#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
RNF181	51255	broad.mit.edu	37	2	85822893	85822893	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:85822893T>C	ENST00000306368.4	+	1	37	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	RNF181_ENST00000441634.1_Missense_Mutation_p.S3P	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	3					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						AGCCATGGCGTCCTATTTCGA	0.642																																						ENST00000441634.1																			0				lung(1)|stomach(1)	2						c.(7-9)Tcc>Ccc		ring finger protein 181							41.0	34.0	37.0					2																	85822893		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85822893T>C	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.7T>C	2.37:g.85822893T>C	ENSP00000306906:p.Ser3Pro					RNF181_ENST00000306368.4_Missense_Mutation_p.S3P	p.S3P			Q9P0P0	RN181_HUMAN			1	46	+			3					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.7T>C	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854758	0.91355	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000414390	D;D	0.91011	-2.77;-2.77	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94420	0.8205	M	0.72118	2.19	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	D	0.94477	0.7690	10	0.54805	T	0.06	.	13.4646	0.61245	0.0:0.0:0.0:1.0	.	3	Q9P0P0	RN181_HUMAN	P	3	ENSP00000412025:S3P;ENSP00000306906:S3P	ENSP00000306906:S3P	S	+	1	0	RNF181	85676404	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.406000	0.73276	2.080000	0.62538	0.459000	0.35465	TCC		0.642	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		6	41	0	0	0	1	0	6	41				
COX15	1355	broad.mit.edu	37	10	101491747	101491747	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:101491747G>A	ENST00000016171.5	-	1	110	c.60C>T	c.(58-60)ctC>ctT	p.L20L	CUTC_ENST00000493385.1_Intron|CUTC_ENST00000370476.5_5'Flank|COX15_ENST00000370483.5_Silent_p.L20L			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	20					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TAGGAGCCAGGAGCGGCAGAT	0.612																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(58-60)ctC>ctT		cytochrome c oxidase assembly homolog 15 (yeast)							35.0	28.0	30.0					10																	101491747		2203	4300	6503	SO:0001819	synonymous_variant	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101491747G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.60C>T	10.37:g.101491747G>A						CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Silent_p.L20L	p.L20L	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	1	110	-		Colorectal(252;0.234)	20					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Silent	SNP	ENST00000016171.5	37	c.60C>T	CCDS7482.1																																																																																				0.612	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		5	15	0	0	0	1	0	5	15				
SUPT5H	6829	broad.mit.edu	37	19	39955456	39955456	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:39955456G>A	ENST00000599117.1	+	12	1010	c.643G>A	c.(643-645)Gta>Ata	p.V215I	SUPT5H_ENST00000402194.2_Missense_Mutation_p.V211I|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V215I|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V215I|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V211I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	215	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GATCAAGTCAGTAGTGGCACC	0.572																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(643-645)Gta>Ata		suppressor of Ty 5 homolog (S. cerevisiae)							88.0	83.0	84.0					19																	39955456		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39955456G>A	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.643G>A	19.37:g.39955456G>A	ENSP00000470252:p.Val215Ile					SUPT5H_ENST00000359191.6_Missense_Mutation_p.V211I|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V215I|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V211I|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V215I	p.V215I			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		12	1010	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		215			Interaction with SUPT4H1.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.643G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730063	0.69074	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	Transcription antitermination protein, NusG, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.28400	0.85	0.80722	D	1	P;P	0.37083	0.526;0.581	B;P	0.45946	0.365;0.498	T	0.50162	-0.8860	8	.	.	.	-13.744	18.4325	0.90632	0.0:0.0:1.0:0.0	.	211;215	O00267-2;O00267	.;SPT5H_HUMAN	I	215;211;193;215	.	.	V	+	1	0	SUPT5H	44647296	1.000000	0.71417	0.910000	0.35882	0.989000	0.77384	9.653000	0.98506	2.645000	0.89757	0.655000	0.94253	GTA		0.572	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		7	181	0	0	0	1	0	7	181				
ANKS3	124401	broad.mit.edu	37	16	4750876	4750876	+	Intron	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:4750876G>A	ENST00000304283.4	-	11	1579				ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000450067.2_Missense_Mutation_p.A254V|ANKS3_ENST00000585773.1_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3											endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGTTCTCCTAGCAGCGCCTGG	0.577																																						ENST00000450067.2																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(760-762)gCt>gTt		ankyrin repeat and sterile alpha motif domain containing 3																																				SO:0001627	intron_variant	124401							g.chr16:4750876G>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1284+94C>T	16.37:g.4750876G>A						ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000304283.4_Intron	p.A254V			Q6ZW76	ANKS3_HUMAN			7	1071	-			0					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.761C>T	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509215	0.27036	.	.	ENSG00000168096	ENST00000450067	T	0.51325	0.71	2.44	-2.65	0.06095	.	.	.	.	.	T	0.34019	0.0883	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31530	-0.9940	8	0.87932	D	0	.	7.5523	0.27804	0.4024:0.0:0.5976:0.0	.	254	Q6ZWA7	.	V	254	ENSP00000388270:A254V	ENSP00000388270:A254V	A	-	2	0	ANKS3	4690877	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.948000	0.03897	-0.726000	0.04895	-0.379000	0.06801	GCT		0.577	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		21	136	0	0	0	1	0	21	136				
ZNF383	163087	broad.mit.edu	37	19	37734477	37734477	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:37734477G>A	ENST00000589413.1	+	8	1922	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ZNF383_ENST00000352998.3_Missense_Mutation_p.E447K|ZNF383_ENST00000590503.1_Missense_Mutation_p.E447K			Q8NA42	ZN383_HUMAN	zinc finger protein 383	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGTGAAAAGCCCTA	0.348																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1339-1341)Gaa>Aaa		zinc finger protein 383							78.0	82.0	80.0					19																	37734477		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734477G>A	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1339G>A	19.37:g.37734477G>A	ENSP00000464871:p.Glu447Lys					ZNF383_ENST00000352998.3_Missense_Mutation_p.E447K|ZNF383_ENST00000590503.1_Missense_Mutation_p.E447K	p.E447K			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1922	+			447					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.1339G>A	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.063006	0.36373	.	.	ENSG00000188283	ENST00000352998	T	0.24350	1.86	3.62	3.62	0.41486	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25531	0.0621	L	0.38733	1.17	0.28888	N	0.893987	P	0.34662	0.462	B	0.39258	0.295	T	0.16129	-1.0413	9	0.52906	T	0.07	.	13.1655	0.59569	0.0:0.0:1.0:0.0	.	447	Q8NA42	ZN383_HUMAN	K	447	ENSP00000340132:E447K	ENSP00000340132:E447K	E	+	1	0	ZNF383	42426317	0.361000	0.24972	0.767000	0.31495	0.550000	0.35303	0.890000	0.28295	2.017000	0.59298	0.563000	0.77884	GAA		0.348	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		66	54	0	0	0	1	0	66	54				
PICK1	9463	broad.mit.edu	37	22	38470949	38470949	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr22:38470949G>A	ENST00000404072.3	+	13	1405	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	PICK1_ENST00000356976.3_Missense_Mutation_p.R353Q|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	353	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCAGTGCTGCGGGATGCCGAC	0.617																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1057-1059)cGg>cAg		protein interacting with PRKCA 1							108.0	74.0	86.0					22																	38470949		2203	4300	6503	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38470949G>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1058G>A	22.37:g.38470949G>A	ENSP00000385205:p.Arg353Gln					PICK1_ENST00000356976.3_Missense_Mutation_p.R353Q	p.R353Q	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			13	1405	+	Melanoma(58;0.045)		353			AH.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.1058G>A	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681847	0.29872	.	.	ENSG00000100151	ENST00000404072;ENST00000356976	T;T	0.75589	-0.95;-0.95	4.33	3.27	0.37495	Arfaptin-like (2);	0.126712	0.53938	D	0.000045	T	0.45696	0.1355	N	0.02011	-0.69	0.33329	D	0.568347	B	0.16166	0.016	B	0.08055	0.003	T	0.50065	-0.8871	10	0.35671	T	0.21	-6.0804	9.3911	0.38374	0.1714:0.0:0.8286:0.0	.	353	Q9NRD5	PICK1_HUMAN	Q	353	ENSP00000385205:R353Q;ENSP00000349465:R353Q	ENSP00000349465:R353Q	R	+	2	0	PICK1	36800895	1.000000	0.71417	0.717000	0.30585	0.401000	0.30781	4.589000	0.61006	0.903000	0.36546	0.561000	0.74099	CGG		0.617	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		28	36	0	0	0	1	0	28	36				
PRRC2B	84726	broad.mit.edu	37	9	134351701	134351701	+	Silent	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:134351701C>T	ENST00000357304.4	+	15	4240	c.4185C>T	c.(4183-4185)tcC>tcT	p.S1395S	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1395							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCCTGGGTCCGAGCCCGACT	0.647											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(4183-4185)tcC>tcT		proline-rich coiled-coil 2B							12.0	14.0	13.0					9																	134351701		1890	4086	5976	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134351701C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4185C>T	9.37:g.134351701C>T			OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	p.S1395S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	4240	+			1395					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.4185C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.842331	0.00573	.	.	ENSG00000130723	ENST00000451855	.	.	.	5.93	-2.95	0.05564	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4692	0.32975	0.1037:0.3309:0.0:0.5654	.	.	.	.	X	129	.	.	R	+	1	2	PRRC2B	133341522	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-3.964000	0.00324	-0.845000	0.04179	-1.814000	0.00607	CGA		0.647	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	3	0	0	0	1	0	3	3				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	80	1	0	0.000157383	1	0.000168493	5	80				
KIFC3	3801	broad.mit.edu	37	16	57795055	57795055	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:57795055G>C	ENST00000379655.4	-	15	2158	c.1901C>G	c.(1900-1902)aCg>aGg	p.T634R	KIFC3_ENST00000421376.2_Missense_Mutation_p.T495R|KIFC3_ENST00000539578.1_Missense_Mutation_p.T576R|KIFC3_ENST00000540079.2_Missense_Mutation_p.T532R|KIFC3_ENST00000562903.1_Missense_Mutation_p.T495R|KIFC3_ENST00000465878.2_Missense_Mutation_p.T495R|KIFC3_ENST00000445690.2_Missense_Mutation_p.T634R|KIFC3_ENST00000541240.1_Missense_Mutation_p.T656R|KIFC3_ENST00000543930.1_Missense_Mutation_p.T492R	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	634	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GAACTCGGTCGTGCGATTAGT	0.632																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1900-1902)aCg>aGg		kinesin family member C3							132.0	120.0	124.0					16																	57795055		2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57795055G>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1901C>G	16.37:g.57795055G>C	ENSP00000368976:p.Thr634Arg					KIFC3_ENST00000562903.1_Missense_Mutation_p.T495R|KIFC3_ENST00000465878.2_Missense_Mutation_p.T495R|KIFC3_ENST00000421376.2_Missense_Mutation_p.T495R|KIFC3_ENST00000539578.1_Missense_Mutation_p.T576R|KIFC3_ENST00000543930.1_Missense_Mutation_p.T492R|KIFC3_ENST00000541240.1_Missense_Mutation_p.T656R|KIFC3_ENST00000445690.2_Missense_Mutation_p.T634R|KIFC3_ENST00000540079.2_Missense_Mutation_p.T532R	p.T634R	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			15	2158	-		all_neural(199;0.224)	634			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1901C>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464021	0.63513	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.105878	0.64402	D	0.000007	T	0.71779	0.3380	L	0.31926	0.97	0.48830	D	0.999715	P;P;P;B;P;P	0.45126	0.851;0.824;0.619;0.029;0.619;0.823	P;B;B;B;B;P	0.50825	0.651;0.395;0.205;0.031;0.407;0.645	T	0.73658	-0.3913	10	0.56958	D	0.05	.	11.0089	0.47651	0.0959:0.0:0.9041:0.0	.	656;576;492;532;634;495	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	R	634;634;495;656;532;492;576	ENSP00000368976:T634R;ENSP00000401696:T634R;ENSP00000396399:T495R;ENSP00000442008:T656R;ENSP00000438805:T532R;ENSP00000444012:T492R;ENSP00000444884:T576R	ENSP00000368976:T634R	T	-	2	0	KIFC3	56352556	0.999000	0.42202	0.965000	0.40720	0.257000	0.26127	3.907000	0.56348	2.402000	0.81655	0.205000	0.17691	ACG		0.632	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		11	85	0	0	0	1	0	11	85				
PXDNL	137902	broad.mit.edu	37	8	52320810	52320810	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:52320810C>A	ENST00000356297.4	-	17	3474	c.3374G>T	c.(3373-3375)aGg>aTg	p.R1125M	PXDNL_ENST00000543296.1_Missense_Mutation_p.R1125M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1125					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGAAGAGCCTCTGGGTCAG	0.577																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3373-3375)aGg>aTg		peroxidasin homolog (Drosophila)-like							66.0	72.0	70.0					8																	52320810		1908	4123	6031	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320810C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3374G>T	8.37:g.52320810C>A	ENSP00000348645:p.Arg1125Met					PXDNL_ENST00000543296.1_Missense_Mutation_p.R1125M	p.R1125M	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3474	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1125					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3374G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.88|10.88	1.476100|1.476100	0.26511|0.26511	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.73047	.|-0.71;-0.71	3.68|3.68	1.18|1.18	0.20946|0.20946	.|.	.|0.393217	.|0.20062	.|N	.|0.100078	T|T	0.80008|0.80008	0.4545|0.4545	M|M	0.82630|0.82630	2.6|2.6	0.25951|0.25951	N|N	0.982747|0.982747	.|D	.|0.67145	.|0.996	.|D	.|0.64687	.|0.928	T|T	0.69818|0.69818	-0.5042|-0.5042	5|10	.|0.87932	.|D	.|0	.|.	5.8846|5.8846	0.18874|0.18874	0.0:0.2813:0.0:0.7187|0.0:0.2813:0.0:0.7187	.|.	.|1125	.|A1KZ92	.|PXDNL_HUMAN	C|M	244|1125	.|ENSP00000348645:R1125M;ENSP00000444865:R1125M	.|ENSP00000348645:R1125M	G|R	-|-	1|2	0|0	PXDNL|PXDNL	52483363|52483363	0.006000|0.006000	0.16342|0.16342	0.009000|0.009000	0.14445|0.14445	0.008000|0.008000	0.06430|0.06430	-0.149000|-0.149000	0.10204|0.10204	-0.069000|-0.069000	0.12931|0.12931	-0.367000|-0.367000	0.07326|0.07326	GGC|AGG		0.577	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		27	99	1	0	1.2476e-16	1	1.55523e-16	27	99				
UST	10090	broad.mit.edu	37	6	149395011	149395011	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr6:149395011C>A	ENST00000367463.4	+	8	1083	c.980C>A	c.(979-981)aCt>aAt	p.T327N	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	327					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GTGAAGAAGACTGTCCCCTCT	0.527																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(979-981)aCt>aAt		uronyl-2-sulfotransferase							114.0	97.0	103.0					6																	149395011		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149395011C>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.980C>A	6.37:g.149395011C>A	ENSP00000356433:p.Thr327Asn					UST_ENST00000466695.1_3'UTR	p.T327N	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	8	1083	+		Ovarian(120;0.0907)	327					B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.980C>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091871	0.36952	.	.	ENSG00000111962	ENST00000367463	T	0.75260	-0.92	5.6	5.6	0.85130	.	0.278543	0.41097	D	0.000950	T	0.47930	0.1472	N	0.17082	0.46	0.46927	D	0.999251	B	0.09022	0.002	B	0.18263	0.021	T	0.46884	-0.9159	10	0.17832	T	0.49	-14.9756	19.612	0.95610	0.0:1.0:0.0:0.0	.	327	Q9Y2C2	UST_HUMAN	N	327	ENSP00000356433:T327N	ENSP00000356433:T327N	T	+	2	0	UST	149436704	0.999000	0.42202	0.972000	0.41901	0.998000	0.95712	4.204000	0.58460	2.632000	0.89209	0.563000	0.77884	ACT		0.527	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		17	39	1	0	4.7546e-09	1	5.40836e-09	17	39				
MALAT1	378938	broad.mit.edu	37	11	65266213	65266213	+	lincRNA	SNP	A	A	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:65266213A>T	ENST00000534336.1	+	0	981				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GAGGTATTTTAAAAGTTCCGG	0.378																																						ENST00000534336.1																			0																				226.0	243.0	238.0					11																	65266213		874	1988	2862			0							g.chr11:65266213A>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266213A>T								NR_002819.2						0	981	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.378	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		13	151	0	0	0	1	0	13	151				
TARS2	80222	broad.mit.edu	37	1	150478148	150478148	+	Silent	SNP	C	C	A	rs146012895		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:150478148C>A	ENST00000369064.3	+	17	2009	c.1975C>A	c.(1975-1977)Cgg>Agg	p.R659R	ECM1_ENST00000369049.4_5'Flank|ECM1_ENST00000346569.6_5'Flank|ECM1_ENST00000369047.4_5'Flank|TARS2_ENST00000369054.2_Silent_p.R529R|TARS2_ENST00000606933.1_Silent_p.R577R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	659					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GAGAATCCGCCGGGCCCAGCT	0.557																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1975-1977)Cgg>Agg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						68.0	71.0	70.0					1																	150478148		2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150478148C>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1975C>A	1.37:g.150478148C>A						TARS2_ENST00000606933.1_Silent_p.R577R|TARS2_ENST00000369054.2_Silent_p.R529R	p.R659R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		17	2009	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		659					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1975C>A	CCDS952.1																																																																																				0.557	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	98	1	0	0.000602214	1	0.000622744	5	98				
MARS	4141	broad.mit.edu	37	12	57882857	57882857	+	Silent	SNP	C	C	T	rs540781909		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:57882857C>T	ENST00000262027.5	+	2	299	c.165C>T	c.(163-165)agC>agT	p.S55S	ARHGAP9_ENST00000393797.2_5'Flank|MARS_ENST00000447721.2_Intron|ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	55					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AGCTGGATAGCGGCAACTACC	0.483																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(163-165)agC>agT		methionyl-tRNA synthetase	L-Methionine(DB00134)						137.0	115.0	122.0					12																	57882857		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57882857C>T	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.165C>T	12.37:g.57882857C>T						MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	p.S55S	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		2	299	+			55					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.165C>T	CCDS8942.1																																																																																				0.483	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		11	78	0	0	0	1	0	11	78				
MT-CO1	4512	broad.mit.edu	37	M	7075	7075	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrM:7075G>A	ENST00000361624.2	+	1	1172	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	391					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TGCCATCATAGGAGGCTTCAT	0.423																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(1171-1173)gGa>gAa		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:7075G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1172G>A	M.37:g.7075G>A	ENSP00000354499:p.Gly391Glu						p.391_391insE							1	1172	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.1172G>A																																																																																					0.423	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		20	104	0	0	0	1	0	20	104				
POM121L12	285877	broad.mit.edu	37	7	53103788	53103788	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:53103788G>A	ENST00000408890.4	+	1	440	c.424G>A	c.(424-426)Gcg>Acg	p.A142T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATCGGGATCGCGCCCCCTGA	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(424-426)Gcg>Acg		POM121 transmembrane nucleoporin-like 12							21.0	25.0	24.0					7																	53103788		1955	4102	6057	SO:0001583	missense	285877							g.chr7:53103788G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.424G>A	7.37:g.53103788G>A	ENSP00000386133:p.Ala142Thr						p.A142T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	440	+			142					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.424G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901192	0.17760	.	.	ENSG00000221900	ENST00000408890	T	0.47177	0.85	1.63	-0.313	0.12754	.	.	.	.	.	T	0.28928	0.0718	L	0.34521	1.04	0.09310	N	1	P	0.45078	0.85	B	0.37422	0.249	T	0.12682	-1.0538	9	0.41790	T	0.15	.	4.3459	0.11133	0.3683:0.0:0.6317:0.0	.	142	Q8N7R1	P1L12_HUMAN	T	142	ENSP00000386133:A142T	ENSP00000386133:A142T	A	+	1	0	POM121L12	53071282	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.010000	0.03656	-0.095000	0.12351	0.462000	0.41574	GCG		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		10	49	0	0	0	1	0	10	49				
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		178	Substitution - Missense(178)	p.E545A(96)|p.E545G(78)|p.E545V(4)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)gAg>gCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	61.0	61.0					3																	178936092		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936092A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1634A>C	3.37:g.178936092A>C	ENSP00000263967:p.Glu545Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1791	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1634A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555316	0.86231	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	L	0.43757	1.38	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.69109	-0.5232	10	0.34782	T	0.22	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	A	545	ENSP00000263967:E545A	ENSP00000263967:E545A	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	19	0	0	0	1	0	7	19				
GLI2	2736	broad.mit.edu	37	2	121732502	121732502	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:121732502C>A	ENST00000452319.1	+	9	1245	c.1185C>A	c.(1183-1185)ggC>ggA	p.G395G	GLI2_ENST00000361492.4_Silent_p.G395G|GLI2_ENST00000435313.2_Intron|GLI2_ENST00000314490.11_Silent_p.G67G					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTTTTCAGGGCCAGGTGTCTG	0.567																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1183-1185)ggC>ggA		GLI family zinc finger 2							111.0	97.0	102.0					2																	121732502		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121732502C>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1185C>A	2.37:g.121732502C>A						GLI2_ENST00000435313.2_Intron|GLI2_ENST00000361492.4_Silent_p.G395G|GLI2_ENST00000314490.11_Silent_p.G67G	p.G395G			P10070	GLI2_HUMAN			9	1245	+	Renal(3;0.0496)	Prostate(154;0.0623)	395						Silent	SNP	ENST00000452319.1	37	c.1185C>A	CCDS33283.1																																																																																				0.567	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		15	72	1	0	3.35478e-16	1	4.12547e-16	15	72				
ZNF462	58499	broad.mit.edu	37	9	109691937	109691937	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:109691937A>G	ENST00000277225.5	+	3	6033	c.5744A>G	c.(5743-5745)aAt>aGt	p.N1915S	ZNF462_ENST00000457913.1_Missense_Mutation_p.N1915S|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000441147.2_Missense_Mutation_p.N760S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1915					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACATTCACAATGAGGAATTC	0.493																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5743-5745)aAt>aGt		zinc finger protein 462							117.0	106.0	110.0					9																	109691937		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691937A>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5744A>G	9.37:g.109691937A>G	ENSP00000277225:p.Asn1915Ser					ZNF462_ENST00000457913.1_Missense_Mutation_p.N1915S|ZNF462_ENST00000441147.2_Missense_Mutation_p.N760S	p.N1915S			Q96JM2	ZN462_HUMAN			3	6033	+			1915					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5744A>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.921039	0.52653	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05258	3.47;3.79;3.89;3.89	5.92	5.92	0.95590	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75020	0.969;0.985	T	0.01294	-1.1393	10	0.45353	T	0.12	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	1915;1915	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	1915;1915;798;760	ENSP00000277225:N1915S;ENSP00000414570:N1915S;ENSP00000363818:N798S;ENSP00000397306:N760S	ENSP00000277225:N1915S	N	+	2	0	ZNF462	108731758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.270000	0.75569	0.459000	0.35465	AAT		0.493	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		17	47	0	0	0	1	0	17	47				
DCTN5	84516	broad.mit.edu	37	16	23654275	23654275	+	Splice_Site	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:23654275G>C	ENST00000300087.2	+	2	199		c.e2-1		DCTN5_ENST00000568272.1_Splice_Site|PALB2_ENST00000261584.4_5'Flank|DCTN5_ENST00000568589.1_Splice_Site|DCTN5_ENST00000563998.1_Splice_Site	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TTTTCTTTTAGGCATCTGGGA	0.443																																						ENST00000300087.2																			0				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10						c.e2-1		dynactin 5 (p25)							105.0	105.0	105.0					16																	23654275		2197	4300	6497	SO:0001630	splice_region_variant	84516					centrosome	transferase activity	g.chr16:23654275G>C		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.49-1G>C	16.37:g.23654275G>C						DCTN5_ENST00000568589.1_Splice_Site|DCTN5_ENST00000568272.1_Splice_Site|DCTN5_ENST00000563998.1_Splice_Site		NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	2	199	+								A8K9X8|H3BN51|H3BQA4	Splice_Site	SNP	ENST00000300087.2	37		CCDS10615.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790646	0.70452	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2059	0.82131	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCTN5	23561776	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.264000	0.89866	2.421000	0.82119	0.549000	0.68633	.		0.443	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486	Intron	15	78	0	0	0	1	0	15	78				
CPQ	10404	broad.mit.edu	37	8	97847356	97847356	+	Missense_Mutation	SNP	G	G	T	rs373864966|rs113098340		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:97847356G>T	ENST00000220763.5	+	3	799	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	197					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										AGCTGCCAAGGTGGGGGCTTT	0.478																																						ENST00000220763.5																			0											c.(589-591)Gtg>Ttg		carboxypeptidase Q							99.0	100.0	99.0					8																	97847356		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97847356G>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.589G>T	8.37:g.97847356G>T	ENSP00000220763:p.Val197Leu						p.V197L	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			3	799	+			197					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.589G>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	4.641	0.119069	0.08881	.	.	ENSG00000104324	ENST00000220763	T	0.42131	0.98	5.63	4.75	0.60458	.	0.064020	0.64402	D	0.000008	T	0.27098	0.0664	N	0.16098	0.37	0.41313	D	0.987121	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04708	-1.0932	10	0.21014	T	0.42	-17.4832	15.0548	0.71904	0.0:0.1412:0.8588:0.0	.	197;197	B5MDX4;Q9Y646	.;PGCP_HUMAN	L	197	ENSP00000220763:V197L	ENSP00000220763:V197L	V	+	1	0	AC010859.1	97916532	1.000000	0.71417	0.765000	0.31456	0.135000	0.20990	5.808000	0.69165	1.359000	0.45940	0.655000	0.94253	GTG		0.478	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		5	70	1	0	0.014758	1	0.014922	5	70				
C1orf43	25912	broad.mit.edu	37	1	154186393	154186393	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:154186393C>G	ENST00000368521.5	-	4	514	c.316G>C	c.(316-318)Gct>Cct	p.A106P	C1orf43_ENST00000368516.1_Missense_Mutation_p.A72P|C1orf43_ENST00000368518.1_Missense_Mutation_p.A106P|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000350592.3_Missense_Mutation_p.A72P	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	106						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCATCCAGAGCTTTCATCCTA	0.488																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(316-318)Gct>Cct		chromosome 1 open reading frame 43							153.0	145.0	147.0					1																	154186393		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154186393C>G	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.316G>C	1.37:g.154186393C>G	ENSP00000357507:p.Ala106Pro					C1orf43_ENST00000350592.3_Missense_Mutation_p.A72P|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368516.1_Missense_Mutation_p.A72P|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.A106P	p.A106P	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			4	514	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		106					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.316G>C	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495478	0.85069	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000368518;ENST00000368516	.	.	.	5.46	5.46	0.80206	.	0.100601	0.64402	D	0.000001	T	0.70281	0.3206	M	0.75615	2.305	0.53688	D	0.999973	D;P	0.57257	0.979;0.834	P;P	0.62184	0.899;0.541	T	0.73720	-0.3894	9	0.87932	D	0	-13.0674	11.8796	0.52566	0.0:0.9217:0.0:0.0783	.	106;72	Q9BWL3;Q09GN0	CA043_HUMAN;.	P	72;106;106;72	.	ENSP00000271925:A72P	A	-	1	0	C1orf43	152453017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.908000	0.56355	2.861000	0.98227	0.650000	0.86243	GCT		0.488	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		32	103	0	0	0	1	0	32	103				
FCRL3	115352	broad.mit.edu	37	1	157665945	157665945	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:157665945C>A	ENST00000368184.3	-	7	1308	c.1017G>T	c.(1015-1017)ctG>ctT	p.L339L	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.L339L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	339	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTCTGCCAACAGGGAACGCT	0.522																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1015-1017)ctG>ctT		Fc receptor-like 3							138.0	122.0	127.0					1																	157665945		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665945C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1017G>T	1.37:g.157665945C>A						FCRL3_ENST00000368186.5_Silent_p.L339L|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.L339L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1308	-	all_hematologic(112;0.0378)		339			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1017G>T	CCDS1167.1																																																																																				0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		22	65	1	0	3.5997e-14	1	4.31017e-14	22	65				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	110	0	0	0	1	0	6	110				
HUWE1	10075	broad.mit.edu	37	X	53574727	53574727	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:53574727G>T	ENST00000342160.3	-	67	11000	c.10543C>A	c.(10543-10545)Cca>Aca	p.P3515T	HUWE1_ENST00000262854.6_Missense_Mutation_p.P3515T|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3515	Thr-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCAGGGCTGGAGCAGAAGTG	0.592																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(10543-10545)Cca>Aca		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							89.0	69.0	75.0					X																	53574727		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53574727G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10543C>A	X.37:g.53574727G>T	ENSP00000340648:p.Pro3515Thr					HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.P3515T	p.P3515T			Q7Z6Z7	HUWE1_HUMAN			67	11000	-			3515			Thr-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10543C>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	4.876|4.876	0.162841|0.162841	0.09287|0.09287	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.36878|.	1.23;1.23|.	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	1.517710|.	0.03762|.	N|.	0.258266|.	T|T	0.24967|0.24967	0.0606|0.0606	N|N	0.08118|0.08118	0|0	0.32037|0.32037	N|N	0.598811|0.598811	B;B|.	0.19817|.	0.023;0.039|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.22941|0.22941	-1.0202|-1.0202	10|5	0.45353|.	T|.	0.12|.	.|.	10.3324|10.3324	0.43831|0.43831	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3515;3499|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	T|Y	3515|2548;352	ENSP00000340648:P3515T;ENSP00000262854:P3515T|.	ENSP00000262854:P3515T|.	P|S	-|-	1|2	0|0	HUWE1|HUWE1	53591452|53591452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	1.811000|1.811000	0.38942|0.38942	2.195000|2.195000	0.70347|0.70347	0.502000|0.502000	0.49764|0.49764	CCA|TCC		0.592	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		8	29	1	0	1.12685e-05	1	1.22075e-05	8	29				
SEC61A1	29927	broad.mit.edu	37	3	127786361	127786361	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:127786361C>T	ENST00000243253.3	+	10	1257	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Missense_Mutation_p.P238L|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.P364L	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	358					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TTAGAAGACCCGGTCCATGCA	0.512																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(1072-1074)cCg>cTg		Sec61 alpha 1 subunit (S. cerevisiae)							154.0	153.0	153.0					3																	127786361		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127786361C>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1073C>T	3.37:g.127786361C>T	ENSP00000243253:p.Pro358Leu					SEC61A1_ENST00000424880.2_Missense_Mutation_p.P238L|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.P364L	p.P358L	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			10	1257	+			358					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.1073C>T	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797275	0.70567	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.05	5.05	0.67936	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86509	0.1808	9	0.87932	D	0	.	18.4158	0.90570	0.0:1.0:0.0:0.0	.	358	P61619	S61A1_HUMAN	L	364;358;238	.	ENSP00000243253:P358L	P	+	2	0	SEC61A1	129269051	1.000000	0.71417	0.945000	0.38365	0.104000	0.19210	7.818000	0.86416	2.338000	0.79540	0.655000	0.94253	CCG		0.512	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		14	96	0	0	0	1	0	14	96				
PCDHA7	56141	broad.mit.edu	37	5	140214339	140214339	+	Missense_Mutation	SNP	A	A	G	rs61730624	byFrequency	TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:140214339A>G	ENST00000525929.1	+	1	371	c.371A>G	c.(370-372)aAg>aGg	p.K124R	PCDHA7_ENST00000378125.3_Missense_Mutation_p.K124R|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGGTGAAGGACATTAAC	0.607																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(370-372)aAg>aGg									127.0	136.0	133.0					5																	140214339		2203	4300	6503	SO:0001583	missense	0							g.chr5:140214339A>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.371A>G	5.37:g.140214339A>G	ENSP00000436426:p.Lys124Arg					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.K124R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.K124R	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	371	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.371A>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	A	2.049	-0.418289	0.04766	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.51325	0.71;0.71	3.99	-1.79	0.07932	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.255699	0.19274	N	0.118337	T	0.26340	0.0643	L	0.28192	0.835	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.16289	0.014;0.015	T	0.20472	-1.0274	10	0.15952	T	0.53	.	7.0843	0.25249	0.4596:0.1357:0.4048:0.0	rs61730624	124;124	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	R	124	ENSP00000436426:K124R;ENSP00000367365:K124R	ENSP00000367365:K124R	K	+	2	0	PCDHA7	140194523	0.000000	0.05858	0.992000	0.48379	0.851000	0.48451	-3.261000	0.00536	-0.578000	0.05959	-0.647000	0.03941	AAG		0.607	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		20	227	0	0	0	1	0	20	227				
PDIA4	9601	broad.mit.edu	37	7	148718139	148718139	+	Silent	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:148718139T>C	ENST00000286091.4	-	2	421	c.189A>G	c.(187-189)ggA>ggG	p.G63G		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	63	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GGACCAAGACTCCATTTTCTT	0.418																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(187-189)ggA>ggG		protein disulfide isomerase family A, member 4							192.0	177.0	182.0					7																	148718139		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718139T>C	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.189A>G	7.37:g.148718139T>C							p.G63G	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	421	-	Melanoma(164;0.15)		63			Thioredoxin 1.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.189A>G	CCDS5893.1																																																																																				0.418	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		7	22	0	0	0	1	0	7	22				
PXN	5829	broad.mit.edu	37	12	120652778	120652778	+	Silent	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:120652778C>T	ENST00000228307.7	-	9	1269	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	PXN_ENST00000458477.2_Silent_p.T209T|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000397506.3_Silent_p.T188T|PXN_ENST00000267257.7_Silent_p.T390T|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.T374T|PXN_ENST00000424649.2_Silent_p.T342T	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	376	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGTGCCACGTCTTCCCCA	0.642																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(562-564)acG>acA		paxillin							73.0	82.0	79.0					12																	120652778		2107	4204	6311	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120652778C>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1128G>A	12.37:g.120652778C>T						PXN_ENST00000424649.2_Silent_p.T342T|PXN_ENST00000228307.7_Silent_p.T376T|PXN_ENST00000267257.7_Silent_p.T390T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.T374T|PXN_ENST00000458477.2_Silent_p.T209T	p.T188T			P49023	PAXI_HUMAN			6	1617	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		376					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.564G>A	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346993	0.24426	.	.	ENSG00000089159	ENST00000550795	.	.	.	5.18	-1.41	0.08941	.	.	.	.	.	T	0.38772	0.1053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32534	-0.9903	4	.	.	.	.	0.4263	0.00464	0.2058:0.2779:0.2167:0.2995	.	.	.	.	H	125	.	.	R	-	2	0	PXN	119137161	0.462000	0.25791	1.000000	0.80357	0.983000	0.72400	-0.266000	0.08631	0.079000	0.16929	0.551000	0.68910	CGT		0.642	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		5	29	0	0	0	1	0	5	29				
ZFAT	57623	broad.mit.edu	37	8	135521992	135521992	+	Splice_Site	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:135521992C>T	ENST00000377838.3	-	15	3536	c.3362G>A	c.(3361-3363)gGc>gAc	p.G1121D	ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520727.1_Splice_Site_p.G1109D|ZFAT_ENST00000429442.2_Splice_Site_p.G1109D|ZFAT_ENST00000520214.1_Splice_Site_p.G1109D|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Splice_Site_p.G1059D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1121					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CAGTCGGTCGCCTTAAGAGGA	0.587																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.e16-1		zinc finger and AT hook domain containing							92.0	96.0	95.0					8																	135521992		2074	4198	6272	SO:0001630	splice_region_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135521992C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3362-1G>A	8.37:g.135521992C>T						ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Splice_Site_p.G1109_splice|ZFAT_ENST00000377838.3_Splice_Site_p.G1121_splice|ZFAT_ENST00000429442.2_Splice_Site_p.G1109_splice|ZFAT_ENST00000523399.1_Splice_Site_p.G1059_splice	p.G1109_splice	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		16	3625	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1121					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Splice_Site	SNP	ENST00000377838.3	37	c.3325_splice	CCDS47924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.564882|2.564882	0.45694|0.45694	.|.	.|.	ENSG00000066827|ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399|ENST00000521673	T;T;T;T;T|.	0.12774|.	2.9;2.65;2.9;2.9;2.92|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.218707|.	0.48286|.	D|.	0.000192|.	T|T	0.60104|0.60104	0.2243|0.2243	L|L	0.27053|0.27053	0.805|0.805	0.53005|0.53005	D|D	0.999968|0.999968	D;P;D|.	0.69078|.	0.995;0.953;0.997|.	P;B;D|.	0.63597|.	0.655;0.388;0.916|.	T|T	0.61515|0.61515	-0.7047|-0.7047	10|6	0.72032|0.56958	D|D	0.01|0.05	.|.	18.7468|18.7468	0.91795|0.91795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	240;1059;1121|.	B7Z741;E9PER3;Q9P243|.	.;.;ZFAT_HUMAN|.	D|H	1109;1109;1121;1109;1008;1059|41	ENSP00000427831:G1109D;ENSP00000394501:G1109D;ENSP00000367069:G1121D;ENSP00000428483:G1109D;ENSP00000429091:G1059D|.	ENSP00000326997:G1008D|ENSP00000429600:R41H	G|R	-|-	2|2	0|0	ZFAT|ZFAT	135591174|135591174	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.288000|0.288000	0.27193|0.27193	5.733000|5.733000	0.68571|0.68571	2.672000|2.672000	0.90937|0.90937	0.557000|0.557000	0.71058|0.71058	GGC|CGC		0.587	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	Missense_Mutation	26	144	0	0	0	1	0	26	144				
FANCM	57697	broad.mit.edu	37	14	45636162	45636162	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr14:45636162C>A	ENST00000267430.5	+	11	1883	c.1798C>A	c.(1798-1800)Cag>Aag	p.Q600K	FANCM_ENST00000556036.1_Missense_Mutation_p.Q600K|FANCM_ENST00000542564.2_Missense_Mutation_p.Q574K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	600	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTTATAATCAGAGTCAGTC	0.279								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(1798-1800)Cag>Aag	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							60.0	69.0	66.0					14																	45636162		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45636162C>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1798C>A	14.37:g.45636162C>A	ENSP00000267430:p.Gln600Lys					FANCM_ENST00000556036.1_Missense_Mutation_p.Q600K|FANCM_ENST00000542564.2_Missense_Mutation_p.Q574K	p.Q600K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			11	1883	+			600			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1798C>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254745	0.39896	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.11604	2.76;2.76;2.77;3.63	5.54	5.54	0.83059	Helicase, C-terminal (1);	0.190231	0.47455	D	0.000234	T	0.09291	0.0229	N	0.16862	0.45	0.47584	D	0.999466	B;B;B	0.24823	0.112;0.112;0.007	B;B;B	0.19148	0.024;0.024;0.01	T	0.23084	-1.0198	10	0.44086	T	0.13	.	19.5083	0.95130	0.0:1.0:0.0:0.0	.	574;600;600	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	K	600;600;574;116	ENSP00000450596:Q600K;ENSP00000267430:Q600K;ENSP00000442493:Q574K;ENSP00000452033:Q116K	ENSP00000267430:Q600K	Q	+	1	0	FANCM	44705912	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.657000	0.74402	2.778000	0.95560	0.558000	0.71614	CAG		0.279	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		13	41	1	0	4.3838e-07	1	4.86495e-07	13	41				
WNT7A	7476	broad.mit.edu	37	3	13896248	13896248	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:13896248G>A	ENST00000285018.4	-	3	655	c.351C>T	c.(349-351)caC>caT	p.H117H		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	117					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CTGTGATGGCGTGGGCCACGC	0.642																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(349-351)caC>caT		wingless-type MMTV integration site family, member 7A							87.0	81.0	83.0					3																	13896248		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896248G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.351C>T	3.37:g.13896248G>A							p.H117H	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			3	655	-			117					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.351C>T	CCDS2616.1																																																																																				0.642	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		21	93	0	0	0	1	0	21	93				
COL4A6	1288	broad.mit.edu	37	X	107408631	107408631	+	Missense_Mutation	SNP	G	G	T	rs372872699		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:107408631G>T	ENST00000372216.4	-	38	3880	c.3780C>A	c.(3778-3780)gaC>gaA	p.D1260E	COL4A6_ENST00000545689.1_Missense_Mutation_p.D1235E|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1235E|COL4A6_ENST00000334504.7_Missense_Mutation_p.D1259E|COL4A6_ENST00000394872.2_Missense_Mutation_p.D1260E	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1260	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCGCCCGGGGTCACCAGGCT	0.557									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3778-3780)gaC>gaA		collagen, type IV, alpha 6							99.0	92.0	95.0					X																	107408631		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107408631G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3780C>A	X.37:g.107408631G>T	ENSP00000361290:p.Asp1260Glu					COL4A6_ENST00000372216.4_Missense_Mutation_p.D1260E|COL4A6_ENST00000334504.7_Missense_Mutation_p.D1259E|COL4A6_ENST00000545689.1_Missense_Mutation_p.D1235E|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1235E	p.D1260E			Q14031	CO4A6_HUMAN			38	4011	-			1260			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3780C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189628	0.38707	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96885	-3.36;-3.36;-3.36;-3.36;-4.16	4.32	-0.866	0.10659	.	0.175799	0.27420	N	0.019456	D	0.91888	0.7432	N	0.02765	-0.5	0.25787	N	0.984667	D;B;D;D	0.67145	0.996;0.047;0.973;0.988	D;B;P;P	0.77557	0.99;0.018;0.866;0.858	D	0.85586	0.1243	10	0.35671	T	0.21	.	5.3846	0.16211	0.3858:0.248:0.3661:0.0	.	1235;1235;1260;1259	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	E	1260;1259;1260;1259;1235;1235	ENSP00000361290:D1260E;ENSP00000334733:D1259E;ENSP00000378340:D1260E;ENSP00000443707:D1235E;ENSP00000445236:D1235E	ENSP00000334733:D1259E	D	-	3	2	COL4A6	107295287	0.887000	0.30362	0.056000	0.19401	0.914000	0.54420	0.096000	0.15147	-0.480000	0.06803	-0.297000	0.09499	GAC		0.557	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			30	126	1	0	3.1745e-13	1	3.75168e-13	30	126				
MYO3A	53904	broad.mit.edu	37	10	26434431	26434431	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:26434431C>A	ENST00000265944.5	+	22	2639	c.2473C>A	c.(2473-2475)Ctt>Att	p.L825I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	825	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGAATGGAACTTAGTTTTGG	0.328																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2473-2475)Ctt>Att		myosin IIIA							78.0	78.0	78.0					10																	26434431		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26434431C>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2473C>A	10.37:g.26434431C>A	ENSP00000265944:p.Leu825Ile					MYO3A_ENST00000543632.1_Intron	p.L825I	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			22	2639	+			825			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2473C>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735957	0.69189	.	.	ENSG00000095777	ENST00000265944	D	0.87491	-2.26	5.72	3.82	0.43975	Myosin head, motor domain (2);	0.062950	0.64402	N	0.000005	D	0.90328	0.6974	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.87595	0.2493	10	0.42905	T	0.14	.	5.7711	0.18253	0.1256:0.6459:0.122:0.1065	.	825	Q8NEV4	MYO3A_HUMAN	I	825	ENSP00000265944:L825I	ENSP00000265944:L825I	L	+	1	0	MYO3A	26474437	0.346000	0.24844	0.984000	0.44739	0.998000	0.95712	0.949000	0.29109	0.719000	0.32188	0.655000	0.94253	CTT		0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	29	1	0	4.096e-09	1	4.77867e-09	5	29				
STK3	6788	broad.mit.edu	37	8	99539092	99539092	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:99539092T>C	ENST00000419617.2	-	10	1335	c.1195A>G	c.(1195-1197)Aag>Gag	p.K399E	STK3_ENST00000523601.1_Missense_Mutation_p.K427E	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	399					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AAGTCTTGCTTATCAAAGTAG	0.363																																						ENST00000523601.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1279-1281)Aag>Gag		serine/threonine kinase 3							148.0	142.0	144.0					8																	99539092		1872	4122	5994	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99539092T>C	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1195A>G	8.37:g.99539092T>C	ENSP00000390500:p.Lys399Glu					STK3_ENST00000419617.2_Missense_Mutation_p.K399E	p.K427E	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	12	1678	-	Breast(36;2.4e-06)	Breast(495;0.106)	399					A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.1279A>G	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756076	0.69648	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.21932	1.98;1.98	5.42	5.42	0.78866	.	0.106747	0.64402	D	0.000008	T	0.29620	0.0739	L	0.52905	1.665	0.80722	D	1	B;P	0.45078	0.085;0.85	B;P	0.46208	0.06;0.507	T	0.02676	-1.1125	10	0.59425	D	0.04	.	15.7464	0.77949	0.0:0.0:0.0:1.0	.	399;427	Q13188;B3KYA7	STK3_HUMAN;.	E	399;427	ENSP00000390500:K399E;ENSP00000429744:K427E	ENSP00000390500:K399E	K	-	1	0	STK3	99608268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.628000	0.83189	2.176000	0.68965	0.455000	0.32223	AAG		0.363	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		20	60	0	0	0	1	0	20	60				
PRDM8	56978	broad.mit.edu	37	4	81123265	81123265	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:81123265C>G	ENST00000504452.1	+	8	1488	c.649C>G	c.(649-651)Cag>Gag	p.Q217E	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q217E|PRDM8_ENST00000339711.4_Missense_Mutation_p.Q217E			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcagcagcagcagGAGGCACC	0.672											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(649-651)Cag>Gag		PR domain containing 8							18.0	24.0	22.0					4																	81123265		2023	4187	6210	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123265C>G	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.649C>G	4.37:g.81123265C>G	ENSP00000423985:p.Gln217Glu		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q217E|PRDM8_ENST00000504452.1_Missense_Mutation_p.Q217E	p.Q217E	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1880	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.649C>G	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122577	0.37436	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.63417	-0.04;0.54;-0.04;-0.04	4.66	4.66	0.58398	.	0.633514	0.14982	N	0.287212	T	0.46386	0.1390	N	0.24115	0.695	0.23889	N	0.996557	B	0.25105	0.118	B	0.24006	0.05	T	0.15263	-1.0443	10	0.02654	T	1	.	17.3364	0.87282	0.0:1.0:0.0:0.0	.	217	Q9NQV8	PRDM8_HUMAN	E	217	ENSP00000423985:Q217E;ENSP00000425149:Q217E;ENSP00000339764:Q217E;ENSP00000406998:Q217E	ENSP00000339764:Q217E	Q	+	1	0	PRDM8	81342289	0.010000	0.17322	0.510000	0.27712	0.511000	0.34104	1.329000	0.33770	2.420000	0.82092	0.313000	0.20887	CAG		0.672	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			4	90	0	0	0	1	0	4	90				
NPAP1	23742	broad.mit.edu	37	15	24921416	24921416	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:24921416G>A	ENST00000329468.2	+	1	876	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	134					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGAGCCGGCGGTCAAGGCCA	0.632																																						ENST00000329468.2																			0											c.(400-402)gcG>gcA		nuclear pore associated protein 1							44.0	38.0	40.0					15																	24921416		2202	4299	6501	SO:0001819	synonymous_variant	23742							g.chr15:24921416G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.402G>A	15.37:g.24921416G>A							p.A134A	NM_018958.2	NP_061831.2					1	876	+									Silent	SNP	ENST00000329468.2	37	c.402G>A	CCDS10015.1																																																																																				0.632	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		8	57	0	0	0	1	0	8	57				
WWC3	55841	broad.mit.edu	37	X	10066584	10066584	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:10066584C>A	ENST00000380861.4	+	8	1087	c.696C>A	c.(694-696)gtC>gtA	p.V232V	WWC3_ENST00000454666.1_Silent_p.V232V	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	232					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)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TAGACCGAGTCAGACTTAATT	0.368																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(694-696)gtC>gtA		WWC family member 3							91.0	85.0	87.0					X																	10066584		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10066584C>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.696C>A	X.37:g.10066584C>A						WWC3_ENST00000454666.1_Silent_p.V232V	p.V232V	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			8	1087	+			232					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.696C>A	CCDS14136.1																																																																																				0.368	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		8	26	1	0	0.000274275	1	0.000290221	8	26				
SCN10A	6336	broad.mit.edu	37	3	38798315	38798315	+	Silent	SNP	T	T	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:38798315T>G	ENST00000449082.2	-	9	1139	c.1140A>C	c.(1138-1140)gtA>gtC	p.V380V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	380					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCAGGAAGATTACGAGCACAA	0.463																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1138-1140)gtA>gtC		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						124.0	125.0	125.0					3																	38798315		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798315T>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1140A>C	3.37:g.38798315T>G							p.V380V	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	9	1139	-			380					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.1140A>C	CCDS33736.1																																																																																				0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		18	140	0	0	0	1	0	18	140				
NXF5	55998	broad.mit.edu	37	X	101092527	101092527	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:101092527A>T	ENST00000361708.2	-	15	1378	c.1019T>A	c.(1018-1020)gTg>gAg	p.V340E	NXF5_ENST00000537026.1_Missense_Mutation_p.V340E|NXF5_ENST00000473265.2_Missense_Mutation_p.V340E			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	340	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CCACATGTCCACCAGGATGGA	0.562																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(1018-1020)gTg>gAg		nuclear RNA export factor 5							211.0	166.0	181.0					X																	101092527		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101092527A>T	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.1019T>A	X.37:g.101092527A>T	ENSP00000355286:p.Val340Glu					NXF5_ENST00000473265.2_Missense_Mutation_p.V340E|NXF5_ENST00000361708.2_Missense_Mutation_p.V340E	p.V340E	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN			15	1378	-			340			NTF2; truncated.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.1019T>A		.	.	.	.	.	.	.	.	.	.	.	16.49	3.138419	0.56936	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.61040	0.25;0.25;0.14	2.11	2.11	0.27256	.	0.348179	0.25762	U	0.028476	T	0.70281	0.3206	M	0.82132	2.575	0.41847	D	0.990157	D	0.63046	0.992	D	0.64042	0.921	T	0.72404	-0.4304	10	0.87932	D	0	.	7.5811	0.27965	1.0:0.0:0.0:0.0	.	340	A2RRM0	.	E	340	ENSP00000442401:V340E;ENSP00000426978:V340E;ENSP00000355286:V340E	ENSP00000263032:V340E	V	-	2	0	NXF5	100979183	1.000000	0.71417	0.567000	0.28434	0.241000	0.25554	5.843000	0.69424	1.111000	0.41721	0.226000	0.17787	GTG		0.562	NXF5-201	KNOWN	basic	protein_coding	protein_coding				51	176	0	0	0	1	0	51	176				
PYCR2	29920	broad.mit.edu	37	1	226109286	226109286	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:226109286C>T	ENST00000343818.6	-	5	747	c.599G>A	c.(598-600)cGc>cAc	p.R200H	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R126H	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	200					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	GATTGCCAGGCGCCGTGGCAA	0.572																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(598-600)cGc>cAc		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)						76.0	82.0	80.0					1																	226109286		2203	4300	6503	SO:0001583	missense	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226109286C>T	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.599G>A	1.37:g.226109286C>T	ENSP00000342502:p.Arg200His					RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R126H|PYCR2_ENST00000478402.1_5'UTR	p.R200H	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			5	747	-	Breast(184;0.197)		200					A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	c.599G>A	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.911566	0.52439	.	.	ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940	D;D	0.84442	-1.85;-1.85	4.83	2.96	0.34315	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	N	0.20574	0.59	0.47153	D	0.999335	P;B	0.45212	0.853;0.17	B;B	0.25759	0.063;0.005	T	0.65693	-0.6106	10	0.44086	T	0.13	-11.2917	9.5129	0.39087	0.0:0.8256:0.0:0.1744	.	126;200	E7EUD8;Q96C36	.;P5CR2_HUMAN	H	126;200;199	ENSP00000414068:R126H;ENSP00000342502:R200H	ENSP00000321781:R199H	R	-	2	0	PYCR2;RP4-559A3.7	224175909	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.738000	0.68613	0.749000	0.32854	-0.140000	0.14226	CGC		0.572	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		25	46	0	0	0	1	0	25	46				
HUWE1	10075	broad.mit.edu	37	X	53575115	53575115	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:53575115G>A	ENST00000342160.3	-	67	10612	c.10155C>T	c.(10153-10155)tgC>tgT	p.C3385C	HUWE1_ENST00000262854.6_Silent_p.C3385C|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3385					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGAAGTCTGTGCAAATGCCAC	0.532																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(10153-10155)tgC>tgT		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							63.0	44.0	50.0					X																	53575115		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53575115G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10155C>T	X.37:g.53575115G>A						HUWE1_ENST00000262854.6_Silent_p.C3385C	p.C3385C			Q7Z6Z7	HUWE1_HUMAN			67	10612	-			3385					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.10155C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	3.037	-0.198371	0.06219	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.75	3.05	0.35203	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51228	-0.8732	4	.	.	.	.	9.5805	0.39484	0.2371:0.0:0.7629:0.0	.	.	.	.	Y	2419;223	.	.	H	-	1	0	HUWE1	53591840	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.266000	0.33039	0.230000	0.21059	-0.297000	0.09499	CAC		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	19	0	0	0	1	0	5	19				
CLDN4	1364	broad.mit.edu	37	7	73245572	73245572	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:73245572C>G	ENST00000435050.1	+	2	2721	c.41C>G	c.(40-42)gCc>gGc	p.A14G	CLDN4_ENST00000340958.2_Missense_Mutation_p.A14G|CLDN4_ENST00000431918.1_Missense_Mutation_p.A14G			O14493	CLD4_HUMAN	claudin 4	14	Interaction with EPHA2.				calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATCGCGCTGGCCGTCCTGGGC	0.657																																						ENST00000435050.1																			0				kidney(2)|lung(4)|urinary_tract(1)	7						c.(40-42)gCc>gGc		claudin 4							52.0	48.0	49.0					7																	73245572		2203	4300	6503	SO:0001583	missense	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73245572C>G	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.41C>G	7.37:g.73245572C>G	ENSP00000409544:p.Ala14Gly					CLDN4_ENST00000340958.2_Missense_Mutation_p.A14G|CLDN4_ENST00000431918.1_Missense_Mutation_p.A14G	p.A14G			O14493	CLD4_HUMAN			2	2721	+		Lung NSC(55;0.159)	14						Missense_Mutation	SNP	ENST00000435050.1	37	c.41C>G	CCDS5560.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083876	0.36758	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.88975	-2.45;-2.45;-2.45	5.31	5.31	0.75309	.	0.227149	0.44688	D	0.000428	T	0.81767	0.4892	N	0.21373	0.66	0.40618	D	0.98173	B	0.10296	0.003	B	0.17979	0.02	T	0.76418	-0.2966	10	0.14656	T	0.56	.	16.4741	0.84127	0.0:1.0:0.0:0.0	.	14	O14493	CLD4_HUMAN	G	14	ENSP00000409544:A14G;ENSP00000388639:A14G;ENSP00000342445:A14G	ENSP00000342445:A14G	A	+	2	0	CLDN4	72883508	0.544000	0.26441	1.000000	0.80357	0.972000	0.66771	1.179000	0.31993	2.496000	0.84212	0.561000	0.74099	GCC		0.657	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		8	99	0	0	0	1	0	8	99				
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(583-585)aTc>aCc	Other conserved DNA damage response genes	tumor protein p53							100.0	89.0	93.0					17																	7578265		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578265A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	p.I195T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	716	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.584T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	39	0	0	0	1	0	12	39				
PYGM	5837	broad.mit.edu	37	11	64519437	64519437	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:64519437C>T	ENST00000164139.3	-	14	2125	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	PYGM_ENST00000377432.3_Missense_Mutation_p.R488Q|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	576					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R576Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGGAGCTGTCGTTTATATTC	0.517																																						ENST00000164139.3																			1	Substitution - Missense(1)	p.R576Q(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1726-1728)cGa>cAa		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						206.0	174.0	185.0					11																	64519437		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519437C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1727G>A	11.37:g.64519437C>T	ENSP00000164139:p.Arg576Gln					PYGM_ENST00000377432.3_Missense_Mutation_p.R488Q|PYGM_ENST00000462303.1_5'UTR	p.R576Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			14	2125	-			576					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1727G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825684	0.96996	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96041	-3.89;-3.86	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000045	D	0.98826	0.9604	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99441	1.0938	10	0.87932	D	0	-18.3338	17.3513	0.87324	0.0:1.0:0.0:0.0	.	488;576	A6NDY6;P11217	.;PYGM_HUMAN	Q	488;576;557	ENSP00000366650:R488Q;ENSP00000164139:R576Q	ENSP00000164139:R576Q	R	-	2	0	PYGM	64276013	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.783000	0.85696	2.698000	0.92095	0.561000	0.74099	CGA		0.517	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		9	83	0	0	0	1	0	9	83				
KRT76	51350	broad.mit.edu	37	12	53162588	53162588	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:53162588C>A	ENST00000332411.2	-	9	1879	c.1826G>T	c.(1825-1827)gGa>gTa	p.G609V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	609	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCACTTCCTCCAGAAGTCTG	0.582																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1825-1827)gGa>gTa		keratin 76							92.0	91.0	92.0					12																	53162588		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162588C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1826G>T	12.37:g.53162588C>A	ENSP00000330101:p.Gly609Val						p.G609V	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			9	1879	-			609			Tail.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1826G>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	7.135	0.580759	0.13686	.	.	ENSG00000185069	ENST00000332411	D	0.91945	-2.94	4.81	1.8	0.24995	.	0.403035	0.18312	N	0.145093	T	0.78811	0.4342	N	0.08118	0	0.28306	N	0.922896	B	0.06786	0.001	B	0.06405	0.002	T	0.63010	-0.6732	10	0.08381	T	0.77	.	8.4921	0.33106	0.2957:0.3846:0.3197:0.0	.	609	Q01546	K22O_HUMAN	V	609	ENSP00000330101:G609V	ENSP00000330101:G609V	G	-	2	0	KRT76	51448855	0.000000	0.05858	0.979000	0.43373	0.598000	0.36846	-0.453000	0.06778	0.127000	0.18452	0.563000	0.77884	GGA		0.582	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		15	95	1	0	4.7546e-09	1	5.40836e-09	15	95				
ARFGEF2	10564	broad.mit.edu	37	20	47605195	47605195	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr20:47605195G>A	ENST00000371917.4	+	18	2529	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	843					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATCTACTAAGCAGAGTAAGG	0.323																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(2527-2529)aaG>aaA		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							61.0	59.0	60.0					20																	47605195		2203	4298	6501	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47605195G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2529G>A	20.37:g.47605195G>A							p.K843K	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		18	2529	+			843					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.2529G>A	CCDS13411.1																																																																																				0.323	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		14	64	0	0	0	1	0	14	64				
ACOT2	10965	broad.mit.edu	37	14	74036495	74036495	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr14:74036495A>G	ENST00000238651.5	+	1	733	c.551A>G	c.(550-552)cAg>cGg	p.Q184R	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	184					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.Q184R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTGCTGTGCCAGACGCGGCAC	0.736																																						ENST00000238651.5																			1	Substitution - Missense(1)	p.Q184R(1)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(550-552)cAg>cGg		acyl-CoA thioesterase 2							8.0	8.0	8.0					14																	74036495		1969	3916	5885	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036495A>G	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.551A>G	14.37:g.74036495A>G	ENSP00000238651:p.Gln184Arg					ACOT2_ENST00000538782.1_Intron	p.Q184R	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	733	+			184					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.551A>G	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.480974	0.00165	.	.	ENSG00000119673	ENST00000238651	T	0.68903	-0.36	3.38	-5.62	0.02481	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	1.593530	0.03297	N	0.188505	T	0.34250	0.0891	N	0.03903	-0.33	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46721	-0.9171	10	0.02654	T	1	-1.4083	6.8001	0.23746	0.5192:0.1242:0.3566:0.0	.	184	P49753	ACOT2_HUMAN	R	184	ENSP00000238651:Q184R	ENSP00000238651:Q184R	Q	+	2	0	ACOT2	73106248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.847000	0.04331	-1.092000	0.03062	-3.237000	0.00051	CAG		0.736	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		3	5	0	0	0	1	0	3	5				
MAGEA11	4110	broad.mit.edu	37	X	148798278	148798278	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:148798278G>A	ENST00000355220.5	+	5	1234	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.D349N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	378	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCCCGGCACTGATCCTGCATG	0.557																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1132-1134)Gat>Aat		melanoma antigen family A, 11							116.0	109.0	111.0					X																	148798278		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798278G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1132G>A	X.37:g.148798278G>A	ENSP00000347358:p.Asp378Asn					MAGEA11_ENST00000333104.4_Missense_Mutation_p.D349N	p.D378N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	1234	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		378			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1132G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	11.66	1.705663	0.30232	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05319	3.46;3.46	0.909	-0.143	0.13444	.	.	.	.	.	T	0.07007	0.0178	L	0.50993	1.605	0.09310	N	1	B;B	0.23990	0.035;0.095	B;B	0.33254	0.063;0.16	T	0.43686	-0.9376	8	.	.	.	.	4.3707	0.11246	0.0:0.4277:0.5723:0.0	.	349;378	G5E962;P43364	.;MAGAB_HUMAN	N	349;378	ENSP00000328177:D349N;ENSP00000347358:D378N	.	D	+	1	0	MAGEA11	148576127	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	-0.228000	0.09114	-0.117000	0.11872	0.377000	0.23210	GAT		0.557	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		60	227	0	0	0	1	0	60	227				
PCDH15	65217	broad.mit.edu	37	10	55943228	55943228	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:55943228C>T	ENST00000320301.6	-	13	1960	c.1566G>A	c.(1564-1566)atG>atA	p.M522I	PCDH15_ENST00000395430.1_Missense_Mutation_p.M522I|PCDH15_ENST00000414778.1_Missense_Mutation_p.M527I|PCDH15_ENST00000395433.1_Missense_Mutation_p.M500I|PCDH15_ENST00000395438.1_Missense_Mutation_p.M522I|PCDH15_ENST00000437009.1_Missense_Mutation_p.M522I|PCDH15_ENST00000409834.1_Missense_Mutation_p.M133I|PCDH15_ENST00000395432.2_Missense_Mutation_p.M485I|PCDH15_ENST00000373965.2_Missense_Mutation_p.M529I|PCDH15_ENST00000373957.3_Missense_Mutation_p.M500I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.M529I|PCDH15_ENST00000395446.1_Missense_Mutation_p.M522I|PCDH15_ENST00000361849.3_Missense_Mutation_p.M522I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.M522I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCAGGTCTCATGTCTGTAT	0.378										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(1585-1587)atG>atA		protocadherin-related 15							225.0	197.0	207.0					10																	55943228		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55943228C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1566G>A	10.37:g.55943228C>T	ENSP00000322604:p.Met522Ile	HNSCC(58;0.16)				PCDH15_ENST00000395430.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.M522I|PCDH15_ENST00000395432.2_Missense_Mutation_p.M485I|PCDH15_ENST00000414778.1_Missense_Mutation_p.M527I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.M500I|PCDH15_ENST00000395438.1_Missense_Mutation_p.M522I|PCDH15_ENST00000437009.1_Missense_Mutation_p.M522I|PCDH15_ENST00000361849.3_Missense_Mutation_p.M522I|PCDH15_ENST00000409834.1_Missense_Mutation_p.M133I|PCDH15_ENST00000373955.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395445.1_Missense_Mutation_p.M529I|PCDH15_ENST00000395446.1_Missense_Mutation_p.M522I|PCDH15_ENST00000373957.3_Missense_Mutation_p.M500I	p.M529I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			14	1981	-		Melanoma(3;0.117)|Lung SC(717;0.238)	522			Cadherin 5.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1587G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727702	0.30593	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45196	0.1330	L	0.31476	0.935	0.80722	D	1	P;B;B;B;P;P;P;B;B;B;B;B;B;B;B	0.43024	0.771;0.333;0.392;0.392;0.798;0.592;0.771;0.099;0.182;0.182;0.044;0.099;0.028;0.094;0.333	P;B;B;B;B;B;P;B;B;B;B;B;B;B;B	0.48334	0.574;0.241;0.173;0.348;0.326;0.241;0.574;0.085;0.241;0.173;0.101;0.058;0.03;0.05;0.241	T	0.42582	-0.9443	9	0.56958	D	0.05	.	12.7668	0.57396	0.1643:0.8357:0.0:0.0	.	500;522;522;527;522;485;522;522;529;529;522;527;522;500;522	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	529;527;522;522;133;529;522;485;522;500;500;522;522;527;522;522	ENSP00000363076:M529I;ENSP00000410304:M527I;ENSP00000378826:M522I;ENSP00000386693:M133I;ENSP00000378832:M529I;ENSP00000378833:M522I;ENSP00000378820:M485I;ENSP00000354950:M522I;ENSP00000378821:M500I;ENSP00000363068:M500I;ENSP00000322604:M522I;ENSP00000378818:M522I;ENSP00000412628:M522I;ENSP00000363066:M522I	ENSP00000322604:M522I	M	-	3	0	PCDH15	55613234	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	5.624000	0.67764	2.546000	0.85860	0.655000	0.94253	ATG		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		4	59	0	0	0	1	0	4	59				
RHOXF1	158800	broad.mit.edu	37	X	119249749	119249749	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:119249749G>T	ENST00000217999.2	-	1	98	c.24C>A	c.(22-24)gaC>gaA	p.D8E	RP4-755D9.1_ENST00000553843.1_RNA|GS1-421I3.4_ENST00000422226.1_lincRNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	8					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						AGAACACGGTGTCGTGGACGA	0.607																																						ENST00000217999.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(22-24)gaC>gaA		Rhox homeobox family, member 1							38.0	34.0	35.0					X																	119249749		2193	4297	6490	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249749G>T		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.24C>A	X.37:g.119249749G>T	ENSP00000217999:p.Asp8Glu					RP4-755D9.1_ENST00000553843.1_RNA	p.D8E	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN			1	98	-			8					O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.24C>A	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	g	9.047	0.991085	0.18966	.	.	ENSG00000101883	ENST00000217999	D	0.92545	-3.06	2.22	1.35	0.21983	.	.	.	.	.	D	0.84520	0.5490	N	0.24115	0.695	0.09310	N	1	P	0.40578	0.722	B	0.40825	0.341	T	0.76080	-0.3090	9	0.62326	D	0.03	-23.5381	4.4186	0.11468	0.2007:0.0:0.7993:0.0	.	8	Q8NHV9	RHXF1_HUMAN	E	8	ENSP00000217999:D8E	ENSP00000217999:D8E	D	-	3	2	RHOXF1	119133777	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.749000	0.26320	0.401000	0.25424	-0.329000	0.08387	GAC		0.607	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		21	77	1	0	8.34094e-07	1	9.14488e-07	21	77				
HAPLN1	1404	broad.mit.edu	37	5	82940357	82940357	+	Silent	SNP	G	G	A	rs369262984		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:82940357G>A	ENST00000274341.4	-	4	1450	c.600C>T	c.(598-600)ggC>ggT	p.G200G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	200	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	AGTCCAGCCCGCCCCGCCAGG	0.622																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(598-600)ggC>ggT		hyaluronan and proteoglycan link protein 1		G		1,4405	2.1+/-5.4	0,1,2202	40.0	44.0	42.0		600	-7.2	0.7	5		42	0,8600		0,0,4300	no	coding-synonymous	HAPLN1	NM_001884.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		200/355	82940357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940357G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.600C>T	5.37:g.82940357G>A							p.G200G	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1450	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	200			Link 1.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.600C>T	CCDS4061.1																																																																																				0.622	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		16	50	0	0	0	1	0	16	50				
ANKRD11	29123	broad.mit.edu	37	16	89351378	89351378	+	Silent	SNP	C	C	A	rs367826651		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:89351378C>A	ENST00000301030.4	-	9	2032	c.1572G>T	c.(1570-1572)tcG>tcT	p.S524S	ANKRD11_ENST00000378330.2_Silent_p.S524S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	524	Ser-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCCGTGAGACGAGGTGGAGG	0.622																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1570-1572)tcG>tcT		ankyrin repeat domain 11							41.0	46.0	44.0					16																	89351378		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89351378C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1572G>T	16.37:g.89351378C>A						ANKRD11_ENST00000378330.2_Silent_p.S524S	p.S524S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2032	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	524			Ser-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.1572G>T	CCDS32513.1																																																																																				0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		4	68	1	0	0.000602214	1	0.000622744	4	68				
SYNE4	163183	broad.mit.edu	37	19	36499487	36499487	+	Missense_Mutation	SNP	C	C	G	rs200926652		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:36499487C>G	ENST00000324444.3	-	1	208	c.97G>C	c.(97-99)Gtc>Ctc	p.V33L	SYNE4_ENST00000340477.5_Missense_Mutation_p.V33L|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_5'Flank	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	33					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											GCGGGGCAGACGGTGCATCCA	0.652																																						ENST00000324444.3																			0											c.(97-99)Gtc>Ctc		spectrin repeat containing, nuclear envelope family member 4							67.0	73.0	71.0					19																	36499487		1986	4161	6147	SO:0001583	missense	163183							g.chr19:36499487C>G	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.97G>C	19.37:g.36499487C>G	ENSP00000316130:p.Val33Leu					SYNE4_ENST00000340477.5_Missense_Mutation_p.V33L	p.V33L	NM_001039876.1	NP_001034965.1					1	208	-								A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	c.97G>C	CCDS42553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.738|6.738	0.504889|0.504889	0.12822|0.12822	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000397428|ENST00000340477;ENST00000324444;ENST00000490730	.|T;T;T	.|0.53206	.|1.34;1.35;0.63	3.93|3.93	-2.84|-2.84	0.05751|0.05751	.|.	.|1.952780	.|0.01823	.|N	.|0.034169	T|T	0.32734|0.32734	0.0839|0.0839	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.28419	.|0.001;0.211;0.0	.|B;B;B	.|0.25506	.|0.002;0.061;0.001	T|T	0.25537|0.25537	-1.0129|-1.0129	6|10	0.72032|0.54805	D|T	0.01|0.06	-21.4633|-21.4633	6.355|6.355	0.21397|0.21397	0.0:0.5269:0.1721:0.301|0.0:0.5269:0.1721:0.301	.|.	.|33;33;33	.|Q8N205-2;D6RAE3;Q8N205	.|.;.;SYNE4_HUMAN	P|L	3|33	.|ENSP00000343152:V33L;ENSP00000316130:V33L;ENSP00000422716:V33L	ENSP00000380572:R3P|ENSP00000316130:V33L	R|V	-|-	2|1	0|0	C19orf46|C19orf46	41191327|41191327	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.355000|-1.355000	0.02612|0.02612	-0.652000|-0.652000	0.05408|0.05408	-0.345000|-0.345000	0.07892|0.07892	CGT|GTC		0.652	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		10	166	0	0	0	1	0	10	166				
KLHL13	90293	broad.mit.edu	37	X	117054245	117054245	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:117054245A>G	ENST00000262820.3	-	3	1238	c.329T>C	c.(328-330)gTc>gCc	p.V110A	KLHL13_ENST00000371878.1_Missense_Mutation_p.V59A|KLHL13_ENST00000540167.1_Missense_Mutation_p.V94A|KLHL13_ENST00000539496.1_Missense_Mutation_p.V113A|KLHL13_ENST00000469946.1_Missense_Mutation_p.V59A|KLHL13_ENST00000371882.1_Missense_Mutation_p.V59A|KLHL13_ENST00000541812.1_Missense_Mutation_p.V94A|KLHL13_ENST00000545703.1_Missense_Mutation_p.V68A|KLHL13_ENST00000371876.1_Missense_Mutation_p.V59A	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	110	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCCATCATGACTCTATGCAC	0.418																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(175-177)gTc>gCc		kelch-like family member 13							197.0	157.0	171.0					X																	117054245		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117054245A>G	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.329T>C	X.37:g.117054245A>G	ENSP00000262820:p.Val110Ala					KLHL13_ENST00000371882.1_Missense_Mutation_p.V59A|KLHL13_ENST00000469946.1_Missense_Mutation_p.V59A|KLHL13_ENST00000545703.1_Missense_Mutation_p.V68A|KLHL13_ENST00000540167.1_Missense_Mutation_p.V94A|KLHL13_ENST00000262820.3_Missense_Mutation_p.V110A|KLHL13_ENST00000539496.1_Missense_Mutation_p.V113A|KLHL13_ENST00000541812.1_Missense_Mutation_p.V94A|KLHL13_ENST00000371878.1_Missense_Mutation_p.V59A	p.V59A			Q9P2N7	KLH13_HUMAN			2	2597	-			110					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.176T>C	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	a	5.225	0.227058	0.09916	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.83	3.66	0.41972	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.169560	0.51477	D	0.000099	T	0.38054	0.1026	N	0.16790	0.44	0.31258	N	0.69325	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.002;0.003	T	0.21245	-1.0251	10	0.26408	T	0.33	.	3.21	0.06678	0.5945:0.0:0.4055:0.0	.	94;113;104;110	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	A	59;59;59;59;94;94;113;110;68;59	ENSP00000360949:V59A;ENSP00000360943:V59A;ENSP00000360945:V59A;ENSP00000412640:V59A;ENSP00000444450:V94A;ENSP00000441029:V94A;ENSP00000443191:V113A;ENSP00000262820:V110A;ENSP00000440707:V68A;ENSP00000419803:V59A	ENSP00000262820:V110A	V	-	2	0	KLHL13	116938273	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.316000	0.72857	1.779000	0.52309	0.438000	0.28831	GTC		0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		27	95	0	0	0	1	0	27	95				
BZRAP1	9256	broad.mit.edu	37	17	56386441	56386441	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:56386441C>T	ENST00000343736.4	-	22	4355	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1338R|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G1398R			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1398						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAACTAATCCAGGCATGTCT	0.652																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4192-4194)Gga>Aga		benzodiazapine receptor (peripheral) associated protein 1							78.0	88.0	84.0					17																	56386441		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386441C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4192G>A	17.37:g.56386441C>T	ENSP00000345824:p.Gly1398Arg					BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1338R|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1398R	p.G1398R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	5062	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1398					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4192G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833153	0.50951	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04275	3.66;3.66;3.67	5.31	3.19	0.36642	.	0.237237	0.38720	N	0.001599	T	0.07863	0.0197	L	0.27053	0.805	0.09310	N	1	B;D;D	0.89917	0.022;1.0;1.0	B;D;D	0.97110	0.008;1.0;0.999	T	0.33497	-0.9866	10	0.37606	T	0.19	.	2.5437	0.04732	0.2043:0.5167:0.1718:0.1073	.	1398;1338;1398	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	R	1398;1398;1338	ENSP00000347929:G1398R;ENSP00000345824:G1398R;ENSP00000268893:G1338R	ENSP00000268893:G1338R	G	-	1	0	BZRAP1	53741440	0.005000	0.15991	0.321000	0.25320	0.905000	0.53344	0.539000	0.23175	2.487000	0.83934	0.563000	0.77884	GGA		0.652	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		46	104	0	0	0	1	0	46	104				
PHACTR3	116154	broad.mit.edu	37	20	58348375	58348375	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr20:58348375G>A	ENST00000371015.1	+	6	1260	c.793G>A	c.(793-795)Gac>Aac	p.D265N	PHACTR3_ENST00000361300.4_Missense_Mutation_p.D154N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D262N|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D224N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D224N|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D224N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D154N	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	265						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GAAGAGTGCCGACCCTTCCCT	0.627																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(793-795)Gac>Aac		phosphatase and actin regulator 3							87.0	85.0	85.0					20																	58348375		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348375G>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.793G>A	20.37:g.58348375G>A	ENSP00000360054:p.Asp265Asn					PHACTR3_ENST00000541461.1_Missense_Mutation_p.D224N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D262N|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D224N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D224N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D154N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D154N	p.D265N	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1260	+	all_lung(29;0.00344)		265					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.793G>A	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	7.729	0.698739	0.15106	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.29142	1.98;1.99;1.58;1.99;1.99;1.99;1.58	5.13	5.13	0.70059	.	0.636018	0.17939	N	0.156920	T	0.22975	0.0555	L	0.36672	1.1	0.21933	N	0.999465	P;B;P	0.42993	0.683;0.414;0.797	B;B;B	0.30572	0.115;0.054;0.117	T	0.15694	-1.0428	10	0.31617	T	0.26	-9.9869	17.5855	0.87980	0.0:0.0:1.0:0.0	.	154;265;262	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	N	262;265;154;224;224;224;154	ENSP00000353002:D262N;ENSP00000360054:D265N;ENSP00000379001:D154N;ENSP00000442483:D224N;ENSP00000347866:D224N;ENSP00000378998:D224N;ENSP00000354555:D154N	ENSP00000347866:D224N	D	+	1	0	PHACTR3	57781770	1.000000	0.71417	0.470000	0.27216	0.009000	0.06853	5.552000	0.67281	2.389000	0.81357	0.655000	0.94253	GAC		0.627	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		5	162	0	0	0	1	0	5	162				
NDN	4692	broad.mit.edu	37	15	23931765	23931765	+	Silent	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:23931765C>G	ENST00000331837.4	-	1	685	c.600G>C	c.(598-600)gtG>gtC	p.V200V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	200	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGCGGCCCTTCACGTAGATGA	0.662									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(598-600)gtG>gtC		necdin, melanoma antigen (MAGE) family member							25.0	25.0	25.0					15																	23931765		2196	4291	6487	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931765C>G	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.600G>C	15.37:g.23931765C>G							p.V200V	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	685	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	200			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.600G>C	CCDS10014.1																																																																																				0.662	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		12	46	0	0	0	1	0	12	46				
PCDHGA6	56109	broad.mit.edu	37	5	140754980	140754980	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:140754980G>A	ENST00000517434.1	+	1	1330	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGTGGCAGACACCAACGA	0.498																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1330-1332)Gac>Aac									135.0	148.0	143.0					5																	140754980		2123	4258	6381	SO:0001583	missense	0							g.chr5:140754980G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1330G>A	5.37:g.140754980G>A	ENSP00000429601:p.Asp444Asn					PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.D444N	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1330	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1330G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.738785	0.89573	.	.	ENSG00000253731	ENST00000517434	D	0.84298	-1.83	5.13	5.13	0.70059	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.32028	U	0.006682	D	0.94611	0.8263	M	0.93898	3.47	0.39781	D	0.972291	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95855	0.8878	10	0.87932	D	0	.	19.1356	0.93426	0.0:0.0:1.0:0.0	.	444;444	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	N	444	ENSP00000429601:D444N	ENSP00000429601:D444N	D	+	1	0	PCDHGA6	140735164	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	GAC		0.498	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		23	161	0	0	0	1	0	23	161				
ZNF567	163081	broad.mit.edu	37	19	37210154	37210154	+	Silent	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:37210154T>C	ENST00000536254.2	+	6	750	c.528T>C	c.(526-528)acT>acC	p.T176T	ZNF567_ENST00000392163.2_Silent_p.T145T|ZNF567_ENST00000588311.1_Silent_p.T145T|ZNF567_ENST00000585696.1_Silent_p.T145T|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Silent_p.T145T			Q8N184	ZN567_HUMAN	zinc finger protein 567	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACAAGAGACTACTCATCCTG	0.368																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(433-435)acT>acC		zinc finger protein 567							55.0	53.0	54.0					19																	37210154		2203	4299	6502	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210154T>C	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.528T>C	19.37:g.37210154T>C						ZNF567_ENST00000588311.1_Silent_p.T145T|ZNF567_ENST00000536254.2_Silent_p.T176T|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.T145T|ZNF567_ENST00000360729.4_Silent_p.T145T	p.T145T			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1665	+	Esophageal squamous(110;0.198)		176					B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.435T>C																																																																																					0.368	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		12	46	0	0	0	1	0	12	46				
NEDD4	4734	broad.mit.edu	37	15	56209012	56209012	+	Silent	SNP	T	T	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:56209012T>A	ENST00000508342.1	-	1	317	c.18A>T	c.(16-18)cgA>cgT	p.R6R	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Silent_p.R6R|NEDD4_ENST00000338963.2_Silent_p.R6R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	6					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAAGTGCAATCGTAAGCTTT	0.443																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(16-18)cgA>cgT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							127.0	128.0	128.0					15																	56209012		2193	4290	6483	SO:0001819	synonymous_variant	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56209012T>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.18A>T	15.37:g.56209012T>A						NEDD4_ENST00000506154.1_Silent_p.R6R|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.R6R	p.R6R			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	317	-			6					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.18A>T																																																																																					0.443	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		11	101	0	0	0	1	0	11	101				
NACA	4666	broad.mit.edu	37	12	57111096	57111096	+	Silent	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:57111096T>C	ENST00000454682.1	-	3	4499	c.4218A>G	c.(4216-4218)gcA>gcG	p.A1406A	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1406	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGGAATCACTGCTGGGGAAG	0.597			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(4216-4218)gcA>gcG		nascent polypeptide-associated complex alpha subunit							20.0	21.0	21.0					12																	57111096		1566	3581	5147	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111096T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4218A>G	12.37:g.57111096T>C						NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron	p.A1406A	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4499	-			0						Silent	SNP	ENST00000454682.1	37	c.4218A>G																																																																																					0.597	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		12	26	0	0	0	1	0	12	26				
HP1BP3	50809	broad.mit.edu	37	1	21100010	21100010	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:21100010C>A	ENST00000312239.5	-	5	583	c.444G>T	c.(442-444)caG>caT	p.Q148H	HP1BP3_ENST00000487117.1_5'Flank|HP1BP3_ENST00000375003.2_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	148					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GTGTTTGTTTCTGGGCCCTGG	0.423																																						ENST00000312239.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(442-444)caG>caT		heterochromatin protein 1, binding protein 3							115.0	115.0	115.0					1																	21100010		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21100010C>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.444G>T	1.37:g.21100010C>A	ENSP00000312625:p.Gln148His					HP1BP3_ENST00000375003.2_5'UTR	p.Q148H	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	5	583	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	148					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.444G>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179607	0.78564	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T	0.49139	0.79;1.8;1.82	6.16	5.26	0.73747	.	0.179246	0.52532	D	0.000080	T	0.56630	0.1998	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.994;0.992	P;D	0.72075	0.902;0.976	T	0.61412	-0.7068	10	0.66056	D	0.02	-12.6949	15.548	0.76123	0.0:0.9344:0.0:0.0656	.	110;148	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	H	148;110;34;148;110	ENSP00000312625:Q148H;ENSP00000403039:Q148H;ENSP00000402754:Q110H	ENSP00000312625:Q148H	Q	-	3	2	HP1BP3	20972597	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.116000	0.57871	1.632000	0.50472	-0.142000	0.14014	CAG		0.423	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		17	44	1	0	4.75885e-15	1	5.77407e-15	17	44				
KLB	152831	broad.mit.edu	37	4	39408897	39408897	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:39408897T>C	ENST00000257408.4	+	1	425	c.328T>C	c.(328-330)Tgg>Cgg	p.W110R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	110	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACCTTCTATATGGGATCATTT	0.413																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(328-330)Tgg>Cgg		klotho beta							72.0	77.0	75.0					4																	39408897		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39408897T>C	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.328T>C	4.37:g.39408897T>C	ENSP00000257408:p.Trp110Arg						p.W110R	NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN			1	425	+			110			Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.328T>C	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368538	0.61624	.	.	ENSG00000134962	ENST00000257408	T	0.48201	0.82	4.29	4.29	0.51040	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80065	0.4555	H	0.98594	4.275	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87667	0.2538	10	0.87932	D	0	-10.9528	13.7014	0.62611	0.0:0.0:0.0:1.0	.	110;110	B7ZL50;Q86Z14	.;KLOTB_HUMAN	R	110	ENSP00000257408:W110R	ENSP00000257408:W110R	W	+	1	0	KLB	39085292	1.000000	0.71417	0.980000	0.43619	0.822000	0.46500	7.997000	0.88414	1.699000	0.51192	0.383000	0.25322	TGG		0.413	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		16	43	0	0	0	1	0	16	43				
PLA2R1	22925	broad.mit.edu	37	2	160801542	160801542	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:160801542C>A	ENST00000283243.7	-	28	4225	c.4019G>T	c.(4018-4020)gGc>gTc	p.G1340V	PLA2R1_ENST00000460710.1_5'Flank	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1340	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCCGAATGCCCCAGTTTGA	0.433																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4018-4020)gGc>gTc		phospholipase A2 receptor 1, 180kDa							108.0	94.0	99.0					2																	160801542		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801542C>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4019G>T	2.37:g.160801542C>A	ENSP00000283243:p.Gly1340Val						p.G1340V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4225	-			1340			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.4019G>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534567	0.64972	.	.	ENSG00000153246	ENST00000283243	T	0.17691	2.26	5.75	4.87	0.63330	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.212047	0.40908	D	0.000985	T	0.32823	0.0842	L	0.60067	1.865	0.80722	D	1	P;D	0.67145	0.899;0.996	P;P	0.60345	0.665;0.873	T	0.02805	-1.1108	9	.	.	.	.	13.331	0.60488	0.0:0.9268:0.0:0.0732	.	1338;1340	B7ZML4;Q13018	.;PLA2R_HUMAN	V	1340	ENSP00000283243:G1340V	.	G	-	2	0	PLA2R1	160509788	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	2.473000	0.45145	1.566000	0.49654	0.650000	0.86243	GGC		0.433	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			13	35	1	0	7.03913e-09	1	7.90815e-09	13	35				
MT-ND5	4540	broad.mit.edu	37	M	12925	12925	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrM:12925G>A	ENST00000361567.2	+	1	589	c.589G>A	c.(589-591)Gac>Aac	p.D197N	MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	197					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCAACTCATGAGACCCACAAC	0.498																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(589-591)Gac>Aac		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12925G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.589G>A	M.37:g.12925G>A	ENSP00000354813:p.Asp197Asn						p.D197N			P03915	NU5M_HUMAN			1	589	+			197					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.589G>A																																																																																					0.498	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		51	125	0	0	0	1	0	51	125				
TUBA4B	80086	broad.mit.edu	37	2	220134932	220134932	+	RNA	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:220134932C>G	ENST00000490341.1	+	0	232					NR_003063.1		Q9H853	TBA4B_HUMAN	tubulin, alpha 4b (pseudogene)						microtubule-based process (GO:0007017)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|structural constituent of cytoskeleton (GO:0005200)										AGGCACATACCGCCAGATCTT	0.557																																						ENST00000490341.1																			0																																																			0							g.chr2:220134932C>G	AK024002		2q35	2014-03-20	2007-03-16	2007-02-12	ENSG00000243910	ENSG00000243910		"""Tubulins"""	18637	pseudogene	pseudogene			"""tubulin, alpha 4"", ""tubulin, alpha 4b"""	TUBA4		3785200	Standard	NR_003063		Approved	FLJ13940	uc002vkv.1	Q9H853	OTTHUMG00000154516		2.37:g.220134932C>G								NR_003063.1						0	232	+									RNA	SNP	ENST00000490341.1	37																																																																																						0.557	TUBA4B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000335637.1	NR_003063		4	12	0	0	0	1	0	4	12				
FCGBP	8857	broad.mit.edu	37	19	40374023	40374023	+	Missense_Mutation	SNP	C	C	T	rs561293450	byFrequency	TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:40374023C>T	ENST00000221347.6	-	26	12062	c.12055G>A	c.(12055-12057)Gtg>Atg	p.V4019M	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4019	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCACACCACGACTTTACCC	0.642													C|||	36	0.0071885	0.0121	0.0029	5008	,	,		23567	0.004		0.0119	False		,,,				2504	0.002					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12055-12057)Gtg>Atg		Fc fragment of IgG binding protein							13.0	14.0	13.0					19																	40374023		2141	4205	6346	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40374023C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12055G>A	19.37:g.40374023C>T	ENSP00000221347:p.Val4019Met						p.V4019M	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		26	12062	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4019			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12055G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	6.436	0.448534	0.12223	.	.	ENSG00000090920	ENST00000221347	T	0.06608	3.28	2.99	-5.98	0.02220	von Willebrand factor, type C (1);	.	.	.	.	T	0.03520	0.0101	L	0.31476	0.935	0.09310	N	1	B	0.29766	0.256	B	0.14578	0.011	T	0.30060	-0.9991	9	0.34782	T	0.22	.	6.2908	0.21059	0.0:0.3427:0.2739:0.3834	.	4019	Q9Y6R7	FCGBP_HUMAN	M	4019	ENSP00000221347:V4019M	ENSP00000221347:V4019M	V	-	1	0	FCGBP	45065863	0.000000	0.05858	0.010000	0.14722	0.077000	0.17291	-1.245000	0.02899	-1.918000	0.01072	-0.680000	0.03767	GTG		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	24	0	0	0	1	0	4	24				
CYP2F1	1572	broad.mit.edu	37	19	41628015	41628015	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:41628015T>A	ENST00000331105.2	+	6	871	c.799T>A	c.(799-801)Tgc>Agc	p.C267S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	267					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.C267R(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CTTCATCCAGTGCTTCCTCAC	0.572																																						ENST00000331105.2																			2	Substitution - Missense(2)	p.C267R(2)	liver(2)	central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(799-801)Tgc>Agc		cytochrome P450, family 2, subfamily F, polypeptide 1							49.0	47.0	48.0					19																	41628015		2055	4162	6217	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41628015T>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.799T>A	19.37:g.41628015T>A	ENSP00000333534:p.Cys267Ser						p.C267S	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			6	871	+			267					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.799T>A	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	N	1.040	-0.678999	0.03378	.	.	ENSG00000197446	ENST00000331105	T	0.67345	-0.26	3.27	3.27	0.37495	.	0.107186	0.64402	U	0.000004	T	0.55481	0.1923	L	0.31845	0.965	0.28794	N	0.899131	P;B;B	0.40731	0.728;0.211;0.036	P;B;B	0.45998	0.5;0.11;0.028	T	0.48422	-0.9037	10	0.27785	T	0.31	.	5.6645	0.17687	0.2421:0.0:0.0:0.7578	.	53;267;267	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	S	267	ENSP00000333534:C267S	ENSP00000333534:C267S	C	+	1	0	CYP2F1	46319855	0.000000	0.05858	0.779000	0.31741	0.025000	0.11179	0.093000	0.15086	1.345000	0.45676	0.335000	0.21663	TGC		0.572	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			15	18	0	0	0	1	0	15	18				
TRPC6	7225	broad.mit.edu	37	11	101362360	101362360	+	Missense_Mutation	SNP	G	G	A	rs200661450		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:101362360G>A	ENST00000344327.3	-	3	1479	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	TRPC6_ENST00000532133.1_Missense_Mutation_p.T352M|TRPC6_ENST00000360497.4_Missense_Mutation_p.T352M|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	352					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACTCTGGAGCGTTTCAACATC	0.438																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1054-1056)aCg>aTg		transient receptor potential cation channel, subfamily C, member 6							133.0	131.0	132.0					11																	101362360		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101362360G>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1055C>T	11.37:g.101362360G>A	ENSP00000340913:p.Thr352Met					TRPC6_ENST00000532133.1_Missense_Mutation_p.T352M|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.T352M	p.T352M	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1479	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	352					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1055C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	5.689	0.311764	0.10789	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.63417	-0.04;-0.04;-0.04	6.14	-2.33	0.06724	.	0.938795	0.09170	N	0.838944	T	0.47930	0.1472	N	0.25201	0.72	0.09310	N	1	B;B	0.17038	0.012;0.02	B;B	0.15484	0.013;0.006	T	0.27400	-1.0075	10	0.36615	T	0.2	-2.7408	15.5899	0.76521	0.3908:0.0:0.6092:0.0	.	352;352	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	M	352	ENSP00000340913:T352M;ENSP00000435574:T352M;ENSP00000353687:T352M	ENSP00000340913:T352M	T	-	2	0	TRPC6	100867570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.034000	0.12225	-0.647000	0.05444	-0.156000	0.13503	ACG		0.438	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		26	61	0	0	0	1	0	26	61				
ENPEP	2028	broad.mit.edu	37	4	111430866	111430866	+	Missense_Mutation	SNP	C	C	T	rs151125401		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:111430866C>T	ENST00000265162.5	+	5	1439	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	366					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GGACTCATCACGTACAGAGAA	0.453																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1096-1098)aCg>aTg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)	C	MET/THR	0,4406		0,0,2203	160.0	150.0	154.0		1097	4.9	0.8	4	dbSNP_134	154	2,8598	2.2+/-6.3	0,2,4298	no	missense	ENPEP	NM_001977.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	366/958	111430866	2,13004	2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111430866C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1097C>T	4.37:g.111430866C>T	ENSP00000265162:p.Thr366Met						p.T366M	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	5	1439	+		Hepatocellular(203;0.217)	366					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1097C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849347	0.51270	0.0	2.33E-4	ENSG00000138792	ENST00000265162	T	0.04156	3.69	5.76	4.92	0.64577	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.084143	0.85682	D	0.000000	T	0.26774	0.0655	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11616	-1.0580	10	0.87932	D	0	.	14.8213	0.70074	0.0:0.9308:0.0:0.0692	.	366	Q07075	AMPE_HUMAN	M	366	ENSP00000265162:T366M	ENSP00000265162:T366M	T	+	2	0	ENPEP	111650315	1.000000	0.71417	0.777000	0.31699	0.003000	0.03518	7.779000	0.85648	1.432000	0.47375	-0.140000	0.14226	ACG		0.453	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			15	90	0	0	0	1	0	15	90				
LYPLA2	11313	broad.mit.edu	37	1	24120731	24120731	+	Silent	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:24120731C>G	ENST00000374514.3	+	8	694	c.387C>G	c.(385-387)ctC>ctG	p.L129L	LYPLA2_ENST00000374505.2_Missense_Mutation_p.L105V|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000400061.1_Missense_Mutation_p.L105V|LYPLA2_ENST00000374503.3_Silent_p.L129L|LYPLA2_ENST00000374501.1_Silent_p.L62L|LYPLA2_ENST00000374502.3_Silent_p.L129L	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	129					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCCTGTCCCTCTACACGGCCC	0.701																																						ENST00000400061.1																			0				endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(313-315)Cta>Gta		lysophospholipase II							28.0	33.0	31.0					1																	24120731		2202	4298	6500	SO:0001819	synonymous_variant	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24120731C>G	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.387C>G	1.37:g.24120731C>G						LYPLA2_ENST00000374514.3_Silent_p.L129L|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374505.2_Missense_Mutation_p.L105V|LYPLA2_ENST00000374501.1_Silent_p.L62L|LYPLA2_ENST00000374503.3_Silent_p.L129L|LYPLA2_ENST00000374502.3_Silent_p.L129L	p.L105V			O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	7	434	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	0					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.313C>G	CCDS241.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133836	0.09032	.	.	ENSG00000011009	ENST00000400061;ENST00000374505	.	.	.	5.0	1.71	0.24356	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	.	.	.	0.22903	N	0.998583	B	0.02656	0.0	B	0.01281	0.0	T	0.31779	-0.9931	8	0.45353	T	0.12	.	10.6809	0.45813	0.0:0.5064:0.4122:0.0815	.	105	Q5QPN9	.	V	105	.	ENSP00000363629:L105V	L	+	1	2	LYPLA2	23993318	0.987000	0.35691	1.000000	0.80357	0.642000	0.38348	0.078000	0.14761	1.061000	0.40601	0.462000	0.41574	CTA		0.701	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			4	25	0	0	0	1	0	4	25				
OR1L8	138881	broad.mit.edu	37	9	125330723	125330723	+	Missense_Mutation	SNP	C	C	T	rs143007621		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:125330723C>T	ENST00000304865.2	-	1	115	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGATAAACTCGGAGACACTG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20099	0.0		0.001	False		,,,				2504	0.0					ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(34-36)Gag>Aag		olfactory receptor, family 1, subfamily L, member 8		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	126.0	155.0	145.0		34	2.6	1.0	9	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1L8	NM_001004454.1	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	12/310	125330723	2,13004	2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330723C>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.34G>A	9.37:g.125330723C>T	ENSP00000306607:p.Glu12Lys						p.E12K	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	115	-			12					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.34G>A	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646941	0.67358	2.27E-4	1.16E-4	ENSG00000171496	ENST00000304865	T	0.01119	5.31	4.49	2.56	0.30785	.	0.155013	0.29737	N	0.011333	T	0.03434	0.0099	M	0.80616	2.505	0.28608	N	0.908833	D	0.57571	0.98	P	0.48901	0.594	T	0.09250	-1.0683	10	0.66056	D	0.02	-16.3323	12.2532	0.54610	0.0:0.671:0.329:0.0	.	12	Q8NGR8	OR1L8_HUMAN	K	12	ENSP00000306607:E12K	ENSP00000306607:E12K	E	-	1	0	OR1L8	124370544	0.000000	0.05858	0.973000	0.42090	0.848000	0.48234	0.158000	0.16422	0.612000	0.30071	0.449000	0.29647	GAG		0.458	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			4	61	0	0	0	1	0	4	61				
RSBN1L	222194	broad.mit.edu	37	7	77378907	77378907	+	Silent	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:77378907A>G	ENST00000334955.8	+	3	897	c.870A>G	c.(868-870)caA>caG	p.Q290Q	RSBN1L_ENST00000445288.1_Silent_p.Q20Q	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	290						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGAAGATCAAGCAGCCAAAG	0.368																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(868-870)caA>caG		round spermatid basic protein 1-like							107.0	99.0	101.0					7																	77378907		1854	4113	5967	SO:0001819	synonymous_variant	222194					nucleus		g.chr7:77378907A>G	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.870A>G	7.37:g.77378907A>G						RSBN1L_ENST00000445288.1_Silent_p.Q20Q	p.Q290Q	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			3	897	+			290					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Silent	SNP	ENST00000334955.8	37	c.870A>G	CCDS43607.1																																																																																				0.368	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		10	73	0	0	0	1	0	10	73				
CILP2	148113	broad.mit.edu	37	19	19654969	19654969	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:19654969C>G	ENST00000291495.5	+	8	1700	c.1615C>G	c.(1615-1617)Cct>Gct	p.P539A	CILP2_ENST00000586018.1_Missense_Mutation_p.P545A	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	539						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.P539S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGTCTTGCCTTTTGATCC	0.602																																						ENST00000586018.1																			1	Substitution - Missense(1)	p.P539S(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1633-1635)Cct>Gct		cartilage intermediate layer protein 2							47.0	50.0	49.0					19																	19654969		2202	4300	6502	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654969C>G	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1615C>G	19.37:g.19654969C>G	ENSP00000291495:p.Pro539Ala					CILP2_ENST00000291495.4_Missense_Mutation_p.P539A	p.P545A			Q8IUL8	CILP2_HUMAN			8	1735	+			539					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1633C>G	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284777	0.40394	.	.	ENSG00000160161	ENST00000291495	T	0.48201	0.82	3.77	3.77	0.43336	Carbohydrate-binding-like fold (1);	0.141721	0.46442	D	0.000281	T	0.63546	0.2520	M	0.64404	1.975	0.31863	N	0.620709	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.962	T	0.71119	-0.4685	10	0.62326	D	0.03	-12.2858	13.1452	0.59456	0.0:1.0:0.0:0.0	.	539;539	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	A	539	ENSP00000291495:P539A	ENSP00000291495:P539A	P	+	1	0	CILP2	19515969	1.000000	0.71417	0.989000	0.46669	0.487000	0.33371	3.112000	0.50368	1.662000	0.50781	0.430000	0.28490	CCT		0.602	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		16	90	0	0	0	1	0	16	90				
GLCE	26035	broad.mit.edu	37	15	69553589	69553589	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:69553589G>C	ENST00000261858.2	+	4	978	c.750G>C	c.(748-750)tgG>tgC	p.W250C	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.W186C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	250					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CTAATGACTGGACTGTGCCAA	0.393																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(748-750)tgG>tgC		glucuronic acid epimerase							163.0	156.0	158.0					15																	69553589		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69553589G>C	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.750G>C	15.37:g.69553589G>C	ENSP00000261858:p.Trp250Cys					GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.W186C	p.W250C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			4	978	+			250					Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.750G>C	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983556	0.74474	.	.	ENSG00000138604	ENST00000261858	T	0.35236	1.32	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.67356	-0.5691	10	0.87932	D	0	-16.9933	18.7779	0.91918	0.0:0.0:1.0:0.0	.	250	O94923	GLCE_HUMAN	C	250	ENSP00000261858:W250C	ENSP00000261858:W250C	W	+	3	0	GLCE	67340643	1.000000	0.71417	0.972000	0.41901	0.917000	0.54804	9.690000	0.98676	2.773000	0.95371	0.591000	0.81541	TGG		0.393	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		17	88	0	0	0	1	0	17	88				
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	68						7	68	---	---	---	---
ANKRD20A8P	729171	broad.mit.edu	37	2	95513688	95513689	+	RNA	INS	-	-	TA			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:95513688_95513689insTA	ENST00000432432.2	-	0	850				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTCACCTAATGTATAAGATGGA	0.327																																						ENST00000432432.2																			0																																																			0							g.chr2:95513688_95513689insTA			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95513691_95513692dupTA								NR_040113.1						0	850	-								A6NC18	RNA	INS	ENST00000432432.2	37																																																																																						0.327	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			7	96						7	96	---	---	---	---
IGFBP1	3484	broad.mit.edu	37	7	45928490	45928490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:45928490delG	ENST00000275525.3	+	1	535	c.239delG	c.(238-240)cggfs	p.R80fs	IGFBP1_ENST00000468955.1_Frame_Shift_Del_p.R80fs|IGFBP1_ENST00000457280.1_Frame_Shift_Del_p.R80fs	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						CGCTGCGCCCGGGGACTCAGT	0.756																																						ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(238-240)cgfs		insulin-like growth factor binding protein 1							2.0	3.0	2.0					7																	45928490		1521	3221	4742	SO:0001589	frameshift_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45928490delG		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"""placental protein 12"", ""amniotic fluid binding protein"", ""alpha-pregnancy-associated endometrial globulin"", ""growth hormone independent-binding protein"", ""binding protein-28"", ""binding protein-26"", ""binding protein-25"", ""IGF-binding protein 1"""	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.239delG	7.37:g.45928490delG	ENSP00000275525:p.Arg80fs					IGFBP1_ENST00000457280.1_Frame_Shift_Del_p.R80fs|IGFBP1_ENST00000468955.1_Frame_Shift_Del_p.R80fs	p.R80fs	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN			1	535	+			80			IGFBP N-terminal.		A4D2F4|D3DVL9|Q8IYP5	Frame_Shift_Del	DEL	ENST00000275525.3	37	c.239delG	CCDS5504.1																																																																																				0.756	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		2	4						2	4	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40715923	40715924	+	lincRNA	DEL	AA	AA	-	rs374953827|rs62565543	byFrequency	TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:40715923_40715924delAA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GAAGACGTGGAAAGAGCTCAGA	0.569																																						ENST00000604146.1																			0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10																																														0							g.chr9:40715923_40715924delAA																													9.37:g.40715923_40715924delAA								NR_026801.1					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	262_263	+									RNA	DEL	ENST00000432614.1	37																																																																																						0.569	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			7	39						7	39	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63533589	63533591	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:63533589_63533591delTGG	ENST00000375702.5	-	5	1671_1673	c.1563_1565delCCA	c.(1561-1566)caccat>cat	p.521_522HH>H	AXIN2_ENST00000307078.5_In_Frame_Del_p.521_522HH>H			Q9Y2T1	AXIN2_HUMAN	axin 2	521					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGGACGGCATGGTGGTGGATGT	0.655									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1561-1566)cat>ca		axin 2																																				SO:0001651	inframe_deletion	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63533589_63533591delTGG	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1563_1565delCCA	17.37:g.63533595_63533597delTGG	ENSP00000364854:p.His522del					AXIN2_ENST00000375702.5_In_Frame_Del_p.HH521del	p.HH521del	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			6	1876_1878	-			521					Q3MJ88|Q9H3M6|Q9UH84	In_Frame_Del	DEL	ENST00000375702.5	37	c.1563_1565delCCA																																																																																					0.655	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		7	94						7	94	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48573424	48573425	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr18:48573424_48573425delAT	ENST00000342988.3	+	2	546_547	c.8_9delAT	c.(7-9)aatfs	p.N3fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.N3fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	3					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAAATGGACAATATGTCTATTA	0.356																																						ENST00000342988.3																			41	Whole gene deletion(36)|Unknown(5)	p.0?(36)|p.?(5)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(7-9)afs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48573424_48573425delAT	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.8_9delAT	18.37:g.48573426_48573427delAT	ENSP00000341551:p.Asn3fs					RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_Frame_Shift_Del_p.N3fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.N3fs	p.N3fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	2	546_547	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	3					A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.8_9delAT	CCDS11950.1																																																																																				0.356	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		11	20						11	20	---	---	---	---
KPTN	11133	broad.mit.edu	37	19	47987546	47987546	+	5'Flank	DEL	G	G	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:47987546delG	ENST00000338134.3	-	0	0				NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA|KPTN_ENST00000595484.1_5'Flank|KPTN_ENST00000536339.1_5'Flank	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)						actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GGAAGCTGCCGGCGTTGCCCT	0.682											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000593284.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr19:47987546delG	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443		19.37:g.47987546delG	Exception_encountered		OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	951									0	8	+								B3KN86|B4DQ76|Q96GT1	RNA	DEL	ENST00000338134.3	37		CCDS42583.1																																																																																				0.682	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			2	4						2	4	---	---	---	---
