#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CSGALNACT2	55454	broad.mit.edu	37	10	43654323	43654323	+	Silent	SNP	C	C	A	rs375714621		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:43654323C>A	ENST00000374466.3	+	3	1157	c.822C>A	c.(820-822)atC>atA	p.I274I	CSGALNACT2_ENST00000374464.1_Silent_p.I274I	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	274					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTATTAATATCATTGTGCCAC	0.378																																						uc001jan.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(820-822)atC>atA		Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	84.0	80.0	81.0		822	4.7	1.0	10		81	0,8600		0,0,4300	no	coding-synonymous	CSGALNACT2	NM_018590.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		274/543	43654323	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43654323C>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.822C>A	10.37:g.43654323C>A						CSGALNACT2_uc001jam.1_Silent_p.I274I	p.I274I	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	1157	+			274					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.822C>A	CCDS7201.1																																																																																				0.378	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		3	57	0	0	0	1	0	3	57				
DCC	1630	broad.mit.edu	37	18	50734133	50734133	+	Missense_Mutation	SNP	C	C	T	rs267605206		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr18:50734133C>T	ENST00000442544.2	+	11	2423	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	DCC_ENST00000581580.1_Missense_Mutation_p.R258C|DCC_ENST00000412726.1_Missense_Mutation_p.R451C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	603	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R603C(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGCTTATAATCGCTATGGTCC	0.353																																						uc002lfe.2																			1	Substitution - Missense(1)	p.R603C(2)	skin(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1807-1809)Cgc>Tgc		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							146.0	150.0	149.0					18																	50734133		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734133C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1807C>T	18.37:g.50734133C>T	ENSP00000389140:p.Arg603Cys					DCC_uc010xdr.1_Missense_Mutation_p.R451C|DCC_uc010dpf.2_Missense_Mutation_p.R258C	p.R603C	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2423	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	603			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1807C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187618	0.38609	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57907	0.37;0.37	5.83	5.83	0.93111	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.80847	2.515	0.58432	D	0.999995	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.944;0.944;0.994	T	0.77384	-0.2608	10	0.72032	D	0.01	.	18.8898	0.92395	0.0:1.0:0.0:0.0	.	451;451;603	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	C	603;536;451	ENSP00000389140:R603C;ENSP00000397322:R451C	ENSP00000304146:R536C	R	+	1	0	DCC	48988131	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.430000	0.52807	2.775000	0.95449	0.650000	0.86243	CGC		0.353	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		39	78	0	0	0	1	0	39	78				
WWC1	23286	broad.mit.edu	37	5	167891808	167891808	+	Silent	SNP	G	G	A	rs372157598		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:167891808G>A	ENST00000265293.4	+	21	3493	c.2991G>A	c.(2989-2991)gcG>gcA	p.A997A	WWC1_ENST00000521089.1_Silent_p.A1003A|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	997	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTGCAGGCGACAAGAACCT	0.612																																						uc011den.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(3007-3009)gcG>gcA		Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 1, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	70.0	68.0	69.0		3009,3009,2991	-10.3	0.2	5		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	1003/1120,1003/1119,997/1114	167891808	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891808G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2991G>A	5.37:g.167891808G>A						WWC1_uc003lzv.3_Silent_p.A1003A|WWC1_uc003lzu.3_Silent_p.A997A|WWC1_uc003lzw.3_Silent_p.A796A|WWC1_uc010jjf.1_Silent_p.A269A	p.A1003A	NM_001161661	NP_001155133	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	20	3102	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	997			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.3009G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	1.028	-0.682876	0.03353	2.27E-4	1.16E-4	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	5.14	-10.3	0.00346	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40440	-0.9563	4	.	.	.	.	2.261	0.04067	0.215:0.3974:0.1253:0.2623	.	.	.	.	N	965;774	.	.	D	+	1	0	WWC1	167824386	0.001000	0.12720	0.239000	0.24122	0.020000	0.10135	-1.951000	0.01529	-1.772000	0.01292	-1.056000	0.02311	GAC		0.612	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		22	41	0	0	0	1	0	22	41				
TCP11L1	55346	broad.mit.edu	37	11	33087532	33087532	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:33087532A>G	ENST00000334274.4	+	8	1529	c.1129A>G	c.(1129-1131)Att>Gtt	p.I377V	TCP11L1_ENST00000432887.1_Missense_Mutation_p.I377V|TCP11L1_ENST00000531632.2_Missense_Mutation_p.I377V|TCP11L1_ENST00000324357.9_Missense_Mutation_p.I156V	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	377						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						GATTGTGAAGATTTTGCTAAC	0.542											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mud.3																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(1129-1131)Att>Gtt		Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.							111.0	114.0	113.0					11																	33087532		2202	4298	6500	SO:0001583	missense	55346							g.chr11:33087532A>G	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.1129A>G	11.37:g.33087532A>G	ENSP00000335595:p.Ile377Val		OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	837	TCP11L1_uc009yju.3_Missense_Mutation_p.I192V|TCP11L1_uc010rei.2_Missense_Mutation_p.I377V|TCP11L1_uc001mue.3_Missense_Mutation_p.I377V|TCP11L1_uc001muf.1_Non-coding_Transcript	p.I377V	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN			7	1529	+			377					D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	c.1129A>G	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	A	4.268	0.048872	0.08243	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.68	0.538	0.17150	.	0.414587	0.26499	N	0.024040	T	0.02848	0.0085	N	0.03281	-0.365	0.28438	N	0.916945	B	0.06786	0.001	B	0.08055	0.003	T	0.42799	-0.9430	10	0.05620	T	0.96	-50.6503	4.091	0.09970	0.2787:0.0:0.507:0.2143	.	377	Q9NUJ3	T11L1_HUMAN	V	377;377;377;156	ENSP00000335595:I377V;ENSP00000433067:I377V;ENSP00000395070:I377V;ENSP00000316279:I156V	ENSP00000316279:I156V	I	+	1	0	TCP11L1	33044108	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	2.366000	0.44204	0.086000	0.17137	0.459000	0.35465	ATT		0.542	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		45	143	0	0	0	1	0	45	143				
F2RL1	2150	broad.mit.edu	37	5	76128981	76128981	+	Silent	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr5:76128981C>T	ENST00000296677.4	+	2	755	c.549C>T	c.(547-549)caC>caT	p.H183H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	183					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CCATGGGGCACTCCAGGAAGA	0.488																																						uc003keo.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(547-549)caC>caT		Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.							211.0	191.0	198.0					5																	76128981		2203	4300	6503	SO:0001819	synonymous_variant	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76128981C>T	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.549C>T	5.37:g.76128981C>T							p.H183H	NM_005242	NP_005233	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	1	724	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	183					Q13317|Q13346|Q53XJ8	Silent	SNP	ENST00000296677.4	37	c.549C>T	CCDS4033.1																																																																																				0.488	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			7	141	0	0	0	1	0	7	141				
PGAP3	93210	broad.mit.edu	37	17	37842227	37842227	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:37842227G>A	ENST00000300658.4	-	2	319	c.227C>T	c.(226-228)aCc>aTc	p.T76I	ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000429199.2_Missense_Mutation_p.T76I|PGAP3_ENST00000579146.1_Missense_Mutation_p.T76I|PGAP3_ENST00000378011.4_Missense_Mutation_p.T76I|ERBB2_ENST00000584601.1_5'Flank|ERBB2_ENST00000406381.2_5'Flank	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	76					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGCCCAACGGTGACCCACAT	0.537																																						uc002hsj.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(226-228)aCc>aTc		Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.							160.0	104.0	123.0					17																	37842227		2203	4300	6503	SO:0001583	missense	93210				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	g.chr17:37842227G>A	AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"""post-GPI attachment to proteins 3"""	611801	"""per1-like domain containing 1"""	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.227C>T	17.37:g.37842227G>A	ENSP00000300658:p.Thr76Ile					ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010cvy.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.T76I|PGAP3_uc002hsk.3_Missense_Mutation_p.T76I|PGAP3_uc010cvz.3_Missense_Mutation_p.T76I|ERBB2_uc002hsl.3_5'Flank	p.T76I	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN			1	270	-			76					B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	ENST00000300658.4	37	c.227C>T	CCDS32641.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947603	0.92593	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.41356	1.27	0.80722	D	1	B;P;D;D	0.53151	0.406;0.883;0.958;0.958	B;P;P;P	0.62491	0.393;0.903;0.743;0.745	T	0.56444	-0.7978	9	0.11182	T	0.66	-23.7715	17.5327	0.87819	0.0:0.0:1.0:0.0	.	76;20;76;76	B4DGK7;B4DVJ3;Q96FM1-2;Q96FM1	.;.;.;PGAP3_HUMAN	I	76;76;20;76	.	ENSP00000300658:T76I	T	-	2	0	PGAP3	35095753	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	8.533000	0.90617	2.440000	0.82611	0.561000	0.74099	ACC		0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444825.2	NM_033419		3	57	0	0	0	1	0	3	57				
GPN1	11321	broad.mit.edu	37	2	27861816	27861816	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:27861816C>A	ENST00000610189.1	+	9	642	c.635C>A	c.(634-636)gCc>gAc	p.A212D	GPN1_ENST00000407583.3_Missense_Mutation_p.A200D|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.A133D|GPN1_ENST00000458167.2_Missense_Mutation_p.A117D|GPN1_ENST00000424214.1_Missense_Mutation_p.A133D|GPN1_ENST00000503738.1_Missense_Mutation_p.A117D|GPN1_ENST00000264718.3_Missense_Mutation_p.A226D	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						TTCCAAGATGCCTTGAATCAA	0.443																																						uc010ymc.2																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.(676-678)gCc>gAc		Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.							116.0	103.0	108.0					2																	27861816		2203	4300	6503	SO:0001583	missense	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861816C>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.635C>A	2.37:g.27861816C>A	ENSP00000476446:p.Ala212Asp					GPN1_uc010ezf.3_Missense_Mutation_p.A200D|GPN1_uc010yma.2_Missense_Mutation_p.A133D|GPN1_uc010ymb.2_Missense_Mutation_p.A117D|GPN1_uc010ymd.2_Missense_Mutation_p.A107D|GPN1_uc010ezg.1_Missense_Mutation_p.A107D	p.A226D	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN			8	698	+			212						Missense_Mutation	SNP	ENST00000610189.1	37	c.677C>A		.	.	.	.	.	.	.	.	.	.	C	35	5.502546	0.96371	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	M	0.74647	2.275	0.80722	D	1	P;D;P;D	0.89917	0.707;1.0;0.943;0.999	P;D;P;D	0.79784	0.838;0.993;0.733;0.993	T	0.40997	-0.9533	10	0.59425	D	0.04	-2.0114	16.8827	0.86067	0.0:1.0:0.0:0.0	.	212;226;117;200	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	D	133;117;117;133;200;226	ENSP00000424678:A133D;ENSP00000427269:A117D;ENSP00000412170:A117D;ENSP00000398115:A133D;ENSP00000384255:A200D;ENSP00000264718:A226D	ENSP00000264718:A226D	A	+	2	0	GPN1	27715320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.175000	0.77632	2.773000	0.95371	0.655000	0.94253	GCC		0.443	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		5	67	0	0	0	1	0	5	67				
EPHA6	285220	broad.mit.edu	37	3	97202876	97202876	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:97202876A>T	ENST00000514100.1	+	7	591	c.349A>T	c.(349-351)Att>Ttt	p.I117F	EPHA6_ENST00000442602.2_Missense_Mutation_p.I91F|EPHA6_ENST00000389672.5_Missense_Mutation_p.I725F|EPHA6_ENST00000502694.1_Missense_Mutation_p.I117F	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	631	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCCTCAAGAATTCGTATTGA	0.378																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(2173-2175)Att>Ttt		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							96.0	98.0	97.0					3																	97202876		1860	4110	5970	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97202876A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.349A>T	3.37:g.97202876A>T	ENSP00000421711:p.Ile117Phe					EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.I91F|EPHA6_uc003drs.4_Missense_Mutation_p.I117F|EPHA6_uc003drr.4_Missense_Mutation_p.I117F|EPHA6_uc003drt.3_Missense_Mutation_p.I117F|EPHA6_uc010hox.1_Non-coding_Transcript	p.I725F	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			9	2216	+			630			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2173A>T		.	.	.	.	.	.	.	.	.	.	A	25.3	4.628588	0.87560	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;D	0.87179	0.45;1.21;1.21;-2.22	5.42	5.42	0.78866	Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.91486	0.7312	L	0.49699	1.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.92428	0.5951	9	0.87932	D	0	.	15.5233	0.75881	1.0:0.0:0.0:0.0	.	91;630;117;117	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	F	725;117;117;91	ENSP00000374323:I725F;ENSP00000421711:I117F;ENSP00000423950:I117F;ENSP00000403100:I91F	ENSP00000374323:I725F	I	+	1	0	EPHA6	98685566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.958000	0.93099	2.071000	0.62044	0.454000	0.30748	ATT		0.378	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		10	17	0	0	0	1	0	10	17				
TTN	7273	broad.mit.edu	37	2	179399157	179399157	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:179399157A>G	ENST00000591111.1	-	308	97486	c.97262T>C	c.(97261-97263)aTg>aCg	p.M32421T	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M24997T|TTN_ENST00000342175.6_Missense_Mutation_p.M25189T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M31494T|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M25122T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M34062T			Q8WZ42	TITIN_HUMAN	titin	32421	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CGATGCTGTCATGCGAGATTT	0.418																																						uc021vsy.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.(94480-94482)aTg>aCg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							131.0	131.0	131.0					2																	179399157		1938	4128	6066	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399157A>G	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.97262T>C	2.37:g.179399157A>G	ENSP00000465570:p.Met32421Thr					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M25189T|TTN_uc021vta.1_Missense_Mutation_p.M25122T|TTN_uc021vtb.1_Missense_Mutation_p.M24997T	p.M31494T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	94706	-			32421			Ig-like 140.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.94481T>C		.	.	.	.	.	.	.	.	.	.	A	14.43	2.532817	0.45073	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.62925	0.2468	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.65446	-0.6166	9	0.87932	D	0	.	15.5246	0.75894	1.0:0.0:0.0:0.0	.	24997;25122;25189;32421	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	31494;24997;25189;25122;24994	ENSP00000343764:M31494T;ENSP00000434586:M24997T;ENSP00000340554:M25189T;ENSP00000352154:M25122T	ENSP00000340554:M25189T	M	-	2	0	TTN	179107403	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.309000	0.96252	2.304000	0.77564	0.528000	0.53228	ATG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	67	0	0	0	1	0	43	67				
RBM15	64783	broad.mit.edu	37	1	110882663	110882663	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:110882663C>G	ENST00000369784.3	+	1	1536	c.636C>G	c.(634-636)agC>agG	p.S212R	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.S212R|RBM15_ENST00000487146.2_Missense_Mutation_p.S212R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	212	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTTCTGGCAGCGGGGATGAGC	0.602			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001dzl.1				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(634-636)agC>agG		Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.							62.0	64.0	63.0					1																	110882663		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding	g.chr1:110882663C>G	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.636C>G	1.37:g.110882663C>G	ENSP00000358799:p.Ser212Arg		OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1430	RBM15_uc001dzm.1_Missense_Mutation_p.S212R|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.S212R	p.S212R	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	0	719	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	212			RRM 1.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.636C>G	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403869	0.42613	.	.	ENSG00000162775	ENST00000369784	T	0.17370	2.28	4.35	4.35	0.52113	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.320649	0.23517	N	0.047333	T	0.05868	0.0153	N	0.08118	0	0.37411	D	0.913259	P;P	0.48503	0.736;0.911	P;P	0.46172	0.453;0.506	T	0.12016	-1.0564	10	0.56958	D	0.05	-10.1302	10.3684	0.44038	0.0:0.9063:0.0:0.0937	.	212;212	Q96T37-3;Q96T37	.;RBM15_HUMAN	R	212	ENSP00000358799:S212R	ENSP00000358799:S212R	S	+	3	2	RBM15	110684186	0.885000	0.30320	1.000000	0.80357	0.999000	0.98932	-0.102000	0.10956	2.706000	0.92434	0.655000	0.94253	AGC		0.602	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		37	38	0	0	0	1	0	37	38				
KRTAP3-3	85293	broad.mit.edu	37	17	39150166	39150166	+	Missense_Mutation	SNP	C	C	T	rs146610892	byFrequency	TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr17:39150166C>T	ENST00000391586.1	-	1	219	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	62						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V62M(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632													C|||	7	0.00139776	0.0053	0.0	5008	,	,		18411	0.0		0.0	False		,,,				2504	0.0					uc002hvr.1																			1	Substitution - Missense(1)	p.V62M(2)|p.C61C(1)	prostate(1)	lung(2)|prostate(2)	4						c.(184-186)Gtg>Atg		Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.		C	MET/VAL	25,4381	31.7+/-61.6	0,25,2178	107.0	78.0	88.0		184	5.9	1.0	17	dbSNP_134	88	2,8586	2.2+/-6.3	0,2,4292	no	missense	KRTAP3-3	NM_033185.2	21	0,27,6470	TT,TC,CC		0.0233,0.5674,0.2078	probably-damaging	62/99	39150166	27,12967	2203	4294	6497	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150166C>T	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"""Keratin associated proteins"""	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.184G>A	17.37:g.39150166C>T	ENSP00000375428:p.Val62Met						p.V62M	NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN			0	220	-		Breast(137;0.00043)	62					Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.184G>A	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233534	0.79688	0.005674	2.33E-4	ENSG00000212899	ENST00000391586	T	0.32515	1.45	5.89	5.89	0.94794	.	0.000000	0.51477	D	0.000090	T	0.49864	0.1582	.	.	.	0.39246	D	0.963944	D	0.89917	1.0	D	0.91635	0.999	T	0.60156	-0.7318	9	0.87932	D	0	.	15.8129	0.78578	0.0:1.0:0.0:0.0	.	62	Q9BYR6	KRA33_HUMAN	M	62	ENSP00000375428:V62M	ENSP00000375428:V62M	V	-	1	0	KRTAP3-3	36403692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.511000	0.53400	2.801000	0.96364	0.650000	0.86243	GTG		0.632	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			41	46	0	0	0	1	0	41	46				
PRSS57	400668	broad.mit.edu	37	19	687034	687034	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr19:687034T>C	ENST00000329267.7	-	4	565	c.536A>G	c.(535-537)aAg>aGg	p.K179R		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						CACTCGGACCTTGGCCTCCAT	0.672																																						uc002lpl.1																			0				central_nervous_system(1)|lung(5)	6						c.(535-537)aAg>aGg		Homo sapiens protease, serine, 57 (PRSS57), mRNA.							49.0	46.0	47.0					19																	687034		2203	4300	6503	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:687034T>C	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.536A>G	19.37:g.687034T>C	ENSP00000327386:p.Lys179Arg					PRSS57_uc010xfs.1_Missense_Mutation_p.K178R	p.K179R	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN			3	567	-			179			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.536A>G	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	T	8.879	0.951256	0.18431	.	.	ENSG00000185198	ENST00000329267	D	0.88664	-2.41	4.72	3.7	0.42460	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.369009	0.19652	N	0.109185	T	0.79924	0.4530	N	0.20357	0.565	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.16289	0.015;0.015	T	0.69580	-0.5107	10	0.56958	D	0.05	.	9.0473	0.36354	0.0:0.0879:0.0:0.9121	.	178;179	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	R	179	ENSP00000327386:K179R	ENSP00000327386:K179R	K	-	2	0	PRSS57	638034	0.003000	0.15002	0.266000	0.24541	0.108000	0.19459	0.757000	0.26433	0.685000	0.31468	0.379000	0.24179	AAG		0.672	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		9	29	0	0	0	1	0	9	29				
CASP5	838	broad.mit.edu	37	11	104879560	104879560	+	Missense_Mutation	SNP	G	G	A	rs201179331		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:104879560G>A	ENST00000260315.3	-	2	154	c.155C>T	c.(154-156)aCg>aTg	p.T52M	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.T19M|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.T65M|CASP5_ENST00000526056.1_Missense_Mutation_p.T65M			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	52					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTTTTGATCCGTATTAGGTAC	0.373																																						uc010ruz.1																			0		p.H65Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(193-195)aCg>aTg		Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.							133.0	121.0	125.0					11																	104879560		2201	4298	6499	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879560G>A		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.155C>T	11.37:g.104879560G>A	ENSP00000260315:p.Thr52Met					CASP5_uc010rva.1_Missense_Mutation_p.T52M|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.T65M	NM_001136112	NP_001129584	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	1	226	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	52			CARD.		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.194C>T	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	5.906	0.351283	0.11182	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.27890	4.64;1.64;4.66;4.64;2.7	1.45	-2.9	0.05648	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	1	B;B	0.20780	0.028;0.048	B;B	0.09377	0.002;0.004	T	0.17379	-1.0371	9	0.66056	D	0.02	.	2.3436	0.04266	0.3508:0.0:0.3954:0.2537	.	52;65	P51878;P51878-5	CASP5_HUMAN;.	M	65;19;52;65;36	ENSP00000376849:T65M;ENSP00000376847:T19M;ENSP00000260315:T52M;ENSP00000436877:T65M;ENSP00000415241:T36M	ENSP00000260315:T52M	T	-	2	0	CASP5	104384770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.537000	0.02206	-1.032000	0.03304	-0.300000	0.09419	ACG		0.373	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		6	66	0	0	0	1	0	6	66				
PTCHD4	442213	broad.mit.edu	37	6	48036187	48036187	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:48036187C>A	ENST00000339488.4	-	1	238	c.205G>T	c.(205-207)Gac>Tac	p.D69Y	PTCHD4_ENST00000543600.1_Missense_Mutation_p.D52Y	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	69						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CGCTCCAGGTCGCCCTCGGGC	0.652																																						uc011dwm.2																			0											c.(205-207)Gac>Tac		Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.							31.0	36.0	34.0					6																	48036187		1980	4162	6142	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036187C>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.205G>T	6.37:g.48036187C>A	ENSP00000341914:p.Asp69Tyr					PTCHD4_uc011dwn.2_Intron|PTCHD4_uc003ozf.2_Missense_Mutation_p.D69Y	p.D69Y	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			0	239	-			69					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.205G>T	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.10|15.10	2.733386|2.733386	0.48939|0.48939	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;T|.	0.95171|.	-3.63;0.17|.	4.56|4.56	3.66|3.66	0.41972|0.41972	.|.	0.194425|.	0.42682|.	D|.	0.000669|.	T|T	0.60637|0.60637	0.2284|0.2284	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.996|.	T|T	0.61778|0.61778	-0.6993|-0.6993	10|5	0.87932|.	D|.	0|.	.|.	14.3095|14.3095	0.66407|0.66407	0.0:0.85:0.15:0.0|0.0:0.85:0.15:0.0	.|.	69;52|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	Y|L	69;52|68	ENSP00000341914:D69Y;ENSP00000439864:D52Y|.	ENSP00000341914:D69Y|.	D|R	-|-	1|2	0|0	C6orf138|C6orf138	48144146|48144146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	4.578000|4.578000	0.60929|0.60929	0.855000|0.855000	0.35359|0.35359	0.545000|0.545000	0.68477|0.68477	GAC|CGA		0.652	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		3	37	0	0	0	1	0	3	37				
COL5A1	1289	broad.mit.edu	37	9	137655578	137655578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:137655578G>T	ENST00000371817.3	+	20	2443	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	677	Triple-helical region.			E -> K (in Ref. 1; BAA14323). {ECO:0000305}.|E -> Q (in Ref. 4; AA sequence). {ECO:0000305}.	axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCTGCCTGGGGAGCCCGTAAG	0.592																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2029-2031)Gag>Tag		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							81.0	81.0	81.0					9																	137655578		2203	4300	6503	SO:0001587	stop_gained	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137655578G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2029G>T	9.37:g.137655578G>T	ENSP00000360882:p.Glu677*						p.E677*	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	19	2411	+		Myeloproliferative disorder(178;0.0341)	677	E -> K (in Ref. 1; BAA14323).|E -> Q (in Ref. 4; AA sequence).		Triple-helical region.		Q15094|Q5SUX4	Nonsense_Mutation	SNP	ENST00000371817.3	37	c.2029G>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	43	9.907908	0.99293	.	.	ENSG00000130635	ENST00000371817	.	.	.	3.9	3.9	0.45041	.	0.187884	0.39687	U	0.001287	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7621	0.62973	0.0:0.0:1.0:0.0	.	.	.	.	X	677	.	ENSP00000360882:E677X	E	+	1	0	COL5A1	136795399	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.015000	0.76387	1.904000	0.55121	0.462000	0.41574	GAG		0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	81	0	0	0	1	0	4	81				
PRKAR2A	5576	broad.mit.edu	37	3	48789079	48789079	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr3:48789079T>C	ENST00000265563.8	-	11	1403	c.1154A>G	c.(1153-1155)tAt>tGt	p.Y385C	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.Y363C|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.Y385C	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	385					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		CTGTTCCTCATAGTGTGAGAT	0.512																																						uc010hki.1																		SLC26A6/PRKAR2A(2)	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6						c.(1153-1155)tAt>tGt		Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, alpha (PRKAR2A), mRNA.							91.0	78.0	83.0					3																	48789079		2203	4300	6503	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48789079T>C		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.1154A>G	3.37:g.48789079T>C	ENSP00000265563:p.Tyr385Cys					PRKAR2A_uc003cux.1_Missense_Mutation_p.Y385C|PRKAR2A_uc003cuy.1_Missense_Mutation_p.Y363C	p.Y385C	NM_004157	NP_004148	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	10	1395	-			385					Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.1154A>G	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539716	0.85917	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446	T;T;T	0.43688	0.94;0.94;0.94	6.17	6.17	0.99709	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.82506	-0.0423	10	0.87932	D	0	-0.0867	16.8222	0.85835	0.0:0.0:0.0:1.0	.	363;385	Q9BUB1;P13861	.;KAP2_HUMAN	C	385;385;363	ENSP00000265563:Y385C;ENSP00000394041:Y385C;ENSP00000296446:Y363C	ENSP00000265563:Y385C	Y	-	2	0	PRKAR2A	48764083	1.000000	0.71417	0.938000	0.37757	0.994000	0.84299	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TAT		0.512	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			11	20	0	0	0	1	0	11	20				
ST6GALNAC6	30815	broad.mit.edu	37	9	130658585	130658585	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr9:130658585C>T	ENST00000373146.1	-	3	232	c.53G>A	c.(52-54)gGg>gAg	p.G18E	ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.G18E|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.G18E|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000542456.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	18					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCAGGTGGCCCTGGGGGCAG	0.552																																						uc004bsp.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(52-54)gGg>gAg		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.							141.0	137.0	138.0					9																	130658585		2203	4300	6503	SO:0001583	missense	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130658585C>T	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.53G>A	9.37:g.130658585C>T	ENSP00000362239:p.Gly18Glu					ST6GALNAC6_uc004bsn.1_5'UTR|ST6GALNAC6_uc011man.1_5'UTR|ST6GALNAC6_uc004bso.1_Missense_Mutation_p.G18E|ST6GALNAC6_uc004bsq.1_5'UTR|ST6GALNAC6_uc004bsr.2_5'UTR|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript	p.G18E			Q969X2	SIA7F_HUMAN			2	172	-			18					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	ENST00000373146.1	37	c.53G>A	CCDS6882.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905601	0.33628	.	.	ENSG00000160408	ENST00000373146;ENST00000373142;ENST00000291839	T;T;T	0.56444	1.01;0.46;1.01	3.63	2.73	0.32206	.	0.148155	0.28057	N	0.016762	T	0.35038	0.0918	N	0.19112	0.55	0.27701	N	0.945774	P	0.36683	0.565	B	0.38225	0.268	T	0.20739	-1.0266	10	0.51188	T	0.08	-18.7194	7.0273	0.24946	0.0:0.8705:0.0:0.1295	.	18	Q969X2	SIA7F_HUMAN	E	18	ENSP00000362239:G18E;ENSP00000362235:G18E;ENSP00000291839:G18E	ENSP00000291839:G18E	G	-	2	0	ST6GALNAC6	129698406	0.999000	0.42202	0.871000	0.34182	0.029000	0.11900	1.935000	0.40173	0.859000	0.35456	-0.136000	0.14681	GGG		0.552	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		42	67	0	0	0	1	0	42	67				
GRM4	2914	broad.mit.edu	37	6	34059809	34059809	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:34059809G>A	ENST00000538487.2	-	3	1030	c.587C>T	c.(586-588)tCc>tTc	p.S196F	GRM4_ENST00000455714.2_Missense_Mutation_p.S56F|GRM4_ENST00000609222.1_Missense_Mutation_p.S63F|GRM4_ENST00000374181.4_Missense_Mutation_p.S196F|GRM4_ENST00000374177.3_Missense_Mutation_p.S127F|GRM4_ENST00000535756.1_Missense_Mutation_p.S63F|GRM4_ENST00000544773.2_Missense_Mutation_p.S27F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	196					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACCACGCGGGAGAAGAAGTC	0.642																																						uc003oir.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(586-588)tCc>tTc		Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	L-Glutamic Acid(DB00142)						115.0	87.0	96.0					6																	34059809		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34059809G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.587C>T	6.37:g.34059809G>A	ENSP00000440556:p.Ser196Phe					GRM4_uc011dsn.2_Missense_Mutation_p.S196F|GRM4_uc010jvh.3_Missense_Mutation_p.S196F|GRM4_uc010jvi.3_Intron|GRM4_uc010jvk.1_Missense_Mutation_p.S115F|GRM4_uc011dsl.2_Missense_Mutation_p.S56F|GRM4_uc003oiq.3_Missense_Mutation_p.S63F|GRM4_uc011dsm.2_Missense_Mutation_p.S27F	p.S196F	NM_000841	NP_000832	Q14833	GRM4_HUMAN			1	950	-			196					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.587C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472697	0.84640	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	3.83	3.83	0.44106	Extracellular ligand-binding receptor (1);	0.000000	0.64402	U	0.000001	T	0.79828	0.4513	L	0.44542	1.39	0.80722	D	1	B;B;D;D;D;P	0.76494	0.041;0.262;0.999;0.997;0.997;0.54	B;B;D;D;D;B	0.83275	0.055;0.108;0.995;0.996;0.996;0.292	T	0.78558	-0.2158	10	0.05436	T	0.98	.	15.882	0.79211	0.0:0.0:1.0:0.0	.	196;27;56;196;196;63	B7ZLU9;B7Z1T9;F5GXM5;A1L4F9;Q14833;B3KVL9	.;.;.;.;GRM4_HUMAN;.	F	196;127;63;27;196;56	ENSP00000363296:S196F;ENSP00000363292:S127F;ENSP00000437925:S63F;ENSP00000437730:S27F;ENSP00000440556:S196F;ENSP00000398456:S56F	ENSP00000363292:S127F	S	-	2	0	GRM4	34167787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.652000	0.98499	1.961000	0.56991	0.561000	0.74099	TCC		0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			21	73	0	0	0	1	0	21	73				
MUC17	140453	broad.mit.edu	37	7	100685167	100685167	+	Silent	SNP	C	C	T			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr7:100685167C>T	ENST00000306151.4	+	3	10534	c.10470C>T	c.(10468-10470)acC>acT	p.T3490T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3490	59 X approximate tandem repeats.|Ser-rich.				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)					CACCTGTGACCACTTCTTCTC	0.488																																						uc003uxp.1																			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.(10468-10470)acC>acT		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							227.0	241.0	236.0					7																	100685167		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685167C>T	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.10470C>T	7.37:g.100685167C>T						MUC17_uc010lho.1_Non-coding_Transcript	p.T3490T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	10523	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3490			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.10470C>T	CCDS34711.1																																																																																				0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		143	202	0	0	0	1	0	143	202				
ZNF609	23060	broad.mit.edu	37	15	64966384	64966384	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr15:64966384C>A	ENST00000326648.3	+	4	1459	c.1331C>A	c.(1330-1332)cCc>cAc	p.P444H	RNU6-549P_ENST00000384433.1_RNA|ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	444						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAAACAAACCCCTTTCAGAC	0.562																																						uc002ann.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1330-1332)cCc>cAc		Homo sapiens zinc finger protein 609 (ZNF609), mRNA.							72.0	73.0	72.0					15																	64966384		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966384C>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1331C>A	15.37:g.64966384C>A	ENSP00000316527:p.Pro444His						p.P444H	NM_015042	NP_055857	O15014	ZN609_HUMAN			3	1331	+			444					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1331C>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223625	0.58668	.	.	ENSG00000180357	ENST00000326648	T	0.52057	0.68	5.4	5.4	0.78164	.	0.046113	0.85682	D	0.000000	T	0.69611	0.3130	M	0.70275	2.135	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.72330	-0.4326	10	0.72032	D	0.01	-15.8453	19.1915	0.93669	0.0:1.0:0.0:0.0	.	444	O15014	ZN609_HUMAN	H	444	ENSP00000316527:P444H	ENSP00000316527:P444H	P	+	2	0	ZNF609	62753437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.528000	0.85240	0.650000	0.86243	CCC		0.562	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		3	74	0	0	0	1	0	3	74				
VARS	7407	broad.mit.edu	37	6	31760609	31760609	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr6:31760609G>A	ENST00000375663.3	-	4	1026	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	196	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTGGCTGCCGGACACACGTG	0.557																																						uc003nxe.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(586-588)Cgg>Tgg		Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	L-Valine(DB00161)						49.0	50.0	49.0					6																	31760609		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760609G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.586C>T	6.37:g.31760609G>A	ENSP00000364815:p.Arg196Trp					VARS_uc011doi.1_Non-coding_Transcript	p.R196W	NM_006295	NP_006286	P26640	SYVC_HUMAN			3	1009	-			196			GST C-terminal.		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.586C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235989	0.58886	.	.	ENSG00000204394	ENST00000375663	T	0.02177	4.41	5.24	5.24	0.73138	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.379447	0.27056	N	0.021145	T	0.01124	0.0037	N	0.14661	0.345	0.80722	D	1	P	0.51057	0.941	B	0.43360	0.417	T	0.68773	-0.5320	10	0.72032	D	0.01	-7.6021	14.3229	0.66499	0.0:0.0:1.0:0.0	.	196	P26640	SYVC_HUMAN	W	196	ENSP00000364815:R196W	ENSP00000364815:R196W	R	-	1	2	VARS	31868588	1.000000	0.71417	0.997000	0.53966	0.545000	0.35147	4.155000	0.58131	2.427000	0.82271	0.467000	0.42956	CGG		0.557	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		3	53	0	0	0	1	0	3	53				
EIF3A	8661	broad.mit.edu	37	10	120797832	120797832	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr10:120797832G>C	ENST00000369144.3	-	20	3773	c.3646C>G	c.(3646-3648)Cgg>Ggg	p.R1216G	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1182G	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ttctcctcccgatcttgatta	0.483																																						uc001ldu.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3646-3648)Cgg>Ggg		Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.							261.0	214.0	230.0					10																	120797832		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120797832G>C	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3646C>G	10.37:g.120797832G>C	ENSP00000358140:p.Arg1216Gly					EIF3A_uc010qsu.2_Missense_Mutation_p.R1182G|EIF3A_uc009xzg.1_Missense_Mutation_p.R255G	p.R1216G	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3792	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1216			Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3646C>G	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281260	0.40394	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.26660	1.81;1.72	5.74	5.74	0.90152	.	0.000000	0.37304	N	0.002144	T	0.28134	0.0694	N	0.19112	0.55	0.35731	D	0.817922	D;B	0.56287	0.975;0.358	P;B	0.53313	0.723;0.091	T	0.10590	-1.0623	10	0.35671	T	0.21	-11.9695	15.7729	0.78184	0.0:0.0:1.0:0.0	.	1182;1216	F5H335;Q14152	.;EIF3A_HUMAN	G	1216;1182	ENSP00000358140:R1216G;ENSP00000438178:R1182G	ENSP00000358140:R1216G	R	-	1	2	EIF3A	120787822	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	3.715000	0.54897	2.873000	0.98535	0.561000	0.74099	CGG		0.483	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		3	82	0	0	0	1	0	3	82				
FEZ1	9638	broad.mit.edu	37	11	125359608	125359608	+	Silent	SNP	G	G	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr11:125359608G>A	ENST00000278919.3	-	2	300	c.66C>T	c.(64-66)gaC>gaT	p.D22D	FEZ1_ENST00000366139.3_Silent_p.D22D|FEZ1_ENST00000524435.1_Silent_p.D22D	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	22					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCCTCCGGGTCCTCCGAGC	0.542																																					Melanoma(180;509 2033 10762 15939 24711)	uc001qbx.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(64-66)gaC>gaT		Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.							69.0	74.0	72.0					11																	125359608		2201	4299	6500	SO:0001819	synonymous_variant	9638				axon guidance|cell adhesion|transport	microtubule|plasma membrane		g.chr11:125359608G>A	U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.66C>T	11.37:g.125359608G>A						FEZ1_uc010sbc.2_Silent_p.D22D|FEZ1_uc001qby.2_Silent_p.D22D|FEZ1_uc021qrv.1_Silent_p.D22D	p.D22D	NM_005103	NP_005094	Q99689	FEZ1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)	1	301	-	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	22					O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	c.66C>T	CCDS31716.1																																																																																				0.542	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103		44	71	0	0	0	1	0	44	71				
XPOT	11260	broad.mit.edu	37	12	64812728	64812728	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr12:64812728A>G	ENST00000332707.5	+	6	872	c.343A>G	c.(343-345)Aca>Gca	p.T115A		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	115	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.T115A(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GCTTTTTGTTACAGAGTATCT	0.433																																						uc001ssb.3																			2	Substitution - Missense(2)	p.T115A(4)	kidney(2)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(343-345)Aca>Gca		Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.							108.0	103.0	105.0					12																	64812728		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812728A>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.343A>G	12.37:g.64812728A>G	ENSP00000327821:p.Thr115Ala					XPOT_uc009zqm.2_Missense_Mutation_p.T25A	p.T115A	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	5	849	+			115			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.343A>G	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	A	7.950	0.744725	0.15710	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	T;T	0.39406	1.08;1.08	4.78	4.78	0.61160	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.149484	0.64402	D	0.000017	T	0.19046	0.0457	N	0.02296	-0.605	0.46356	D	0.999	B	0.18610	0.029	B	0.14578	0.011	T	0.09596	-1.0667	9	.	.	.	.	14.633	0.68671	1.0:0.0:0.0:0.0	.	115	O43592	XPOT_HUMAN	A	115	ENSP00000327821:T115A;ENSP00000383722:T115A	.	T	+	1	0	XPOT	63098995	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.253000	0.78320	1.918000	0.55548	0.455000	0.32223	ACA		0.433	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		3	55	0	0	0	1	0	3	55				
VCAM1	7412	broad.mit.edu	37	1	101198093	101198093	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr1:101198093C>A	ENST00000294728.2	+	7	1746	c.1645C>A	c.(1645-1647)Cag>Aag	p.Q549K	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q487K|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q457K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q350K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	549	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.Q549K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGAGCAGGCAGCTCCCTAA	0.483																																						uc001dti.3																			1	Substitution - Missense(1)	p.Q549K(2)	lung(1)	central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1645-1647)Cag>Aag		Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	Carvedilol(DB01136)						46.0	49.0	48.0					1																	101198093		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198093C>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1645C>A	1.37:g.101198093C>A	ENSP00000294728:p.Gln549Lys					VCAM1_uc010ouj.2_Missense_Mutation_p.Q487K|VCAM1_uc001dtj.3_Missense_Mutation_p.Q457K	p.Q549K	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	6	1866	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	549			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1645C>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.172710	0.00315	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.57	-0.954	0.10359	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.051540	0.07249	N	0.865631	T	0.01592	0.0051	N	0.11064	0.09	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.14023	0.008;0.01;0.009	T	0.45071	-0.9286	10	0.06099	T	0.92	0.4401	10.342	0.43884	0.5996:0.3314:0.0:0.0691	.	487;457;549	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	K	487;457;549;350	ENSP00000359137:Q487K;ENSP00000304611:Q457K;ENSP00000294728:Q549K;ENSP00000359133:Q350K	ENSP00000294728:Q549K	Q	+	1	0	VCAM1	100970681	0.000000	0.05858	0.337000	0.25536	0.093000	0.18481	-0.120000	0.10660	0.060000	0.16281	-0.169000	0.13324	CAG		0.483	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		17	21	0	0	0	1	0	17	21				
ALMS1	7840	broad.mit.edu	37	2	73613087	73613089	+	In_Frame_Del	DEL	GCG	GCG	-	rs13009609		TCGA-EL-A3TB-01A-11D-A22D-08	TCGA-EL-A3TB-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0567d3e6-6278-4d0a-81ae-c084d73c6dd3	9dcf95bf-fb65-4589-90cb-302da798f00b	g.chr2:73613087_73613089delGCG	ENST00000264448.6	+	1	202_204	c.91_93delGCG	c.(91-93)gcgdel	p.A35del	ALMS1_ENST00000409009.1_In_Frame_Del_p.A35del|ALMS1_ENST00000377715.1_In_Frame_Del_p.A35del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	35	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ggaggCTGCAGCGGCGGCGGCGG	0.675																																						uc002sje.1																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(91-93)gcgdel		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.																																				SO:0001651	inframe_deletion	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613087_73613089delGCG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.91_93delGCG	2.37:g.73613096_73613098delGCG	ENSP00000264448:p.Ala35del					ALMS1_uc002sjf.1_In_Frame_Del_p.A35del	p.A35del	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			0	202_204	+			35			Glu-rich.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Del	DEL	ENST00000264448.6	37	c.91_93delGCG	CCDS42697.1																																																																																				0.675	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		2	4						2	4	---	---	---	---
