.(67-69)aaT>aaA	p.N23K	COMMD10_ENST00000515539.1_Missense_Mutation_p.N9K|CTD-2287O16.5_ENST00000606662.1_RNA	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	23										endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CACTGATAAATGCAATAGATA	0.353																																						ENST00000274458.4																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9						c.(67-69)aaT>aaA		COMM domain containing 10							128.0	132.0	130.0					5																	115423221		2202	4300	6502	SO:0001583	missense	51397						protein binding	g.chr5:115423221T>A	AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.69T>A	5.37:g.115423221T>A	ENSP00000274458:p.Asn23Lys		Somatic				COMMD10_ENST00000515539.1_Missense_Mutation_p.N9K	p.N23K	NM_016144.2	NP_057228.1	WXS	Illumina GAIIx	Phase_I	Q9Y6G5	COMDA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)	2	131	+		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)	23					D3DT07|Q9P077	Missense_Mutation	SNP	ENST00000274458.4	37	c.69T>A	CCDS34215.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.353311	0.61293	.	.	ENSG00000145781	ENST00000274458;ENST00000515539	T;T	0.09445	2.98;2.98	5.63	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.86343	2.81	0.38122	D	0.937894	D	0.89917	1.0	D	0.97110	1.0	T	0.17077	-1.0381	10	0.87932	D	0	-17.5671	7.9001	0.29729	0.0:0.224:0.0:0.776	.	23	Q9Y6G5	COMDA_HUMAN	K	23;9	ENSP00000274458:N23K;ENSP00000427319:N9K	ENSP00000274458:N23K	N	+	3	2	COMMD10	115451120	0.957000	0.32711	0.969000	0.41365	0.645000	0.38454	0.610000	0.24253	0.521000	0.28445	0.533000	0.62120	AAT		0.353	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371033.1	NM_016144		36	119	0	0	0	0.779181	0	36	119				
P2RX7	5027	broad.mit.edu	37	12	121570799	121570799	+	Missense_Mutation	SNP	A	A	G	rs200573297		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:121570799A>G	ENST00000546057.1	+	1	169	c.26A>G	c.(25-27)gAt>gGt	p.D9G	P2RX7_ENST00000377162.2_Missense_Mutation_p.D9G|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	9					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCTGCAGTGATGTTTTCCAG	0.547																																						ENST00000546057.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(25-27)gAt>gGt		purinergic receptor P2X, ligand-gated ion channel, 7							149.0	121.0	130.0					12																	121570799		2203	4300	6503	SO:0001583	missense	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121570799A>G	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.26A>G	12.37:g.121570799A>G	ENSP00000442349:p.Asp9Gly		Somatic				P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.D9G|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000535250.1_5'UTR	p.D9G	NM_002562.5	NP_002553.3	WXS	Illumina GAIIx	Phase_I	A8K2Z0	A8K2Z0_HUMAN			1	169	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		9					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	c.26A>G	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973249	0.34848	.	.	ENSG00000089041	ENST00000546057;ENST00000377162	T;T	0.08720	4.36;3.06	4.68	4.68	0.58851	.	0.107085	0.40469	N	0.001081	T	0.09905	0.0243	M	0.67953	2.075	0.80722	D	1	B	0.16166	0.016	B	0.11329	0.006	T	0.08785	-1.0705	10	0.12430	T	0.62	.	10.6771	0.45792	1.0:0.0:0.0:0.0	.	9	Q99572	P2RX7_HUMAN	G	9	ENSP00000442349:D9G;ENSP00000366367:D9G	ENSP00000261826:D9G	D	+	2	0	P2RX7	120055182	0.123000	0.22298	0.094000	0.20943	0.930000	0.56654	2.681000	0.46926	2.082000	0.62665	0.383000	0.25322	GAT		0.547	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		36	102	0	0	0	0.812448	0	36	102				
PRKDC	5591	broad.mit.edu	37	8	48762043	48762043	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr8:48762043C>T	ENST00000314191.2	-	54	7080	c.7024G>A	c.(7024-7026)Gaa>Aaa	p.E2342K	PRKDC_ENST00000338368.3_Missense_Mutation_p.E2342K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2343					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCAACCAGTTCACACAGAGAC	0.368								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(7024-7026)Gaa>Aaa	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							119.0	108.0	111.0					8																	48762043		1865	4117	5982	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48762043C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7024G>A	8.37:g.48762043C>T	ENSP00000313420:p.Glu2342Lys		Somatic				PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2342K	p.E2342K	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			54	7080	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2343					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.7024G>A		.	.	.	.	.	.	.	.	.	.	C	11.60	1.685885	0.29962	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65549	-0.16;-0.16	5.12	5.12	0.69794	Armadillo-type fold (1);	0.335270	0.31859	N	0.006959	T	0.62208	0.2409	M	0.64997	1.995	0.30851	N	0.734574	P;P	0.41313	0.565;0.745	B;B	0.38562	0.142;0.276	T	0.70096	-0.4966	10	0.52906	T	0.07	.	17.9172	0.88955	0.0:1.0:0.0:0.0	.	2342;2343	E7EUY0;P78527	.;PRKDC_HUMAN	K	2342	ENSP00000313420:E2342K;ENSP00000345182:E2342K	ENSP00000313420:E2342K	E	-	1	0	PRKDC	48924596	1.000000	0.71417	0.677000	0.29947	0.024000	0.10985	4.782000	0.62396	2.539000	0.85634	0.655000	0.94253	GAA		0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		20	55	0	0	0	0.575678	0	20	55				
TIPIN	54962	broad.mit.edu	37	15	66645153	66645153	+	Splice_Site	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:66645153C>T	ENST00000261881.4	-	2	218	c.133G>A	c.(133-135)Gag>Aag	p.E45K	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	45					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CTATACATACCTTCATCAGGC	0.498																																						ENST00000261881.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						c.e2+1		TIMELESS interacting protein							109.0	95.0	100.0					15																	66645153		2201	4299	6500	SO:0001630	splice_region_variant	54962				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding	g.chr15:66645153C>T	BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.133+1G>A	15.37:g.66645153C>T			Somatic				TIPIN_ENST00000367709.4_5'UTR	p.E45_splice	NM_017858.2	NP_060328.2	WXS	Illumina GAIIx	Phase_I	Q9BVW5	TIPIN_HUMAN			2	218	-			45					B2CW64|Q9NWZ6	Splice_Site	SNP	ENST00000261881.4	37	c.133_splice	CCDS10215.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164811	0.38217	.	.	ENSG00000075131	ENST00000261881	T	0.12774	2.65	4.71	4.71	0.59529	.	0.514105	0.20738	N	0.086588	T	0.16514	0.0397	L	0.56769	1.78	0.80722	D	1	B	0.21381	0.055	B	0.15052	0.012	T	0.03840	-1.0999	9	.	.	.	-4.4165	16.5679	0.84603	0.0:1.0:0.0:0.0	.	45	Q9BVW5	TIPIN_HUMAN	K	45	ENSP00000261881:E45K	.	E	-	1	0	TIPIN	64432207	1.000000	0.71417	1.000000	0.80357	0.281000	0.26958	4.689000	0.61723	2.302000	0.77476	0.455000	0.32223	GAG		0.498	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858	Missense_Mutation	19	58	0	0	0	0.592651	0	19	58				
HFM1	164045	broad.mit.edu	37	1	91784679	91784679	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:91784679A>C	ENST00000370425.3	-	25	2866	c.2768T>G	c.(2767-2769)cTt>cGt	p.L923R	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.L155R|HFM1_ENST00000370424.3_Missense_Mutation_p.L602R	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	923	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTCCCAAAGTTTACACCT	0.343																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2767-2769)cTt>cGt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							71.0	73.0	73.0					1																	91784679		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91784679A>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2768T>G	1.37:g.91784679A>C	ENSP00000359454:p.Leu923Arg		Somatic				HFM1_ENST00000294696.5_Missense_Mutation_p.L155R|HFM1_ENST00000370424.3_Missense_Mutation_p.L602R|HFM1_ENST00000462405.1_5'UTR	p.L923R	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	25	2866	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	923			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2768T>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989305	0.74589	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.63913	-0.07;-0.07;-0.07	5.14	5.14	0.70334	Sec63 domain (2);	0.000000	0.56097	U	0.000028	T	0.74038	0.3664	M	0.75264	2.295	0.40990	D	0.984843	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.78954	-0.2000	10	0.87932	D	0	.	15.2498	0.73536	1.0:0.0:0.0:0.0	.	602;923	A6NGI5;A2PYH4	.;HFM1_HUMAN	R	923;155;602;607	ENSP00000359454:L923R;ENSP00000294696:L155R;ENSP00000359453:L602R	ENSP00000294696:L155R	L	-	2	0	HFM1	91557267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.065000	0.61736	0.528000	0.53228	CTT		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		22	76	0	0	0	0.624587	0	22	76				
CCDC178	374864	broad.mit.edu	37	18	30847243	30847243	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr18:30847243C>A	ENST00000383096.3	-	13	1377	c.1195G>T	c.(1195-1197)Gtt>Ttt	p.V399F	CCDC178_ENST00000579947.1_Missense_Mutation_p.V399F|CCDC178_ENST00000403303.1_Missense_Mutation_p.V399F|CCDC178_ENST00000406524.2_Missense_Mutation_p.V399F|CCDC178_ENST00000402325.1_Missense_Mutation_p.V399F|CCDC178_ENST00000300227.8_Missense_Mutation_p.V399F|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.V399F			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	399																	TGGTCATAAACTCTTCTCAAA	0.308																																						ENST00000383096.3																			0											c.(1195-1197)Gtt>Ttt		coiled-coil domain containing 178							71.0	75.0	74.0					18																	30847243		2203	4296	6499	SO:0001583	missense	374864							g.chr18:30847243C>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1195G>T	18.37:g.30847243C>A	ENSP00000372576:p.Val399Phe		Somatic				CCDC178_ENST00000403303.1_Missense_Mutation_p.V399F|CCDC178_ENST00000583930.1_Missense_Mutation_p.V399F|CCDC178_ENST00000402325.1_Missense_Mutation_p.V399F|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.V399F|CCDC178_ENST00000579947.1_Missense_Mutation_p.V399F|CCDC178_ENST00000300227.8_Missense_Mutation_p.V399F	p.V399F			WXS	Illumina GAIIx	Phase_I					13	1377	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1195G>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	1.514	-0.548759	0.04024	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.07	-8.14	0.01069	.	.	.	.	.	T	0.26304	0.0642	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.10450	0.003;0.003;0.005;0.003	T	0.19910	-1.0291	9	0.54805	T	0.06	10.2872	4.3856	0.11314	0.0953:0.0964:0.333:0.4753	.	399;399;399;399	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	F	399	ENSP00000385591:V399F;ENSP00000372576:V399F;ENSP00000300227:V399F;ENSP00000385867:V399F;ENSP00000385234:V399F	ENSP00000300227:V399F	V	-	1	0	C18orf34	29101241	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.846000	0.00352	-3.581000	0.00137	-0.373000	0.07131	GTT		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		37	132	1	0	1.66425e-11	0.804634	2.00689e-11	37	132				
KLK12	43849	broad.mit.edu	37	19	51532649	51532649	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:51532649A>G	ENST00000525263.1	-	5	775	c.656T>C	c.(655-657)gTg>gCg	p.V219A	KLK11_ENST00000594458.1_5'Flank|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000594768.1_5'Flank|KLK12_ENST00000250352.11_Missense_Mutation_p.V109A|KLK12_ENST00000250351.4_Missense_Mutation_p.V219A|KLK12_ENST00000319590.4_Missense_Mutation_p.V219A|KLK11_ENST00000319720.7_5'Flank|KLK11_ENST00000391804.3_5'Flank|KLK11_ENST00000600362.1_5'Flank|KLK11_ENST00000453757.3_5'Flank|KLK12_ENST00000529888.1_3'UTR			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACAGGGCCCCACAGACCCCCA	0.552																																						ENST00000250352.11																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(325-327)gTg>gCg		kallikrein-related peptidase 12							90.0	90.0	90.0					19																	51532649		2203	4300	6503	SO:0001583	missense	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51532649A>G		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.656T>C	19.37:g.51532649A>G	ENSP00000436458:p.Val219Ala		Somatic				KLK12_ENST00000250351.4_Missense_Mutation_p.V219A|KLK12_ENST00000319590.4_Missense_Mutation_p.V219A|KLK12_ENST00000529888.1_3'UTR|KLK12_ENST00000525263.1_Missense_Mutation_p.V219A	p.V109A			WXS	Illumina GAIIx	Phase_I	Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	5	999	-		all_neural(266;0.026)	219			Peptidase S1.		Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	c.326T>C	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	a	16.42	3.119451	0.56505	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351	D;D;T;D	0.89617	-2.47;-2.47;1.58;-2.54	4.33	3.32	0.38043	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.139340	0.06912	N	0.807803	T	0.79695	0.4490	N	0.04260	-0.245	0.28076	N	0.932382	B;B;B;B	0.29481	0.067;0.245;0.206;0.245	B;B;B;B	0.35182	0.03;0.197;0.124;0.197	T	0.71606	-0.4542	10	0.54805	T	0.06	.	8.1269	0.31003	0.9015:0.0:0.0985:0.0	.	109;109;219;219	B9EGA9;Q49AM7;Q9UKR0-2;Q9UKR0	.;.;.;KLK12_HUMAN	A	219;219;109;219	ENSP00000436458:V219A;ENSP00000324181:V219A;ENSP00000250352:V109A;ENSP00000250351:V219A	ENSP00000250351:V219A	V	-	2	0	KLK12	56224461	0.002000	0.14202	0.773000	0.31616	0.942000	0.58702	1.067000	0.30616	0.826000	0.34661	0.448000	0.29417	GTG		0.552	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		35	99	0	0	0	0.788014	0	35	99				
PNPLA8	50640	broad.mit.edu	37	7	108155244	108155244	+	Missense_Mutation	SNP	C	C	A	rs373363815		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:108155244C>A	ENST00000422087.1	-	4	1098	c.692G>T	c.(691-693)cGg>cTg	p.R231L	PNPLA8_ENST00000257694.8_Missense_Mutation_p.R231L|PNPLA8_ENST00000426128.2_Missense_Mutation_p.R231L|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R231L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R231L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R131L|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	231					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TGATTTGTCCCGGAAATGTTC	0.343																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(691-693)cGg>cTg		patatin-like phospholipase domain containing 8							61.0	58.0	59.0					7																	108155244		2203	4299	6502	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155244C>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.692G>T	7.37:g.108155244C>A	ENSP00000410804:p.Arg231Leu		Somatic				PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R231L|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R231L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R131L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R231L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R231L	p.R231L	NM_001256009.1	NP_001242938.1	WXS	Illumina GAIIx	Phase_I	Q9NP80	PLPL8_HUMAN			2	817	-			231					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.692G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	4.350	0.064383	0.08388	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.97831	-3.36;-4.56;-3.36;-4.56;-4.56;-4.56;-4.56	5.78	1.8	0.24995	.	0.812175	0.11231	N	0.585663	D	0.88847	0.6548	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.80837	-0.1204	10	0.08381	T	0.77	.	2.2093	0.03944	0.2372:0.0721:0.2006:0.49	.	231	Q9NP80	PLPL8_HUMAN	L	231;231;231;231;131;231;131	ENSP00000394988:R231L;ENSP00000257694:R231L;ENSP00000373380:R231L;ENSP00000410804:R231L;ENSP00000387789:R131L;ENSP00000406779:R231L;ENSP00000402274:R131L	ENSP00000257694:R231L	R	-	2	0	PNPLA8	107942480	0.013000	0.17824	0.415000	0.26534	0.492000	0.33523	0.590000	0.23954	0.422000	0.26005	-0.312000	0.09012	CGG		0.343	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		16	98	1	0	2.31682e-05	0.479597	2.53306e-05	16	98				
PRKCB	5579	broad.mit.edu	37	16	24202477	24202477	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:24202477C>G	ENST00000321728.7	+	16	1964	c.1789C>G	c.(1789-1791)Cat>Gat	p.H597D	PRKCB_ENST00000303531.7_Missense_Mutation_p.H597D	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	597	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TATCAAAGAGCATGCATTTTT	0.453																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1789-1791)Cat>Gat		protein kinase C, beta	Vitamin E(DB00163)						118.0	116.0	117.0					16																	24202477		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24202477C>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1789C>G	16.37:g.24202477C>G	ENSP00000318315:p.His597Asp		Somatic				PRKCB_ENST00000321728.7_Missense_Mutation_p.H597D	p.H597D	NM_002738.6	NP_002729.2	WXS	Illumina GAIIx	Phase_I	P05771	KPCB_HUMAN			16	1941	+			597			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1789C>G	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884739	0.91814	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.58506	0.33;0.33	5.79	5.79	0.91817	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	M	0.86178	2.8	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.73708	0.968;0.981	T	0.82030	-0.0659	10	0.87932	D	0	.	18.5987	0.91239	0.0:1.0:0.0:0.0	.	597;597	P05771-2;P05771	.;KPCB_HUMAN	D	597	ENSP00000318315:H597D;ENSP00000305355:H597D	ENSP00000305355:H597D	H	+	1	0	PRKCB	24109978	1.000000	0.71417	0.988000	0.46212	0.951000	0.60555	7.487000	0.81328	2.744000	0.94065	0.650000	0.86243	CAT		0.453	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		21	129	0	0	0	0.592651	0	21	129				
TH	7054	broad.mit.edu	37	11	2189843	2189843	+	Missense_Mutation	SNP	C	C	T	rs201093528		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:2189843C>T	ENST00000381178.1	-	4	476	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	TH_ENST00000352909.3_Missense_Mutation_p.R122Q|TH_ENST00000381175.1_Missense_Mutation_p.R149Q|TH_ENST00000333684.5_Missense_Mutation_p.R126Q	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	153					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCCCCAGCTCGCGGCCTCTG	0.632																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(457-459)cGa>cAa		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4336		0,0,2168	11.0	15.0	14.0		365,458,446	-6.1	0.0	11		14	3,8573		0,3,4285	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	43,43,43	0,3,6453	TT,TC,CC		0.035,0.0,0.0232	benign,benign,benign	122/498,153/529,149/525	2189843	3,12909	2168	4288	6456	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2189843C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.458G>A	11.37:g.2189843C>T	ENSP00000370571:p.Arg153Gln		Somatic				TH_ENST00000352909.3_Missense_Mutation_p.R122Q|TH_ENST00000333684.5_Missense_Mutation_p.R126Q|TH_ENST00000381175.1_Missense_Mutation_p.R149Q	p.R153Q	NM_199292.2	NP_954986.2	WXS	Illumina GAIIx	Phase_I	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	4	476	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	153					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.458G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	7.173	0.588032	0.13812	0.0	3.5E-4	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99436	-5.89;-5.89;-5.9;-5.58	3.14	-6.07	0.02158	.	0.746506	0.12041	U	0.505015	D	0.97090	0.9049	L	0.56769	1.78	0.09310	N	1	B;B;B;B;B;B	0.21225	0.002;0.0;0.0;0.005;0.031;0.053	B;B;B;B;B;B	0.12837	0.001;0.0;0.0;0.005;0.004;0.008	D	0.92368	0.5903	10	0.48119	T	0.1	.	0.7261	0.00949	0.2462:0.2791:0.1162:0.3586	.	126;126;122;122;153;149	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	Q	153;149;122;126	ENSP00000370571:R153Q;ENSP00000370567:R149Q;ENSP00000325951:R122Q;ENSP00000328814:R126Q	ENSP00000328814:R126Q	R	-	2	0	TH	2146419	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.197000	0.09518	-0.878000	0.04007	0.313000	0.20887	CGA		0.632	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		7	19	0	0	0	0.278610	0	7	19				
HERC5	51191	broad.mit.edu	37	4	89383504	89383504	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:89383504G>A	ENST00000264350.3	+	4	838	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	229					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGGCCACACTGAGAGTATGGA	0.418																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(685-687)Gag>Aag		HECT and RLD domain containing E3 ubiquitin protein ligase 5							54.0	53.0	54.0					4																	89383504		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89383504G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.685G>A	4.37:g.89383504G>A	ENSP00000264350:p.Glu229Lys		Somatic					p.E229K	NM_016323.3	NP_057407.2	WXS	Illumina GAIIx	Phase_I	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	4	838	+		Hepatocellular(203;0.114)	229					B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.685G>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186256	0.01620	.	.	ENSG00000138646	ENST00000264350	D	0.84944	-1.92	4.48	-5.93	0.02254	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	1.409570	0.04604	N	0.399047	T	0.66107	0.2756	N	0.21142	0.635	0.09310	N	1	B	0.25521	0.128	B	0.21360	0.034	T	0.60811	-0.7189	10	0.05436	T	0.98	.	3.5004	0.07670	0.4459:0.0994:0.354:0.1008	.	229	Q9UII4	HERC5_HUMAN	K	229	ENSP00000264350:E229K	ENSP00000264350:E229K	E	+	1	0	HERC5	89602527	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-1.355000	0.02612	-1.209000	0.02631	-0.145000	0.13849	GAG		0.418	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		12	28	0	0	0	0.411799	0	12	28				
ASL	435	broad.mit.edu	37	7	65557847	65557847	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:65557847T>A	ENST00000304874.9	+	17	1445	c.1343T>A	c.(1342-1344)gTc>gAc	p.V448D	ASL_ENST00000380839.4_Missense_Mutation_p.V422D|ASL_ENST00000395331.3_Missense_Mutation_p.V428D|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395332.3_Missense_Mutation_p.V448D	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	448					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CGCTCCAGCGTCGACTGGCAG	0.677																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1342-1344)gTc>gAc		argininosuccinate lyase	L-Arginine(DB00125)						42.0	42.0	42.0					7																	65557847		2203	4299	6502	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557847T>A		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.1343T>A	7.37:g.65557847T>A	ENSP00000307188:p.Val448Asp		Somatic				ASL_ENST00000395332.3_Missense_Mutation_p.V448D|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.V428D|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.V422D	p.V448D	NM_000048.3	NP_000039.2	WXS	Illumina GAIIx	Phase_I	P04424	ARLY_HUMAN			17	1445	+			448					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1343T>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	t	17.20	3.328534	0.60743	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78	5.53	5.53	0.82687	L-Aspartase-like (1);	0.059384	0.64402	D	0.000002	D	0.99609	0.9858	H	0.97131	3.945	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.70716	0.966;0.956;0.97	D	0.97713	1.0192	10	0.87932	D	0	.	14.8304	0.70142	0.0:0.0:0.0:1.0	.	422;428;448	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	D	448;422;448;428	ENSP00000307188:V448D;ENSP00000370219:V422D;ENSP00000378741:V448D;ENSP00000378740:V428D	ENSP00000307188:V448D	V	+	2	0	ASL	65195282	1.000000	0.71417	0.101000	0.21167	0.109000	0.19521	6.822000	0.75277	2.092000	0.63282	0.459000	0.35465	GTC		0.677	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		14	63	0	0	0	0.457914	0	14	63				
VHL	7428	broad.mit.edu	37	3	10188245	10188245	+	Missense_Mutation	SNP	G	G	T	rs104893830		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:10188245G>T	ENST00000256474.2	+	2	1228	c.388G>T	c.(388-390)Gtt>Ttt	p.V130F	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	130	Involved in binding to CCT complex.		V -> L (in ECYT2 and VHLD; type I). {ECO:0000269|PubMed:12393546, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V130L(9)|p.V130>F(1)|p.V130F(1)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGGGCTTCTGGTTAACCAAAC	0.463		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													ENST00000256474.2		1	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	"""D, Mis, N, F, S"""	von Hippel-Lindau syndrome gene			"""E, M, O"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""		12	Substitution - Missense(10)|Deletion - Frameshift(1)|Complex - compound substitution(1)	p.V130L(9)|p.V130>F(1)|p.V130F(1)|p.H125fs*27(1)	kidney(12)	adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769	GRCh37	CM031394|CM961427	VHL	M	rs104893830	c.(388-390)Gtt>Ttt		von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase							205.0	189.0	195.0					3																	10188245		2203	4300	6503	SO:0001583	missense	7428	von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	g.chr3:10188245G>T	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.388G>T	3.37:g.10188245G>T	ENSP00000256474:p.Val130Phe		Somatic				VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	p.V130F	NM_000551.3	NP_000542.1	WXS	Illumina GAIIx	Phase_I	P40337	VHL_HUMAN		Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)	2	1228	+			130		V -> L (in ECYT2 and VHLD; type I).	Involved in binding to CCT complex.		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	c.388G>T	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964999	0.74131	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99857	-7.22	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96551	0.9408	10	0.87932	D	0	-11.5971	16.3181	0.82935	0.0:0.0:1.0:0.0	.	130	P40337	VHL_HUMAN	F	130;48	ENSP00000256474:V130F	ENSP00000256474:V130F	V	+	1	0	VHL	10163245	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	7.274000	0.78538	2.530000	0.85305	0.563000	0.77884	GTT		0.463	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551		66	166	1	0	3.86002e-21	0.870114	4.7242e-21	66	166				
ZFPM1	161882	broad.mit.edu	37	16	88599110	88599110	+	Silent	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:88599110G>A	ENST00000319555.3	+	8	1357	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	345					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACACGGACACGCTGAGCGGTA	0.692																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(1033-1035)acG>acA		zinc finger protein, FOG family member 1							31.0	30.0	30.0					16																	88599110		2192	4297	6489	SO:0001819	synonymous_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88599110G>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.1035G>A	16.37:g.88599110G>A			Somatic					p.T345T	NM_153813.2	NP_722520.2	WXS	Illumina GAIIx	Phase_I	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	8	1357	+			345						Silent	SNP	ENST00000319555.3	37	c.1035G>A	CCDS32502.1																																																																																				0.692	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			6	16	0	0	0	0.307466	0	6	16				
MUC16	94025	broad.mit.edu	37	19	9062202	9062202	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:9062202G>C	ENST00000397910.4	-	3	25447	c.25244C>G	c.(25243-25245)aCt>aGt	p.T8415S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8417	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAATCCAGAAGTCAGGGAGGA	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(25243-25245)aCt>aGt		mucin 16, cell surface associated							84.0	80.0	82.0					19																	9062202		1992	4174	6166	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062202G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25244C>G	19.37:g.9062202G>C	ENSP00000381008:p.Thr8415Ser		Somatic					p.T8415S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	25447	-			8417			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25244C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.926	-0.017076	0.07681	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	2.61	-2.92	0.05615	.	.	.	.	.	T	0.01523	0.0049	N	0.05124	-0.11	.	.	.	B	0.28713	0.22	B	0.26517	0.07	T	0.44528	-0.9322	8	0.87932	D	0	.	6.5957	0.22672	0.1319:0.5823:0.2858:0.0	.	8415	B5ME49	.	S	8415	ENSP00000381008:T8415S	ENSP00000381008:T8415S	T	-	2	0	MUC16	8923202	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.255000	0.00538	-0.500000	0.06614	-0.742000	0.03525	ACT		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	96	0	0	0	0.681144	0	26	96				
IGLV3-25	28793	broad.mit.edu	37	22	23029638	23029638	+	RNA	SNP	C	C	A	rs374596533		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr22:23029638C>A	ENST00000390305.2	+	0	283									immunoglobulin lambda variable 3-25																		CTGAGCGATTCTCTGGCTCCA	0.522																																						ENST00000390305.2																			0																				77.0	75.0	76.0					22																	23029638		1942	4145	6087			28793							g.chr22:23029638C>A	X97474		22q11.2	2012-02-08			ENSG00000211659	ENSG00000211659		"""Immunoglobulins / IGL locus"""	5908	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151221		22.37:g.23029638C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	283	+									RNA	SNP	ENST00000390305.2	37																																																																																						0.522	IGLV3-25-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321825.1	NG_000002		18	54	1	0	1.67942e-08	0.539581	1.91267e-08	18	54				
ATR	545	broad.mit.edu	37	3	142177892	142177892	+	Missense_Mutation	SNP	G	G	T	rs150286172		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:142177892G>T	ENST00000350721.4	-	44	7532	c.7411C>A	c.(7411-7413)Ctg>Atg	p.L2471M	ATR_ENST00000383101.3_Missense_Mutation_p.L2407M	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2471	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAAGCCCCAGAATATAACCA	0.373								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7411-7413)Ctg>Atg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							82.0	79.0	80.0					3																	142177892		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142177892G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7411C>A	3.37:g.142177892G>T	ENSP00000343741:p.Leu2471Met		Somatic				ATR_ENST00000383101.3_Missense_Mutation_p.L2407M	p.L2471M	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			44	7532	-			2471			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7411C>A	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488579|3.488579	0.64074|0.64074	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.81415|.	-1.49;-1.49|.	4.4|4.4	2.47|2.47	0.30058|0.30058	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.78013|0.78013	0.4217|0.4217	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72625|.	0.978|.	T|T	0.78396|0.78396	-0.2220|-0.2220	10|5	0.66056|.	D|.	0.02|.	-1.3952|-1.3952	9.8307|9.8307	0.40939|0.40939	0.18:0.0:0.82:0.0|0.18:0.0:0.82:0.0	.|.	2471|.	Q13535|.	ATR_HUMAN|.	M|Y	2471;2407|317	ENSP00000343741:L2471M;ENSP00000372581:L2407M|.	ENSP00000343741:L2471M|.	L|S	-|-	1|2	2|0	ATR|ATR	143660582|143660582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	4.907000|4.907000	0.63300|0.63300	0.347000|0.347000	0.23924|0.23924	-0.378000|-0.378000	0.06908|0.06908	CTG|TCT		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		24	79	1	0	1.10923e-09	0.639603	1.31822e-09	24	79				
SLC26A1	10861	broad.mit.edu	37	4	982680	982680	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:982680C>T	ENST00000361661.2	-	4	2424	c.2047G>A	c.(2047-2049)Gcc>Acc	p.A683T	IDUA_ENST00000247933.4_Intron|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.A683T	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	683	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTCTGCACGGCATCGTGCACA	0.682																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(2047-2049)Gcc>Acc		solute carrier family 26 (anion exchanger), member 1							23.0	20.0	21.0					4																	982680		2189	4288	6477	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:982680C>T	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.2047G>A	4.37:g.982680C>T	ENSP00000354721:p.Ala683Thr		Somatic				SLC26A1_ENST00000398516.2_Missense_Mutation_p.A683T|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	p.A683T	NM_213613.2	NP_998778.1	WXS	Illumina GAIIx	Phase_I	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	2424	-			683			STAS.		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.2047G>A	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071749	0.55646	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	T;T	0.81415	-1.49;-1.49	4.13	4.13	0.48395	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91308	0.5072	10	0.87932	D	0	.	13.906	0.63836	0.0:1.0:0.0:0.0	.	683	Q9H2B4	S26A1_HUMAN	T	683	ENSP00000354721:A683T;ENSP00000381528:A683T	ENSP00000354721:A683T	A	-	1	0	SLC26A1	972680	1.000000	0.71417	0.106000	0.21319	0.004000	0.04260	7.257000	0.78362	1.845000	0.53610	0.462000	0.41574	GCC		0.682	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		3	14	0	0	0	0.115264	0	3	14				
WDFY3	23001	broad.mit.edu	37	4	85724573	85724573	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:85724573T>C	ENST00000295888.4	-	16	2884	c.2477A>G	c.(2476-2478)aAt>aGt	p.N826S	WDFY3_ENST00000322366.6_Missense_Mutation_p.N826S|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	826					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCGGCAACATTTTTAGGAGG	0.413																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2476-2478)aAt>aGt		WD repeat and FYVE domain containing 3							96.0	92.0	93.0					4																	85724573		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85724573T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2477A>G	4.37:g.85724573T>C	ENSP00000295888:p.Asn826Ser		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.N826S|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR	p.N826S			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	16	2884	-		Hepatocellular(203;0.114)	826					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.2477A>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	7.844	0.722630	0.15439	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62498	0.02;0.02	5.74	3.27	0.37495	.	0.192721	0.56097	N	0.000037	T	0.39545	0.1082	N	0.19112	0.55	0.42555	D	0.993126	B	0.09022	0.002	B	0.09377	0.004	T	0.23476	-1.0187	10	0.05525	T	0.97	.	10.0658	0.42303	0.0:0.1365:0.0:0.8635	.	826	Q8IZQ1	WDFY3_HUMAN	S	826	ENSP00000318466:N826S;ENSP00000295888:N826S	ENSP00000295888:N826S	N	-	2	0	WDFY3	85943597	0.998000	0.40836	0.862000	0.33874	0.538000	0.34931	2.179000	0.42528	0.432000	0.26286	0.528000	0.53228	AAT		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		4	106	0	0	0	0.184627	0	4	106				
SLC47A1	55244	broad.mit.edu	37	17	19452976	19452976	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:19452976A>T	ENST00000270570.4	+	5	570	c.484A>T	c.(484-486)Att>Ttt	p.I162F	SLC47A1_ENST00000457293.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000436810.2_Missense_Mutation_p.I139F|SLC47A1_ENST00000395585.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000542886.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000575023.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000571335.1_Silent_p.S13S|SLC47A1_ENST00000584348.1_3'UTR	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	162					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CACGATCTTCATTCCAGCTCT	0.458																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(484-486)Att>Ttt		solute carrier family 47 (multidrug and toxin extrusion), member 1							203.0	178.0	186.0					17																	19452976		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19452976A>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.484A>T	17.37:g.19452976A>T	ENSP00000270570:p.Ile162Phe		Somatic				SLC47A1_ENST00000571335.1_Silent_p.S13S|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000575023.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000436810.2_Missense_Mutation_p.I139F|SLC47A1_ENST00000542886.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000457293.1_Missense_Mutation_p.I162F	p.I162F	NM_018242.2	NP_060712.2	WXS	Illumina GAIIx	Phase_I	Q96FL8	S47A1_HUMAN			5	570	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		162					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.484A>T	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.681091	0.68042	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.43	4.34	0.51931	.	0.090793	0.85682	D	0.000000	T	0.59445	0.2194	M	0.90309	3.105	0.49213	D	0.999763	D;D;D;D	0.63046	0.958;0.992;0.979;0.961	P;D;D;D	0.65573	0.875;0.925;0.936;0.914	T	0.66602	-0.5882	10	0.87932	D	0	-14.4387	11.9014	0.52687	0.8542:0.1458:0.0:0.0	.	139;162;162;162	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	F	139;162;162;162;162	ENSP00000407155:I139F;ENSP00000270570:I162F;ENSP00000415586:I162F;ENSP00000440435:I162F;ENSP00000378951:I162F	ENSP00000270570:I162F	I	+	1	0	SLC47A1	19393568	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.386000	0.59620	0.884000	0.36064	0.455000	0.32223	ATT		0.458	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		71	227	0	0	0	0.870114	0	71	227				
DCTN1	1639	broad.mit.edu	37	2	74594532	74594532	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:74594532G>A	ENST00000361874.3	-	19	2517	c.2200C>T	c.(2200-2202)Cac>Tac	p.H734Y	DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409868.1_Missense_Mutation_p.H717Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.H697Y|DCTN1_ENST00000394003.3_Missense_Mutation_p.H727Y|DCTN1_ENST00000409567.3_Missense_Mutation_p.H714Y|DCTN1_ENST00000409438.1_Missense_Mutation_p.H600Y|DCTN1_ENST00000407639.2_Missense_Mutation_p.H600Y	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	734					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCGGCAAGGTGGATGCTGTAC	0.522																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2200-2202)Cac>Tac		dynactin 1							88.0	79.0	83.0					2																	74594532		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74594532G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2200C>T	2.37:g.74594532G>A	ENSP00000354791:p.His734Tyr		Somatic				DCTN1_ENST00000409438.1_Missense_Mutation_p.H600Y|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Missense_Mutation_p.H714Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.H717Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.H697Y|DCTN1_ENST00000407639.2_Missense_Mutation_p.H600Y|DCTN1_ENST00000394003.3_Missense_Mutation_p.H727Y	p.H734Y	NM_004082.4	NP_004073.2	WXS	Illumina GAIIx	Phase_I	Q14203	DCTN1_HUMAN			19	2517	-			734					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.2200C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353364	0.82132	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.96	5.96	0.96718	.	0.000000	0.45361	D	0.000374	D	0.90827	0.7119	M	0.76002	2.32	0.80722	D	1	D;P;D;P;P;D	0.62365	0.957;0.594;0.991;0.616;0.928;0.989	P;P;D;B;P;D	0.74023	0.857;0.504;0.982;0.442;0.671;0.969	D	0.88709	0.3221	10	0.35671	T	0.21	-8.9454	19.1799	0.93619	0.0:0.0:1.0:0.0	.	714;697;734;727;600;600	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	Y	734;727;717;600;600;697;717;714	ENSP00000354791:H734Y;ENSP00000377571:H727Y;ENSP00000384844:H600Y;ENSP00000387270:H600Y;ENSP00000386406:H697Y;ENSP00000387327:H717Y;ENSP00000386843:H714Y	ENSP00000354791:H734Y	H	-	1	0	DCTN1	74448040	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.712000	0.98738	2.833000	0.97629	0.650000	0.86243	CAC		0.522	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		11	30	0	0	0	0.457914	0	11	30				
SLC1A6	6511	broad.mit.edu	37	19	15083538	15083538	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:15083538G>C	ENST00000221742.3	-	1	192	c.185C>G	c.(184-186)aCg>aGg	p.T62R	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T62R|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D66E|SLC1A6_ENST00000598504.1_Missense_Mutation_p.T62R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T62R	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	62					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGCGCTGACCGTCAGCAGAAT	0.627																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(184-186)aCg>aGg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						29.0	29.0	29.0					19																	15083538		2201	4298	6499	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15083538G>C		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.185C>G	19.37:g.15083538G>C	ENSP00000221742:p.Thr62Arg		Somatic				SLC1A6_ENST00000600144.1_Missense_Mutation_p.T62R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T62R|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D66E|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T62R	p.T62R	NM_001272087.1	NP_001259016.1	WXS	Illumina GAIIx	Phase_I	P48664	EAA4_HUMAN			4	1544	-			62					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.185C>G	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.935281|3.935281	0.73442|0.73442	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.74209|0.59906	-0.82|0.23;0.23	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80088|0.80088	0.4559|0.4559	M|M	0.93016|0.93016	3.37|3.37	0.58432|0.58432	D|D	0.999996|0.999996	B|D;D;D	0.23650|0.89917	0.089|1.0;1.0;1.0	B|D;D;D	0.29942|0.91635	0.109|0.999;0.999;0.998	D|D	0.84599|0.84599	0.0671|0.0671	9|10	0.87932|0.87932	D|D	0|0	-25.7488|-25.7488	12.4519|12.4519	0.55681|0.55681	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	66|62;63;62	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	E|R	66|62;62;63	ENSP00000409386:D66E|ENSP00000221742:T62R;ENSP00000446175:T62R	ENSP00000409386:D66E|ENSP00000221742:T62R	D|T	-|-	3|2	2|0	SLC1A6|SLC1A6	14944538|14944538	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.810000|0.810000	0.45777|0.45777	7.717000|7.717000	0.84732|0.84732	2.306000|2.306000	0.77630|0.77630	0.313000|0.313000	0.20887|0.20887	GAC|ACG		0.627	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		3	36	0	0	0	0.115264	0	3	36				
MLKL	197259	broad.mit.edu	37	16	74725180	74725180	+	Silent	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:74725180G>A	ENST00000308807.7	-	4	1180	c.717C>T	c.(715-717)agC>agT	p.S239S	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						cttacgcaatgcTGCCAGCCT	0.428																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(715-717)agC>agT		mixed lineage kinase domain-like							237.0	242.0	241.0					16																	74725180		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74725180G>A	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.717C>T	16.37:g.74725180G>A			Somatic				MLKL_ENST00000306247.7_Intron	p.S239S	NM_152649.2	NP_689862.1	WXS	Illumina GAIIx	Phase_I	Q8NB16	MLKL_HUMAN			4	1180	-			239			Protein kinase.			Silent	SNP	ENST00000308807.7	37	c.717C>T	CCDS32487.1																																																																																				0.428	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		118	315	0	0	0	0.870114	0	118	315				
HIST1H2BI	8346	broad.mit.edu	37	6	26273395	26273395	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:26273395C>T	ENST00000377733.2	+	1	252	c.192C>T	c.(190-192)aaC>aaT	p.N64N	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	64					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GGATTATGAACTCCTTCGTCA	0.567																																						ENST00000377733.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						c.(190-192)aaC>aaT		histone cluster 1, H2bi							186.0	176.0	180.0					6																	26273395		2203	4300	6503	SO:0001819	synonymous_variant	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273395C>T	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.192C>T	6.37:g.26273395C>T			Somatic					p.N64N	NM_003525.2	NP_003516.1	WXS	Illumina GAIIx	Phase_I	P62807	H2B1C_HUMAN			1	252	+			64					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000377733.2	37	c.192C>T	CCDS4603.1																																																																																				0.567	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		11	293	0	0	0	0.387290	0	11	293				
MDC1	9656	broad.mit.edu	37	6	30680150	30680150	+	Silent	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:30680150T>C	ENST00000376406.3	-	5	2216	c.1569A>G	c.(1567-1569)acA>acG	p.T523T	MDC1_ENST00000376405.2_Silent_p.T523T|MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	523	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCTCCACTTGTGTGTTGATGT	0.502								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1567-1569)acA>acG	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							100.0	103.0	102.0					6																	30680150		1510	2709	4219	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680150T>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1569A>G	6.37:g.30680150T>C			Somatic				MDC1_ENST00000376405.2_Silent_p.T523T|MDC1-AS1_ENST00000442150.1_RNA	p.T523T	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			5	2216	-			523			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.1569A>G	CCDS34384.1																																																																																				0.502	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		23	75	0	0	0	0.681144	0	23	75				
CUL9	23113	broad.mit.edu	37	6	43156328	43156328	+	Silent	SNP	G	G	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:43156328G>T	ENST00000252050.4	+	8	2139	c.2055G>T	c.(2053-2055)gtG>gtT	p.V685V	CUL9_ENST00000372647.2_Silent_p.V685V|CUL9_ENST00000354495.3_Silent_p.V575V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	685					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGCGGTCGTGGCCACTGTGC	0.592																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2053-2055)gtG>gtT		cullin 9							64.0	58.0	60.0					6																	43156328		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43156328G>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2055G>T	6.37:g.43156328G>T			Somatic				CUL9_ENST00000372647.2_Silent_p.V685V|CUL9_ENST00000354495.3_Silent_p.V575V	p.V685V	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			8	2139	+			685					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2055G>T	CCDS4890.1																																																																																				0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		14	36	1	0	9.31168e-06	0.435327	1.04597e-05	14	36				
PNO1	56902	broad.mit.edu	37	2	68400546	68400546	+	Silent	SNP	T	T	C	rs146981426		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:68400546T>C	ENST00000263657.2	+	6	779	c.688T>C	c.(688-690)Ttg>Ctg	p.L230L	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	230						nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						CAACCTAATCTTGGGTAATAG	0.373																																					NSCLC(83;642 1410 13044 32832 40058)	ENST00000263657.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(688-690)Ttg>Ctg		partner of NOB1 homolog (S. cerevisiae)		T		0,4406		0,0,2203	134.0	135.0	135.0		688	4.6	1.0	2	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PNO1	NM_020143.2		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		230/253	68400546	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56902					nucleolus	RNA binding	g.chr2:68400546T>C	AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"""RNA binding protein"""		"""KH-type RNA binding protein 1"", ""KH-type RNA-binding protein 1"""	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.688T>C	2.37:g.68400546T>C			Somatic					p.L230L	NM_020143.2	NP_064528.1	WXS	Illumina GAIIx	Phase_I	Q9NRX1	PNO1_HUMAN			6	779	+			230					A8K6Q0|Q53G13|Q8WVB8	Silent	SNP	ENST00000263657.2	37	c.688T>C	CCDS1885.1																																																																																				0.373	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251756.1	NM_020143		31	103	0	0	0	0.796494	0	31	103				
KNTC1	9735	broad.mit.edu	37	12	123054258	123054258	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:123054258A>C	ENST00000333479.7	+	22	1924	c.1747A>C	c.(1747-1749)Atg>Ctg	p.M583L	KNTC1_ENST00000450485.2_Missense_Mutation_p.M546L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	583					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGATGTGAAAATGCTGGAGAG	0.363																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(1747-1749)Atg>Ctg		kinetochore associated 1							113.0	107.0	109.0					12																	123054258		1865	4101	5966	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123054258A>C		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1747A>C	12.37:g.123054258A>C	ENSP00000328236:p.Met583Leu		Somatic				KNTC1_ENST00000450485.2_Missense_Mutation_p.M546L	p.M583L	NM_014708.4	NP_055523.1	WXS	Illumina GAIIx	Phase_I	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	22	1924	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		583					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.1747A>C	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.465352	0.26335	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.20738	2.05;2.62	5.62	5.62	0.85841	.	0.136552	0.64402	D	0.000003	T	0.24812	0.0602	M	0.63428	1.95	0.80722	D	1	P;P	0.39782	0.66;0.688	B;B	0.35607	0.206;0.104	T	0.02991	-1.1085	10	0.49607	T	0.09	-22.0713	16.1172	0.81314	1.0:0.0:0.0:0.0	.	546;583	E7ES84;P50748	.;KNTC1_HUMAN	L	546;583	ENSP00000397992:M546L;ENSP00000328236:M583L	ENSP00000328236:M583L	M	+	1	0	KNTC1	121620211	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.869000	0.63028	2.266000	0.75297	0.533000	0.62120	ATG		0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			30	106	0	0	0	0.729181	0	30	106				
MUSK	4593	broad.mit.edu	37	9	113549999	113549999	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr9:113549999T>A	ENST00000374448.4	+	14	1942	c.1808T>A	c.(1807-1809)tTc>tAc	p.F603Y	MUSK_ENST00000416899.2_Missense_Mutation_p.F595Y|MUSK_ENST00000189978.5_Missense_Mutation_p.F603Y|MUSK_ENST00000374438.1_Missense_Mutation_p.F119Y	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	603	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TATGAACCTTTCACTATGGTG	0.438																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1783-1785)tTc>tAc		muscle, skeletal, receptor tyrosine kinase							82.0	74.0	77.0					9																	113549999		1879	4103	5982	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113549999T>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1808T>A	9.37:g.113549999T>A	ENSP00000363571:p.Phe603Tyr		Somatic				MUSK_ENST00000374448.4_Missense_Mutation_p.F603Y|MUSK_ENST00000374438.1_Missense_Mutation_p.F119Y|MUSK_ENST00000189978.5_Missense_Mutation_p.F603Y	p.F595Y			WXS	Illumina GAIIx	Phase_I	O15146	MUSK_HUMAN			12	1910	+			603			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1784T>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492104	0.44352	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88896	0.81;-2.44	6.08	2.36	0.29203	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.096091	0.64402	N	0.000001	T	0.72692	0.3492	N	0.12443	0.215	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.54662	-0.8260	10	0.16420	T	0.52	.	3.1309	0.06423	0.1549:0.0729:0.1339:0.6382	.	603	O15146	MUSK_HUMAN	Y	609;603;603;517;517;119;601;119	ENSP00000363571:F603Y;ENSP00000363561:F119Y	ENSP00000189978:F609Y	F	+	2	0	MUSK	112589820	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.929000	0.63455	0.144000	0.18951	0.533000	0.62120	TTC		0.438	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				15	44	0	0	0	0.500413	0	15	44				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	23666							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu		Somatic				UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L			WXS	Illumina GAIIx	Phase_I					2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	82	1	0	0.00116845	0.217242	0.00124432	5	82				
RABGAP1	23637	broad.mit.edu	37	9	125746779	125746779	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr9:125746779A>G	ENST00000373647.4	+	3	300	c.166A>G	c.(166-168)Agt>Ggt	p.S56G		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	56					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGGGAATGGAAGTGAACAGCA	0.428																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(166-168)Agt>Ggt		RAB GTPase activating protein 1							59.0	51.0	54.0					9																	125746779		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125746779A>G	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.166A>G	9.37:g.125746779A>G	ENSP00000362751:p.Ser56Gly		Somatic					p.S56G	NM_012197.3	NP_036329.3	WXS	Illumina GAIIx	Phase_I	Q9Y3P9	RBGP1_HUMAN			3	300	+			56					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.166A>G	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775031	0.49786	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000402311	T;T	0.64260	-0.09;-0.09	5.51	5.51	0.81932	.	.	.	.	.	T	0.74680	0.3748	L	0.60455	1.87	0.80722	D	1	P;D	0.56035	0.688;0.974	B;D	0.67725	0.237;0.953	T	0.75317	-0.3360	9	0.48119	T	0.1	-7.6681	14.7982	0.69894	1.0:0.0:0.0:0.0	.	56;56	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	G	56	ENSP00000362751:S56G;ENSP00000384119:S56G	ENSP00000324973:S56G	S	+	1	0	RABGAP1	124786600	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.191000	0.89716	2.083000	0.62718	0.533000	0.62120	AGT		0.428	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		8	26	0	0	0	0.278610	0	8	26				
TTN	7273	broad.mit.edu	37	2	179658188	179658188	+	Silent	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:179658188T>C	ENST00000591111.1	-	9	1703	c.1479A>G	c.(1477-1479)tcA>tcG	p.S493S	TTN_ENST00000342992.6_Silent_p.S493S|TTN_ENST00000360870.5_Silent_p.S493S|TTN_ENST00000460472.2_Silent_p.S493S|TTN_ENST00000342175.6_Silent_p.S493S|TTN_ENST00000589042.1_Silent_p.S493S|TTN_ENST00000359218.5_Silent_p.S493S			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGGTTCTTGATTTTAATT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1477-1479)tcA>tcG		titin							363.0	361.0	362.0					2																	179658188		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179658188T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1479A>G	2.37:g.179658188T>C			Somatic				TTN_ENST00000342992.6_Silent_p.S493S|TTN_ENST00000460472.2_Silent_p.S493S|TTN_ENST00000359218.5_Silent_p.S493S|TTN_ENST00000360870.5_Silent_p.S493S|TTN_ENST00000342175.6_Silent_p.S493S|TTN_ENST00000591111.1_Silent_p.S493S	p.S493S	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		9	1703	-			493					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.1479A>G																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	173	0	0	0	0.870114	0	61	173				
ACAN	176	broad.mit.edu	37	15	89391157	89391157	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:89391157C>T	ENST00000561243.1	+	8	1620	c.1620C>T	c.(1618-1620)agC>agT	p.S540S	ACAN_ENST00000439576.2_Silent_p.S540S|ACAN_ENST00000352105.7_Silent_p.S540S|ACAN_ENST00000559004.1_Silent_p.S540S|ACAN_ENST00000558207.1_Silent_p.S540S			P16112	PGCA_HUMAN	aggrecan	540	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCATTGTGAGCCCCCGGACCC	0.602																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1618-1620)agC>agT		aggrecan							71.0	74.0	73.0					15																	89391157		1959	4151	6110	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391157C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1620C>T	15.37:g.89391157C>T			Somatic				ACAN_ENST00000559004.1_Silent_p.S540S|ACAN_ENST00000352105.7_Silent_p.S540S|ACAN_ENST00000561243.1_Silent_p.S540S|ACAN_ENST00000558207.1_Silent_p.S540S	p.S540S	NM_013227.3	NP_037359.3	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		9	1994	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		540					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.1620C>T	CCDS53970.1																																																																																				0.602	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		22	64	0	0	0	0.608945	0	22	64				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G			Somatic				LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron	p.S598P			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	47	0	0	0	0.184627	0	5	47				
EXOC3L1	283849	broad.mit.edu	37	16	67219061	67219061	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:67219061C>T	ENST00000314586.6	-	11	1967	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	576					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTCCGCACGCGCCAGAAGTC	0.677																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1726-1728)cGc>cAc		exocyst complex component 3-like 1							34.0	42.0	39.0					16																	67219061		2197	4298	6495	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67219061C>T	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1727G>A	16.37:g.67219061C>T	ENSP00000325674:p.Arg576His		Somatic					p.R576H	NM_178516.3	NP_848611.2	WXS	Illumina GAIIx	Phase_I	Q86VI1	EX3L1_HUMAN			11	1967	-			576					A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1727G>A	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.142196	0.21205	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.06849	3.25;3.25	5.6	3.62	0.41486	.	0.285739	0.30869	N	0.008705	T	0.04907	0.0132	N	0.22421	0.69	0.34401	D	0.695326	B;B;B	0.27140	0.14;0.169;0.066	B;B;B	0.17979	0.017;0.02;0.011	T	0.37430	-0.9706	10	0.14252	T	0.57	-7.2002	8.5301	0.33329	0.0:0.8141:0.0:0.1859	.	473;473;576	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	H	576;473;478	ENSP00000325674:R576H;ENSP00000439910:R473H	ENSP00000325008:R478H	R	-	2	0	EXOC3L1	65776562	0.026000	0.19158	0.777000	0.31699	0.744000	0.42396	0.026000	0.13599	0.681000	0.31386	0.563000	0.77884	CGC		0.677	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		17	53	0	0	0	0.500413	0	17	53				
PDZD2	23037	broad.mit.edu	37	5	32098517	32098517	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr5:32098517G>A	ENST00000438447.1	+	23	8383	c.7995G>A	c.(7993-7995)atG>atA	p.M2665I	PDZD2_ENST00000282493.3_Missense_Mutation_p.M2665I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2665	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGGGACTATGAACCGAGGGG	0.547																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(7993-7995)atG>atA		PDZ domain containing 2							79.0	80.0	80.0					5																	32098517		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32098517G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7995G>A	5.37:g.32098517G>A	ENSP00000402033:p.Met2665Ile		Somatic				PDZD2_ENST00000282493.3_Missense_Mutation_p.M2665I	p.M2665I			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			23	8383	+			2665			PDZ 5.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7995G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	2.468	-0.322463	0.05350	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.16073	2.37;2.37	5.06	4.12	0.48240	PDZ/DHR/GLGF (4);	0.701703	0.12941	N	0.426583	T	0.03348	0.0097	N	0.00242	-1.785	0.20873	N	0.999832	B	0.14438	0.01	B	0.14023	0.01	T	0.36768	-0.9734	10	0.06494	T	0.89	.	7.4512	0.27240	0.0:0.2308:0.6052:0.164	.	2665	O15018	PDZD2_HUMAN	I	2665;2466;2665	ENSP00000402033:M2665I;ENSP00000282493:M2665I	ENSP00000282493:M2665I	M	+	3	0	PDZD2	32134274	0.994000	0.37717	0.436000	0.26797	0.955000	0.61496	0.458000	0.21892	2.497000	0.84241	0.563000	0.77884	ATG		0.547	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			17	71	0	0	0	0.539581	0	17	71				
INTS6-AS1	100507398	broad.mit.edu	37	13	52035501	52035501	+	RNA	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr13:52035501G>A	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596050.1_RNA					INTS6 antisense RNA 1																		AAAATAATGTGGCAAGATTAA	0.408																																						ENST00000594959.1																			0																																																			100507398							g.chr13:52035501G>A	AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035501G>A			Somatic				INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000599315.1_RNA				WXS	Illumina GAIIx	Phase_I					0	411	+									RNA	SNP	ENST00000594959.1	37																																																																																						0.408	INTS6-AS1-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462289.1			4	23	0	0	0	0.150653	0	4	23				
PRKCD	5580	broad.mit.edu	37	3	53215262	53215262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:53215262C>T	ENST00000394729.2	+	4	683	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	PRKCD_ENST00000330452.3_Nonsense_Mutation_p.Q119*	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	119					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GATGTCTGTTCAGTATTTCCT	0.622																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(355-357)Cag>Tag		protein kinase C, delta							63.0	58.0	60.0					3																	53215262		2203	4300	6503	SO:0001587	stop_gained	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53215262C>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.355C>T	3.37:g.53215262C>T	ENSP00000378217:p.Gln119*		Somatic				PRKCD_ENST00000330452.3_Nonsense_Mutation_p.Q119*	p.Q119*	NM_212539.1	NP_997704.1	WXS	Illumina GAIIx	Phase_I	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	4	683	+		Ovarian(412;0.0728)	119					B0KZ81|B2R834|Q15144|Q86XJ6	Nonsense_Mutation	SNP	ENST00000394729.2	37	c.355C>T	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	c	17.35	3.367726	0.61513	.	.	ENSG00000163932	ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	18.3981	0.90505	0.0:1.0:0.0:0.0	.	.	.	.	X	119	.	ENSP00000331602:Q119X	Q	+	1	0	PRKCD	53190302	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.775000	0.55349	2.648000	0.89879	0.556000	0.70494	CAG		0.622	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			9	19	0	0	0	0.335167	0	9	19				
CES1	1066	broad.mit.edu	37	16	55855371	55855371	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:55855371C>A	ENST00000361503.4	-	5	729	c.599G>T	c.(598-600)tGg>tTg	p.W200L	CES1_ENST00000422046.2_Missense_Mutation_p.W200L|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.W201L			P23141	EST1_HUMAN	carboxylesterase 1	200					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GTCCTGGACCCAGCGCAGGGC	0.582																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(598-600)tGg>tTg		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						53.0	55.0	54.0					16																	55855371		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55855371C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.599G>T	16.37:g.55855371C>A	ENSP00000355193:p.Trp200Leu		Somatic				CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.W201L|CES1_ENST00000361503.4_Missense_Mutation_p.W200L	p.W200L			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	5	880	-			200					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.599G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.162813	0.78226	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	D;D;D	0.84730	-1.89;-1.89;-1.89	4.18	4.18	0.49190	Carboxylesterase, type B (1);	0.000000	0.56097	D	0.000032	D	0.95912	0.8669	H	0.99689	4.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97538	1.0084	10	0.87932	D	0	.	14.0527	0.64747	0.0:1.0:0.0:0.0	.	200;200;201	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	L	201;200;200;65	ENSP00000353720:W201L;ENSP00000355193:W200L;ENSP00000390492:W200L	ENSP00000353720:W201L	W	-	2	0	CES1	54412872	1.000000	0.71417	0.993000	0.49108	0.708000	0.40852	6.987000	0.76206	1.906000	0.55180	0.456000	0.33151	TGG		0.582	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		10	81	1	0	3.86212e-05	0.361761	4.16702e-05	10	81				
VILL	50853	broad.mit.edu	37	3	38038588	38038588	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:38038588C>T	ENST00000283713.6	+	6	737	c.471C>T	c.(469-471)agC>agT	p.S157S	VILL_ENST00000383759.2_Silent_p.S157S|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	157					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGGAACAGCTTTAATAAGG	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(469-471)agC>agT		villin-like							129.0	121.0	123.0					3																	38038588		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38038588C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.471C>T	3.37:g.38038588C>T			Somatic	OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S157S	p.S157S			WXS	Illumina GAIIx	Phase_I	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	737	+			157					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.471C>T	CCDS2670.2																																																																																				0.542	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		31	64	0	0	0	0.760397	0	31	64				
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	T	G	rs578199349		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:8420609T>G	ENST00000337907.3	-	19	3592	c.2958A>C	c.(2956-2958)ccA>ccC	p.P986P	RERE_ENST00000476556.1_Silent_p.P432P|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.P986P|RERE_ENST00000377464.1_Silent_p.P718P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	986	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P986P(4)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGCAGGGGTGGGGGGTGAG	0.706																																						ENST00000337907.3																			4	Substitution - coding silent(4)	p.P986P(4)	kidney(2)|prostate(1)|lung(1)	central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2956-2958)ccA>ccC		arginine-glutamic acid dipeptide (RE) repeats							11.0	14.0	13.0					1																	8420609		1946	3883	5829	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8420609T>G	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2958A>C	1.37:g.8420609T>G			Somatic				RERE_ENST00000377464.1_Silent_p.P718P|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.P432P|RERE_ENST00000400908.2_Silent_p.P986P	p.P986P	NM_012102.3	NP_036234.3	WXS	Illumina GAIIx	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	3592	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	986			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.2958A>C	CCDS95.1																																																																																				0.706	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			8	26	0	0	0	0.335167	0	8	26				
RNF213	57674	broad.mit.edu	37	17	78350219	78350219	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:78350219G>A	ENST00000582970.1	+	52	13447	c.13304G>A	c.(13303-13305)aGt>aAt	p.S4435N	RNF213_ENST00000336301.6_Missense_Mutation_p.S2508N|RNF213_ENST00000508628.2_Missense_Mutation_p.S4484N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4435					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGGGGCCTAGTGACAGCAAC	0.498																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13303-13305)aGt>aAt		ring finger protein 213							156.0	135.0	142.0					17																	78350219		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78350219G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13304G>A	17.37:g.78350219G>A	ENSP00000464087:p.Ser4435Asn		Somatic				RNF213_ENST00000508628.2_Missense_Mutation_p.S4484N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S2508N	p.S4435N	NM_001256071.1	NP_001243000.1	WXS	Illumina GAIIx	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		52	13447	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13304G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	6.405	0.442910	0.12164	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21734	1.99	5.47	-0.644	0.11479	.	1.984530	0.01759	N	0.030409	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	1	B;B	0.17667	0.011;0.023	B;B	0.12837	0.004;0.008	T	0.19063	-1.0317	10	0.13470	T	0.59	.	5.0629	0.14566	0.3883:0.2851:0.3265:0.0	.	4484;2508	C9JCP4;Q63HN8	.;RN213_HUMAN	N	4435;4484;2508	ENSP00000338218:S2508N	ENSP00000338218:S2508N	S	+	2	0	RNF213	75964814	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.274000	0.18680	0.259000	0.21709	0.561000	0.74099	AGT		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		51	156	0	0	0	0.870114	0	51	156				
SRCAP	10847	broad.mit.edu	37	16	30750345	30750345	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:30750345C>G	ENST00000262518.4	+	34	9369	c.8984C>G	c.(8983-8985)aCt>aGt	p.T2995S	SRCAP_ENST00000344771.4_Missense_Mutation_p.T2837S|SRCAP_ENST00000395059.2_Missense_Mutation_p.T2933S|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2995	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACTGTCACCACTGTCACCATT	0.602																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8983-8985)aCt>aGt		Snf2-related CREBBP activator protein							161.0	121.0	134.0					16																	30750345		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750345C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8984C>G	16.37:g.30750345C>G	ENSP00000262518:p.Thr2995Ser		Somatic				SRCAP_ENST00000344771.4_Missense_Mutation_p.T2837S|SRCAP_ENST00000395059.2_Missense_Mutation_p.T2933S	p.T2995S	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9369	+			2995			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8984C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	c	7.918	0.738043	0.15574	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90788	-2.68;-2.73;-2.72	5.47	3.45	0.39498	.	0.290613	0.24937	N	0.034412	T	0.77837	0.4190	N	0.08118	0	0.21220	N	0.99976	B;B	0.10296	0.003;0.002	B;B	0.15870	0.014;0.006	T	0.59553	-0.7433	10	0.10902	T	0.67	-6.8241	10.8207	0.46604	0.3657:0.6343:0.0:0.0	.	2933;2995	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2995;2933;2837	ENSP00000262518:T2995S;ENSP00000378499:T2933S;ENSP00000343042:T2837S	ENSP00000262518:T2995S	T	+	2	0	SRCAP	30657846	0.900000	0.30661	0.999000	0.59377	0.998000	0.95712	0.545000	0.23268	0.794000	0.33899	0.651000	0.88453	ACT		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		17	58	0	0	0	0.520397	0	17	58				
DNAH9	1770	broad.mit.edu	37	17	11778481	11778481	+	Silent	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:11778481C>A	ENST00000262442.4	+	53	10526	c.10458C>A	c.(10456-10458)gtC>gtA	p.V3486V	DNAH9_ENST00000454412.2_Silent_p.V3486V|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3486	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCTCCGGGTCACGCAGATTG	0.458																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(10456-10458)gtC>gtA		dynein, axonemal, heavy chain 9							75.0	65.0	68.0					17																	11778481		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11778481C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10458C>A	17.37:g.11778481C>A			Somatic				DNAH9_ENST00000454412.2_Silent_p.V3486V|RP11-628O18.1_ENST00000579621.1_RNA	p.V3486V	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	53	10526	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3486			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.10458C>A	CCDS11160.1																																																																																				0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		9	46	1	0	0.00448238	0.307466	0.00471225	9	46				
ESR2	2100	broad.mit.edu	37	14	64716381	64716381	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr14:64716381C>T	ENST00000341099.4	-	7	1525	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	ESR2_ENST00000357782.2_Missense_Mutation_p.V370I|ESR2_ENST00000353772.3_Missense_Mutation_p.V370I|ESR2_ENST00000555278.1_Missense_Mutation_p.V370I|ESR2_ENST00000554572.1_Missense_Mutation_p.V370I|ESR2_ENST00000542956.1_Missense_Mutation_p.V370I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000557772.1_Missense_Mutation_p.V370I|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000358599.5_Missense_Mutation_p.V370I|ESR2_ENST00000553796.1_Missense_Mutation_p.V370I	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	370	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATTCCTTCTACGCATTTCCCC	0.363																																						ENST00000557772.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(1108-1110)Gta>Ata		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						111.0	103.0	105.0					14																	64716381		2203	4300	6503	SO:0001583	missense	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64716381C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1108G>A	14.37:g.64716381C>T	ENSP00000343925:p.Val370Ile		Somatic				ESR2_ENST00000353772.3_Missense_Mutation_p.V370I|ESR2_ENST00000341099.4_Missense_Mutation_p.V370I|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Missense_Mutation_p.V370I|ESR2_ENST00000553796.1_Missense_Mutation_p.V370I|ESR2_ENST00000542956.1_Missense_Mutation_p.V370I|ESR2_ENST00000358599.5_Missense_Mutation_p.V370I|ESR2_ENST00000554572.1_Missense_Mutation_p.V370I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Missense_Mutation_p.V370I	p.V370I	NM_001214903.1	NP_001201832.1	WXS	Illumina GAIIx	Phase_I	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	6	1107	-			370			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.1108G>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070936	0.93950	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099	D;D;D;D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94;-3.94	5.93	5.93	0.95920	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	M	0.77313	2.365	0.80722	D	1	D;B;P;D	0.60575	0.979;0.406;0.742;0.988	D;P;P;D	0.69824	0.949;0.465;0.771;0.966	D	0.97715	1.0193	10	0.66056	D	0.02	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	370;370;370;370	Q92731;Q92731-6;Q92731-5;F1D8N3	ESR2_HUMAN;.;.;.	I	370	ENSP00000452485:V370I;ENSP00000441792:V370I;ENSP00000450699:V370I;ENSP00000335551:V370I;ENSP00000351412:V370I;ENSP00000450488:V370I;ENSP00000452426:V370I;ENSP00000350427:V370I;ENSP00000451582:V370I;ENSP00000343925:V370I	ENSP00000343925:V370I	V	-	1	0	ESR2	63786134	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	7.433000	0.80362	2.805000	0.96524	0.655000	0.94253	GTA		0.363	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			5	101	0	0	0	0.184627	0	5	101				
ANKMY1	51281	broad.mit.edu	37	2	241439472	241439472	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:241439472C>T	ENST00000272972.3	-	14	2656	c.2442G>A	c.(2440-2442)cgG>cgA	p.R814R	ANKMY1_ENST00000403283.1_Silent_p.R716R|ANKMY1_ENST00000401804.1_Silent_p.R903R|ANKMY1_ENST00000391987.1_Silent_p.R814R|ANKMY1_ENST00000361678.4_Silent_p.R590R|ANKMY1_ENST00000373318.2_Silent_p.R593R|ANKMY1_ENST00000406958.1_Silent_p.R575R|ANKMY1_ENST00000373320.4_Silent_p.R584R	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	814							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGAGCCGCTTCCGCGCCAGGA	0.652																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(2440-2442)cgG>cgA		ankyrin repeat and MYND domain containing 1							42.0	38.0	40.0					2																	241439472		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241439472C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2442G>A	2.37:g.241439472C>T			Somatic				ANKMY1_ENST00000401804.1_Silent_p.R903R|ANKMY1_ENST00000373318.2_Silent_p.R593R|ANKMY1_ENST00000373320.4_Silent_p.R584R|ANKMY1_ENST00000361678.4_Silent_p.R590R|ANKMY1_ENST00000272972.3_Silent_p.R814R|ANKMY1_ENST00000406958.1_Silent_p.R575R|ANKMY1_ENST00000403283.1_Silent_p.R716R	p.R814R			WXS	Illumina GAIIx	Phase_I	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	15	2808	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	814					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.2442G>A	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646182	0.29246	.	.	ENSG00000144504	ENST00000407275	.	.	.	2.61	2.61	0.31194	.	.	.	.	.	T	0.57489	0.2057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54689	-0.8256	4	.	.	.	-22.9437	8.8958	0.35463	0.0:1.0:0.0:0.0	.	.	.	.	E	17	.	.	G	-	2	0	ANKMY1	241088145	0.990000	0.36364	0.892000	0.35008	0.025000	0.11179	0.250000	0.18235	1.788000	0.52465	0.479000	0.44913	GGA		0.652	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		4	12	0	0	0	0.217242	0	4	12				
OIP5	11339	broad.mit.edu	37	15	41624695	41624695	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:41624695C>A	ENST00000220514.3	-	1	124	c.65G>T	c.(64-66)gGt>gTt	p.G22V	NUSAP1_ENST00000450592.2_5'Flank|NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000260359.6_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	22					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTCAGTGCCACCACAAAAGTC	0.652																																						ENST00000220514.3																			0				endometrium(3)|lung(1)|urinary_tract(1)	5						c.(64-66)gGt>gTt		Opa interacting protein 5							80.0	94.0	89.0					15																	41624695		2203	4300	6503	SO:0001583	missense	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41624695C>A	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.65G>T	15.37:g.41624695C>A	ENSP00000220514:p.Gly22Val		Somatic					p.G22V	NM_007280.1	NP_009211.1	WXS	Illumina GAIIx	Phase_I	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	124	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	22					Q96BX7	Missense_Mutation	SNP	ENST00000220514.3	37	c.65G>T	CCDS10074.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698628	0.30142	.	.	ENSG00000104147	ENST00000220514	.	.	.	5.35	-1.49	0.08718	.	1.404100	0.04584	N	0.395530	T	0.17195	0.0413	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25710	-1.0124	9	0.72032	D	0.01	-1.3137	1.0371	0.01551	0.1386:0.2419:0.2865:0.333	.	22	O43482	MS18B_HUMAN	V	22	.	ENSP00000220514:G22V	G	-	2	0	OIP5	39411987	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.045000	0.12003	-0.053000	0.13289	-1.235000	0.01560	GGT		0.652	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2	NM_007280		28	79	1	0	8.53417e-09	0.769981	9.99718e-09	28	79				
SPG11	80208	broad.mit.edu	37	15	44876035	44876035	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:44876035A>G	ENST00000261866.7	-	30	5859	c.5843T>C	c.(5842-5844)aTt>aCt	p.I1948T	SPG11_ENST00000427534.2_Missense_Mutation_p.I1948T|SPG11_ENST00000535302.2_Missense_Mutation_p.I1948T|SPG11_ENST00000558319.1_Missense_Mutation_p.I1948T|SPG11_ENST00000558253.1_5'Flank	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1948					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTTAGGGGAATGTCGGGTGC	0.527																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(5842-5844)aTt>aCt		spastic paraplegia 11 (autosomal recessive)							97.0	92.0	94.0					15																	44876035		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876035A>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5843T>C	15.37:g.44876035A>G	ENSP00000261866:p.Ile1948Thr		Somatic				SPG11_ENST00000535302.2_Missense_Mutation_p.I1948T|SPG11_ENST00000558319.1_Missense_Mutation_p.I1948T|SPG11_ENST00000427534.2_Missense_Mutation_p.I1948T	p.I1948T	NM_025137.3	NP_079413.3	WXS	Illumina GAIIx	Phase_I	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	30	5859	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1948					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5843T>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539934	0.27563	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77877	-1.13;-0.88;-0.87	4.57	3.44	0.39384	.	1.524990	0.03466	N	0.212992	T	0.73521	0.3597	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.20261	0.043;0.01;0.007;0.007	B;B;B;B	0.18561	0.021;0.022;0.012;0.012	T	0.51156	-0.8741	10	0.14252	T	0.57	-20.7478	7.1936	0.25839	0.6883:0.0:0.3117:0.0	.	1948;1948;1948;1948	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	T	1948	ENSP00000261866:I1948T;ENSP00000445278:I1948T;ENSP00000396110:I1948T	ENSP00000261866:I1948T	I	-	2	0	SPG11	42663327	0.000000	0.05858	0.004000	0.12327	0.220000	0.24768	-0.226000	0.09139	0.892000	0.36259	0.460000	0.39030	ATT		0.527	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			23	80	0	0	0	0.706142	0	23	80				
CUL7	9820	broad.mit.edu	37	6	43018715	43018715	+	Silent	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:43018715A>G	ENST00000265348.3	-	4	1309	c.1224T>C	c.(1222-1224)ccT>ccC	p.P408P	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Silent_p.P492P			Q14999	CUL7_HUMAN	cullin 7	408	Interaction with TP53.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTGCACAGGAGGCACACCGT	0.597																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1474-1476)ccT>ccC		cullin 7							99.0	92.0	94.0					6																	43018715		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43018715A>G	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1224T>C	6.37:g.43018715A>G			Somatic				CUL7_ENST00000265348.3_Silent_p.P408P	p.P492P	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	WXS	Illumina GAIIx	Phase_I	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	1562	-			408					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.1476T>C	CCDS4881.1																																																																																				0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		20	60	0	0	0	0.624587	0	20	60				
CILP	8483	broad.mit.edu	37	15	65491129	65491129	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:65491129C>A	ENST00000261883.4	-	9	1661	c.1495G>T	c.(1495-1497)Gct>Tct	p.A499S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	499					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCATTGTCAGCAGCACTGACA	0.607																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(1495-1497)Gct>Tct		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							71.0	61.0	65.0					15																	65491129		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65491129C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1495G>T	15.37:g.65491129C>A	ENSP00000261883:p.Ala499Ser		Somatic					p.A499S	NM_003613.3	NP_003604.3	WXS	Illumina GAIIx	Phase_I	O75339	CILP1_HUMAN			9	1661	-			499					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.1495G>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469626	0.43839	.	.	ENSG00000138615	ENST00000261883	T	0.46063	0.88	5.95	4.08	0.47627	.	0.097179	0.64402	D	0.000001	T	0.43100	0.1232	M	0.72894	2.215	0.49915	D	0.999834	B	0.31968	0.349	B	0.33846	0.171	T	0.35895	-0.9770	10	0.49607	T	0.09	-11.6394	10.8089	0.46535	0.1308:0.8017:0.0:0.0675	.	499	O75339	CILP1_HUMAN	S	499	ENSP00000261883:A499S	ENSP00000261883:A499S	A	-	1	0	CILP	63278182	0.998000	0.40836	0.268000	0.24571	0.981000	0.71138	3.992000	0.56980	0.856000	0.35383	0.655000	0.94253	GCT		0.607	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		5	51	1	0	1.23904e-05	0.184627	1.37299e-05	5	51				
MT1H	4496	broad.mit.edu	37	16	56704457	56704457	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:56704457A>G	ENST00000332374.4	+	2	139	c.68A>G	c.(67-69)aAg>aGg	p.K23R	MT1H_ENST00000569155.1_Missense_Mutation_p.K23R|MT1G_ENST00000379811.3_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000568675.1_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	23	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						AAGTGCAAAAAGTGCAAATGC	0.567																																						ENST00000569155.1																			0				lung(5)	5						c.(67-69)aAg>aGg		metallothionein 1H							71.0	69.0	69.0					16																	56704457		2198	4300	6498	SO:0001583	missense	4496						metal ion binding|protein binding	g.chr16:56704457A>G	BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"""Metallothioneins"""	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.68A>G	16.37:g.56704457A>G	ENSP00000330587:p.Lys23Arg		Somatic				MT1H_ENST00000332374.4_Missense_Mutation_p.K23R	p.K23R			WXS	Illumina GAIIx	Phase_I	P80294	MT1H_HUMAN			2	113	+			23			Beta.		B2RUY6	Missense_Mutation	SNP	ENST00000332374.4	37	c.68A>G	CCDS10767.1	.	.	.	.	.	.	.	.	.	.	A	9.747	1.166455	0.21621	.	.	ENSG00000205358	ENST00000332374	T	0.09538	2.97	2.0	0.636	0.17729	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.730351	0.11653	U	0.542628	T	0.07683	0.0193	.	.	.	0.09310	N	0.999997	B	0.14805	0.011	B	0.11329	0.006	T	0.31251	-0.9950	9	0.66056	D	0.02	-1.8467	5.7684	0.18239	0.7304:0.2695:0.0:0.0	.	23	P80294	MT1H_HUMAN	R	23	ENSP00000330587:K23R	ENSP00000330587:K23R	K	+	2	0	MT1H	55261958	0.747000	0.28283	0.989000	0.46669	0.406000	0.30931	1.092000	0.30927	0.925000	0.37094	0.247000	0.18012	AAG		0.567	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257063.1	NM_005951		21	67	0	0	0	0.608945	0	21	67				
COPB2	9276	broad.mit.edu	37	3	139090593	139090593	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:139090593C>T	ENST00000333188.5	-	10	1358	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	COPB2_ENST00000507777.1_Missense_Mutation_p.E364K	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	393					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATGCAAACTCCTGAGCAGAT	0.458																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1177-1179)Gag>Aag		coatomer protein complex, subunit beta 2 (beta prime)							176.0	154.0	161.0					3																	139090593		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139090593C>T	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1177G>A	3.37:g.139090593C>T	ENSP00000329419:p.Glu393Lys		Somatic				COPB2_ENST00000507777.1_Missense_Mutation_p.E364K	p.E393K	NM_004766.2	NP_004757.1	WXS	Illumina GAIIx	Phase_I	P35606	COPB2_HUMAN			10	1358	-			393					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1177G>A	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	36	5.778577	0.96929	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D;D	0.90004	2.31;-2.6;-2.6	5.68	5.68	0.88126	WD40 repeat-like-containing domain (1);Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.95746	0.8616	M	0.93016	3.37	0.80722	D	1	D	0.56521	0.976	D	0.64877	0.93	D	0.95530	0.8602	10	0.49607	T	0.09	-8.6563	19.7834	0.96426	0.0:1.0:0.0:0.0	.	393	P35606	COPB2_HUMAN	K	393;364;16	ENSP00000329419:E393K;ENSP00000422295:E364K;ENSP00000422917:E16K	ENSP00000329419:E393K	E	-	1	0	COPB2	140573283	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.757000	0.85209	2.682000	0.91365	0.561000	0.74099	GAG		0.458	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		25	85	0	0	0	0.681144	0	25	85				
TIE1	7075	broad.mit.edu	37	1	43782949	43782949	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:43782949G>C	ENST00000372476.3	+	15	2568	c.2489G>C	c.(2488-2490)aGc>aCc	p.S830T	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.S475T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	830					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCCCCTGAGCTACCCAGTG	0.602																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2488-2490)aGc>aCc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							76.0	73.0	74.0					1																	43782949		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43782949G>C	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2489G>C	1.37:g.43782949G>C	ENSP00000361554:p.Ser830Thr		Somatic				TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.S475T	p.S830T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	P35590	TIE1_HUMAN			15	2568	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	830					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2489G>C	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	1.458	-0.563146	0.03939	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.75938	-0.94;-0.98	5.1	0.262	0.15597	Protein kinase-like domain (1);	0.314188	0.22777	N	0.055766	T	0.55465	0.1922	L	0.31926	0.97	0.39965	D	0.974719	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.004	T	0.31833	-0.9929	10	0.14656	T	0.56	.	6.7967	0.23729	0.2548:0.1187:0.6265:0.0	.	785;475;830	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	T	830;233;113;475	ENSP00000361554:S830T;ENSP00000411728:S475T	ENSP00000361553:S233T	S	+	2	0	TIE1	43555536	0.916000	0.31088	0.929000	0.37066	0.990000	0.78478	1.237000	0.32695	-0.244000	0.09639	-0.145000	0.13849	AGC		0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		18	66	0	0	0	0.667858	0	18	66				
GP6	51206	broad.mit.edu	37	19	55539166	55539166	+	Silent	SNP	T	T	A	rs115934645	byFrequency	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:55539166T>A	ENST00000417454.1	-	4	417	c.390A>T	c.(388-390)gtA>gtT	p.V130V	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000310373.3_Silent_p.V130V|GP6_ENST00000333884.2_Silent_p.V130V	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	130	Ig-like C2-type 2.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACTGTAGGGTTACGTCCCCTC	0.557													T|||	16	0.00319489	0.0106	0.0029	5008	,	,		18633	0.0		0.0	False		,,,				2504	0.0					ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(388-390)gtA>gtT		glycoprotein VI (platelet)		T	,	34,3932		0,34,1949	112.0	126.0	122.0		390,390	-1.1	0.5	19	dbSNP_132	122	0,8290		0,0,4145	no	coding-synonymous,coding-synonymous	GP6	NM_001083899.1,NM_016363.4	,	0,34,6094	AA,AT,TT		0.0,0.8573,0.2774	,	130/621,130/340	55539166	34,12222	1983	4145	6128	SO:0001819	synonymous_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55539166T>A	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.390A>T	19.37:g.55539166T>A			Somatic				CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Silent_p.V130V|GP6_ENST00000417454.1_Silent_p.V130V|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA	p.V130V	NM_001083899.1	NP_001077368.1	WXS	Illumina GAIIx	Phase_I	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	4	417	-			130			Ig-like C2-type 2.		Q9HCN7|Q9UIF2	Silent	SNP	ENST00000417454.1	37	c.390A>T	CCDS46184.1																																																																																				0.557	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			10	232	0	0	0	0.387290	0	10	232				
COL11A1	1301	broad.mit.edu	37	1	103474038	103474039	+	Frame_Shift_Ins	INS	-	-	T	rs149894788		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:103474038_103474039insT	ENST00000370096.3	-	15	1975_1976	c.1663_1664insA	c.(1663-1665)agtfs	p.S555fs	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Frame_Shift_Ins_p.S567fs|COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.S516fs|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.S439fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	555	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATCACCACTCTCACCTTTG	0.376																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1699-1701)tggfs		collagen, type XI, alpha 1																																				SO:0001589	frameshift_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103474038_103474039insT	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1664dupA	1.37:g.103474039_103474039dupT	ENSP00000359114:p.Ser555fs		Somatic				COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.W516fs|COL11A1_ENST00000370096.3_Frame_Shift_Ins_p.W555fs|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.W439fs	p.W567fs	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	15	2016_2017	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	555			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Ins	INS	ENST00000370096.3	37	c.1699_1700insA	CCDS778.1																																																																																				0.376	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		41	137						41	137	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168115152	168115156	+	Frame_Shift_Del	DEL	ATCAT	ATCAT	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:168115152_168115156delATCAT	ENST00000409728.1	+	11	2284_2288	c.2195_2199delATCAT	c.(2194-2199)aatcatfs	p.NH732fs	XIRP2_ENST00000409605.1_Frame_Shift_Del_p.NH477fs|XIRP2_ENST00000409043.1_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.NH732fs	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGCCAGAAAATCATAAAGAAAATT	0.307																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2194-2199)afs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115152_168115156delATCAT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2195_2199delATCAT	2.37:g.168115152_168115156delATCAT	ENSP00000386619:p.Asn732fs		Somatic				XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Frame_Shift_Del_p.NH477fs|XIRP2_ENST00000409043.1_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.NH732fs|XIRP2_ENST00000409273.1_3'UTR	p.NH732fs	NM_001199143.1	NP_001186072.1	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			11	2284_2288	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Del	DEL	ENST00000409728.1	37	c.2195_2199delATCAT	CCDS56143.1																																																																																				0.307	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		15	76						15	76	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225360644	225360645	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:225360644_225360645insTA	ENST00000264414.4	-	13	2084_2085	c.1746_1747insTA	c.(1744-1749)gtaactfs	p.T583fs	CUL3_ENST00000409096.1_Frame_Shift_Ins_p.T559fs|CUL3_ENST00000409777.1_Frame_Shift_Ins_p.T559fs|CUL3_ENST00000344951.4_Frame_Shift_Ins_p.T517fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	583					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTAGAGCCAGTTACTTGTGCAC	0.332																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(1744-1749)gtctggfs		cullin 3																																				SO:0001589	frameshift_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225360644_225360645insTA	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1745_1746dupTA	2.37:g.225360645_225360646dupTA	ENSP00000264414:p.Thr583fs		Somatic				CUL3_ENST00000409777.1_Frame_Shift_Ins_p.W559fs|CUL3_ENST00000409096.1_Frame_Shift_Ins_p.W559fs|CUL3_ENST00000344951.4_Frame_Shift_Ins_p.W517fs	p.W583fs	NM_003590.4	NP_003581.1	WXS	Illumina GAIIx	Phase_I	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	13	2084_2085	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	583					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Frame_Shift_Ins	INS	ENST00000264414.4	37	c.1746_1747insTA	CCDS2462.1																																																																																				0.332	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			36	164						36	164	---	---	---	---
RP11-6N13.1	0	broad.mit.edu	37	5	103837966	103837969	+	lincRNA	DEL	TCTC	TCTC	-	rs138155987|rs150900715		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr5:103837966_103837969delTCTC	ENST00000503650.1	-	0	328																											ttcttttctttctctctctctctc	0.348																																						ENST00000503650.1																			0																																																			0							g.chr5:103837966_103837969delTCTC																													5.37:g.103837974_103837977delTCTC			Somatic								WXS	Illumina GAIIx	Phase_I					0	328	-									RNA	DEL	ENST00000503650.1	37																																																																																						0.348	RP11-6N13.1-007	PUTATIVE	basic	lincRNA	lincRNA	OTTHUMT00000371852.1			3	3						3	3	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100696355	100696355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:100696355delG	ENST00000306151.4	+	10	13256	c.13192delG	c.(13192-13194)gggfs	p.G4398fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4398					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGTGGGGGCAGGGGTCGTGCT	0.592																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13192-13194)ggfs		mucin 17, cell surface associated							94.0	79.0	84.0					7																	100696355		2203	4300	6503	SO:0001589	frameshift_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696355delG	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13192delG	7.37:g.100696355delG	ENSP00000302716:p.Gly4398fs		Somatic					p.G4398fs	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			10	13256	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4398					O14761|Q685J2|Q8TDH7	Frame_Shift_Del	DEL	ENST00000306151.4	37	c.13192delG	CCDS34711.1																																																																																				0.592	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	69						19	69	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-	rs149220181|rs549861664	byFrequency	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82									T cell receptor beta variable 7-1 (non-functional)																		atgtgtgtgtgAGAGAGAGAGA	0.505																																						ENST00000547918.2																			0																																																			28597							g.chr7:142032162_142032163delGA	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032172_142032173delGA			Somatic								WXS	Illumina GAIIx	Phase_I					0	82	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.505	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		4	8						4	8	---	---	---	---
PLEKHA7	144100	broad.mit.edu	37	11	16822525	16822525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:16822525delA	ENST00000355661.3	-	17	2415	c.2405delT	c.(2404-2406)ttcfs	p.F802fs	PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.F802fs|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.F802fs			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	802					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGTCACCTGGAAAAAAAAGGC	0.443																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2404-2406)tcfs		pleckstrin homology domain containing, family A member 7							234.0	234.0	234.0					11																	16822525		2200	4294	6494	SO:0001589	frameshift_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16822525delA	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2405delT	11.37:g.16822525delA	ENSP00000347883:p.Phe802fs		Somatic				PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.F802fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.F802fs	p.F802fs			WXS	Illumina GAIIx	Phase_I	Q6IQ23	PKHA7_HUMAN			17	2415	-			802					B4DK33|B4DWC3|Q86VZ7	Frame_Shift_Del	DEL	ENST00000355661.3	37	c.2405delT	CCDS31434.1																																																																																				0.443	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		7	251						7	251	---	---	---	---
LOC101928989	101928989	broad.mit.edu	37	11	81642004	81642005	+	lincRNA	DEL	TA	TA	-	rs376335176		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:81642004_81642005delTA	ENST00000500502.1	-	0	940																											cctttgtgtgtatttgtgtgtg	0.327																																						ENST00000500502.1																			0																																																			101928989							g.chr11:81642004_81642005delTA																													11.37:g.81642004_81642005delTA			Somatic								WXS	Illumina GAIIx	Phase_I					0	940	-									RNA	DEL	ENST00000500502.1	37																																																																																						0.327	RP11-179A16.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000391561.2			2	4						2	4	---	---	---	---
LOC100128554	100128554	broad.mit.edu	37	12	126944190	126944191	+	lincRNA	INS	-	-	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:126944190_126944191insA	ENST00000397346.3	+	0	1031																											gaaagagaaagaaagaaagaaa	0.351																																						ENST00000397346.3																			0																																																			0							g.chr12:126944190_126944191insA																													12.37:g.126944193_126944193dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	1031	+									RNA	INS	ENST00000397346.3	37																																																																																						0.351	RP5-944M2.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399847.1			2	4						2	4	---	---	---	---
RP11-208K4.1	0	broad.mit.edu	37	15	48198789	48198790	+	lincRNA	DEL	AC	AC	-	rs148476895|rs543032497		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:48198789_48198790delAC	ENST00000560900.1	+	0	195																											tttcttgcttacacacacacac	0.351																																						ENST00000560900.1																			0																																																			0							g.chr15:48198789_48198790delAC																													15.37:g.48198799_48198800delAC			Somatic								WXS	Illumina GAIIx	Phase_I					0	195	+									RNA	DEL	ENST00000560900.1	37																																																																																						0.351	RP11-208K4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416881.1			3	4						3	4	---	---	---	---
BCL2L10	10017	broad.mit.edu	37	15	52402170	52402170	+	Splice_Site	DEL	C	C	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:52402170delC	ENST00000561198.1	-	2	601	c.560delG	c.(559-561)gga>ga	p.G187fs	BCL2L10_ENST00000260442.3_Splice_Site_p.D164fs			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CAAAAGCCATCCTACAGGGGG	0.453																																						ENST00000260442.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.e2-1		BCL2-like 10 (apoptosis facilitator)							67.0	74.0	72.0					15																	52402170		2195	4293	6488	SO:0001630	splice_region_variant	10017				activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding	g.chr15:52402170delC	AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.560-1G>-	15.37:g.52402170delC			Somatic				BCL2L10_ENST00000561198.1_Splice_Site_p.G187_splice	p.D164_splice	NM_020396.2	NP_065129.1	WXS	Illumina GAIIx	Phase_I	Q9HD36	B2L10_HUMAN		all cancers(107;0.0148)	2	538	-			154					Q3SX80|Q52LQ9|Q8TCS9	Splice_Site	DEL	ENST00000561198.1	37	c.489_splice																																																																																					0.453	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1		Frame_Shift_Del	24	105						24	105	---	---	---	---
UBE2Q2P2	100134869	broad.mit.edu	37	15	83040943	83040944	+	RNA	INS	-	-	T	rs369211335		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:83040943_83040944insT	ENST00000558477.1	+	0	233					NR_004847.2																						GAACAAAAATCTTTTTTTTTTT	0.312																																						ENST00000558477.1																			0																																																			100134869							g.chr15:83040943_83040944insT																													15.37:g.83040954_83040954dupT			Somatic						NR_004847.2		WXS	Illumina GAIIx	Phase_I					0	233	+									RNA	INS	ENST00000558477.1	37																																																																																						0.312	UBE2Q2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419279.1			3	5						3	5	---	---	---	---
RP11-396B14.2	0	broad.mit.edu	37	16	11316747	11316748	+	lincRNA	INS	-	-	AGAAAGAGAG	rs201548833|rs138552076	byFrequency	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:11316747_11316748insAGAAAGAGAG	ENST00000572466.1	+	0	186																		p.0?(1)									caaaaaaagaaagagagagaga	0.465																																						ENST00000572466.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)																																																0							g.chr16:11316747_11316748insAGAAAGAGAG																													16.37:g.11316747_11316748insAGAAAGAGAG			Somatic								WXS	Illumina GAIIx	Phase_I					0	186	+									RNA	INS	ENST00000572466.1	37																																																																																						0.465	RP11-396B14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436705.1			2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11058603	11058603	+	RNA	DEL	G	G	-	rs201542455|rs57429001		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr21:11058603delG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAACCTAAAGATTTTTTTTT	0.269																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058603delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058603delG			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.269	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	3						3	3	---	---	---	---
