#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
LRRC37A6P	387646	broad.mit.edu	37	10	27538842	27538842	+	lincRNA	SNP	G	G	T	rs543737774		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:27538842G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGTCTCAGCTGGGGCCTCCTG	0.517																																						ENST00000574842.1																			0																				45.0	37.0	39.0					10																	27538842		692	1591	2283			387646							g.chr10:27538842G>T																													10.37:g.27538842G>T						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.517	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			40	80	1	0	2.32173e-10	1	2.52362e-10	40	80				
DOCK7	85440	broad.mit.edu	37	1	63018486	63018486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:63018486G>A	ENST00000340370.5	-	22	2700	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.R895*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	895					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTAAGGCTTCGAGAACGATTT	0.453																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2683-2685)Cga>Tga		dedicator of cytokinesis 7							97.0	91.0	93.0					1																	63018486		2203	4300	6503	SO:0001587	stop_gained	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63018486G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2683C>T	1.37:g.63018486G>A	ENSP00000340742:p.Arg895*					DOCK7_ENST00000340370.5_Nonsense_Mutation_p.R895*	p.R895*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			22	2716	-			895					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	c.2683C>T	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.855014|8.855014	0.98978|0.98978	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	.|T	.|0.29142	.|1.58	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.45135	.|0.1327	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59080	.|-0.7521	.|5	0.02654|0.87932	T|D	1|0	.|.	12.236|12.236	0.54516|0.54516	0.0:0.0:0.708:0.292|0.0:0.0:0.708:0.292	.|.	.|.	.|.	.|.	X|L	895|66	.|ENSP00000413583:S66L	ENSP00000251157:R895X|ENSP00000413583:S66L	R|S	-|-	1|2	2|0	DOCK7|DOCK7	62791074|62791074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.774000|2.774000	0.47694|0.47694	2.564000|2.564000	0.86499|0.86499	0.585000|0.585000	0.79938|0.79938	CGA|TCG		0.453	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		13	36	0	0	0	1	0	13	36				
C16orf72	29035	broad.mit.edu	37	16	9210584	9210584	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:9210584C>T	ENST00000327827.7	+	4	1040	c.643C>T	c.(643-645)Cat>Tat	p.H215Y		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	215										endometrium(4)|large_intestine(2)|lung(2)	8						CTCTCCTACACATGTAAGCAG	0.433																																						ENST00000327827.7																			0				endometrium(4)|large_intestine(2)|lung(2)	8						c.(643-645)Cat>Tat		chromosome 16 open reading frame 72							187.0	175.0	179.0					16																	9210584		2197	4300	6497	SO:0001583	missense	29035							g.chr16:9210584C>T	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.643C>T	16.37:g.9210584C>T	ENSP00000331720:p.His215Tyr						p.H215Y	NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN			4	1040	+			215						Missense_Mutation	SNP	ENST00000327827.7	37	c.643C>T	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.507978	0.64410	.	.	ENSG00000182831	ENST00000327827	T	0.42131	0.98	5.7	4.72	0.59763	.	0.158899	0.56097	D	0.000028	T	0.47173	0.1431	L	0.50333	1.59	0.58432	D	0.999999	P	0.43431	0.807	P	0.46825	0.528	T	0.45234	-0.9275	10	0.49607	T	0.09	0.0537	16.7756	0.85550	0.0:0.8716:0.1284:0.0	.	215	Q14CZ0	CP072_HUMAN	Y	215	ENSP00000331720:H215Y	ENSP00000331720:H215Y	H	+	1	0	C16orf72	9118085	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.992000	0.70609	2.697000	0.92050	0.585000	0.79938	CAT		0.433	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2	NM_014117		24	98	0	0	0	1	0	24	98				
CCNT1	904	broad.mit.edu	37	12	49094798	49094798	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:49094798A>G	ENST00000261900.3	-	4	653	c.431T>C	c.(430-432)tTa>tCa	p.L144S		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	144					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AAACTTACCTAAAGTCTGCAA	0.279																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(430-432)tTa>tCa		cyclin T1							50.0	51.0	50.0					12																	49094798		2202	4294	6496	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49094798A>G	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.431T>C	12.37:g.49094798A>G	ENSP00000261900:p.Leu144Ser						p.L144S	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			4	653	-			144					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.431T>C	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525088	0.85600	.	.	ENSG00000129315	ENST00000261900	T	0.37584	1.19	5.6	5.6	0.85130	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74987	-0.3476	10	0.87932	D	0	-10.3495	15.0852	0.72145	1.0:0.0:0.0:0.0	.	144	O60563	CCNT1_HUMAN	S	144	ENSP00000261900:L144S	ENSP00000261900:L144S	L	-	2	0	CCNT1	47381065	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.274000	0.95731	2.269000	0.75478	0.454000	0.30748	TTA		0.279	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		6	28	0	0	0	1	0	6	28				
C1orf116	79098	broad.mit.edu	37	1	207200887	207200887	+	Silent	SNP	G	G	T	rs376165178		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:207200887G>T	ENST00000359470.5	-	2	306	c.57C>A	c.(55-57)gtC>gtA	p.V19V	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	19						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CACAGCTGCCGACACGGGTCA	0.622																																						ENST00000359470.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(55-57)gtC>gtA		chromosome 1 open reading frame 116							88.0	78.0	81.0					1																	207200887		2203	4300	6503	SO:0001819	synonymous_variant	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207200887G>T		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.57C>A	1.37:g.207200887G>T						C1orf116_ENST00000461135.2_Intron	p.V19V	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			2	306	-	Prostate(682;0.19)		19					C9JV41|Q658X3	Silent	SNP	ENST00000359470.5	37	c.57C>A	CCDS1475.1																																																																																				0.622	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		7	88	1	0	0.00621372	1	0.00634053	7	88				
HYPK	25764	broad.mit.edu	37	15	44093763	44093763	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:44093763T>A	ENST00000406925.1	+	4	4401	c.290T>A	c.(289-291)cTa>cAa	p.L97Q	SERINC4_ENST00000249714.3_5'Flank|RP11-296A16.1_ENST00000417761.2_5'Flank|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000458412.1_Silent_p.A78A|SERF2_ENST00000594896.1_Missense_Mutation_p.L143Q|HYPK_ENST00000498605.1_3'UTR|SERF2_ENST00000600633.1_Missense_Mutation_p.L97Q|HYPK_ENST00000442995.2_Missense_Mutation_p.L97Q|SERINC4_ENST00000319327.6_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	97						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GATCTGGAGCTAATAGTGAGT	0.403																																						ENST00000406925.1																			0											c.(289-291)cTa>cAa		huntingtin interacting protein K							79.0	84.0	82.0					15																	44093763		2198	4298	6496	SO:0001583	missense	25764							g.chr15:44093763T>A	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.290T>A	15.37:g.44093763T>A	ENSP00000384474:p.Leu97Gln					SERF2_ENST00000594896.1_Missense_Mutation_p.L143Q|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000458412.1_Silent_p.A78A|HYPK_ENST00000442995.2_Missense_Mutation_p.L97Q|SERF2_ENST00000600633.1_Missense_Mutation_p.L97Q	p.L97Q						GBM - Glioblastoma multiforme(94;8.1e-07)	4	4401	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)						C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	ENST00000406925.1	37	c.290T>A	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.933203	0.92458	.	.	ENSG00000242028	ENST00000406925;ENST00000442995	T;T	0.63744	-0.06;-0.06	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.79864	-0.1623	9	0.87932	D	0	-16.5411	10.3509	0.43934	0.1464:0.0:0.0:0.8536	.	97	Q9NX55	HYPK_HUMAN	Q	97	ENSP00000384474:L97Q;ENSP00000401155:L97Q	ENSP00000384474:L97Q	L	+	2	0	C15orf63	41881055	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.946000	0.70234	2.154000	0.67381	0.533000	0.62120	CTA		0.403	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		4	47	0	0	0	1	0	4	47				
WT1	7490	broad.mit.edu	37	11	32417947	32417947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:32417947G>A	ENST00000379079.2	-	7	742	c.469C>T	c.(469-471)Cga>Tga	p.R157*	WT1_ENST00000448076.3_Nonsense_Mutation_p.R369*|WT1_ENST00000332351.3_Nonsense_Mutation_p.R369*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R140*	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	301					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R301*(5)|p.R301fs*16(5)|p.R301fs*7(5)|p.?(3)|p.R302fs*15(3)|p.R301fs*8(2)|p.R301fs*3(1)|p.R301fs*11(1)|p.R301fs*17(1)|p.V300fs*6(1)|p.R301fs*19(1)|p.R301fs*6(1)|p.D299fs*15(1)|p.R301fs*73(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCACACGTCGCACATCCTGC	0.522			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	31	Complex - frameshift(10)|Insertion - Frameshift(9)|Substitution - Nonsense(5)|Deletion - Frameshift(4)|Unknown(3)	p.R301*(5)|p.R301fs*16(5)|p.R301fs*7(5)|p.?(3)|p.R302fs*15(3)|p.R301fs*8(2)|p.R301fs*3(1)|p.R301fs*11(1)|p.R301fs*17(1)|p.V300fs*6(1)|p.R301fs*19(1)|p.R301fs*6(1)|p.D299fs*15(1)|p.R301fs*73(1)	haematopoietic_and_lymphoid_tissue(27)|kidney(4)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	GRCh37	CM971594	WT1	M		c.(1105-1107)Cga>Tga		Wilms tumor 1							84.0	73.0	77.0					11																	32417947		2202	4299	6501	SO:0001587	stop_gained	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32417947G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.469C>T	11.37:g.32417947G>A	ENSP00000368370:p.Arg157*					WT1_ENST00000448076.3_Nonsense_Mutation_p.R369*|WT1_ENST00000530998.1_Nonsense_Mutation_p.R140*|WT1_ENST00000379079.2_Nonsense_Mutation_p.R157*	p.R369*	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		7	1389	-	Breast(20;0.247)		301		Q -> P (in DDS).	Important for interaction with target DNA.		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Nonsense_Mutation	SNP	ENST00000379079.2	37	c.1105C>T	CCDS55751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.064535|5.064535	0.93898|0.93898	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	.|.	.|.	.|.	6.17|6.17	4.26|4.26	0.50523|0.50523	.|.	.|0.000000	.|0.64402	.|U	.|0.000013	T|.	0.52289|.	0.1725|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53940|.	-0.8367|.	3|.	.|0.13108	.|T	.|0.6	.|.	14.3361|14.3361	0.66592|0.66592	0.0:0.0:0.6101:0.3899|0.0:0.0:0.6101:0.3899	.|.	.|.	.|.	.|.	V|X	59|157;369;140;352;369;120	.|.	.|ENSP00000331327:R369X	A|R	-|-	2|1	0|2	WT1|WT1	32374523|32374523	0.978000|0.978000	0.34361|0.34361	0.989000|0.989000	0.46669|0.46669	0.883000|0.883000	0.51084|0.51084	1.688000|1.688000	0.37690|0.37690	0.886000|0.886000	0.36113|0.36113	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.522	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		13	28	0	0	0	1	0	13	28				
MTHFD2L	441024	broad.mit.edu	37	4	75065546	75065546	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:75065546G>T	ENST00000395759.2	+	4	514	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S	MTHFD2L_ENST00000433372.1_Missense_Mutation_p.A28S|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.A105S|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.A105S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	163					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CAATGGAATTGCCCCAGAAAA	0.343																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(487-489)Gcc>Tcc		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							82.0	86.0	85.0					4																	75065546		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75065546G>T	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.487G>T	4.37:g.75065546G>T	ENSP00000379108:p.Ala163Ser					MTHFD2L_ENST00000433372.1_Missense_Mutation_p.A28S|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.A105S|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.A105S	p.A163S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		4	514	+			105					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.487G>T	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	6.061	0.379654	0.11466	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.28454	1.61;2.12;1.64;1.7;2.1	5.2	2.38	0.29361	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.172948	0.50627	D	0.000115	T	0.12347	0.0300	N	0.05351	-0.065	0.28645	N	0.906946	B;B	0.16802	0.019;0.0	B;B	0.21360	0.034;0.004	T	0.25082	-1.0142	10	0.15499	T	0.54	.	5.0068	0.14291	0.1961:0.0:0.6387:0.1652	.	163;105	Q9H903;Q9H903-3	MTD2L_HUMAN;.	S	28;163;105;105;105	ENSP00000405692:A28S;ENSP00000379108:A163S;ENSP00000330982:A105S;ENSP00000352012:A105S;ENSP00000321984:A105S	ENSP00000321984:A105S	A	+	1	0	MTHFD2L	75284410	0.983000	0.35010	0.964000	0.40570	0.915000	0.54546	1.098000	0.31000	0.276000	0.22118	0.655000	0.94253	GCC		0.343	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		18	50	1	0	5.35267e-07	1	5.72478e-07	18	50				
COL4A5	1287	broad.mit.edu	37	X	107829872	107829872	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chrX:107829872A>G	ENST00000361603.2	+	19	1304	c.1060A>G	c.(1060-1062)Act>Gct	p.T354A	COL4A5_ENST00000328300.6_Missense_Mutation_p.T354A	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	354	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACTGGTATAACTATAGGAGA	0.423									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1060-1062)Act>Gct		collagen, type IV, alpha 5							108.0	109.0	109.0					X																	107829872		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107829872A>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1060A>G	X.37:g.107829872A>G	ENSP00000354505:p.Thr354Ala					COL4A5_ENST00000361603.2_Missense_Mutation_p.T354A	p.T354A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			19	1304	+			354			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1060A>G	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	A	1.471	-0.559862	0.03967	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.90955	-2.76;-2.59	4.47	1.82	0.25136	.	0.588454	0.16130	N	0.228260	T	0.76011	0.3928	N	0.17564	0.495	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60089	-0.7331	10	0.05351	T	0.99	.	4.6645	0.12659	0.7337:0.0:0.0964:0.1699	.	354;354	E7EVY4;P29400	.;CO4A5_HUMAN	A	354	ENSP00000331902:T354A;ENSP00000354505:T354A	ENSP00000331902:T354A	T	+	1	0	COL4A5	107716528	0.986000	0.35501	0.010000	0.14722	0.663000	0.39108	0.940000	0.28992	0.635000	0.30488	0.235000	0.17854	ACT		0.423	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			27	32	0	0	0	1	0	27	32				
ZBTB46	140685	broad.mit.edu	37	20	62378317	62378317	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr20:62378317C>T	ENST00000245663.4	-	5	1886	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E	RP4-583P15.10_ENST00000433905.2_RNA|ZBTB46_ENST00000302995.2_Missense_Mutation_p.G579E|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G579E|RP4-583P15.10_ENST00000447343.2_RNA	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	579					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTCAGGGCCTCCTGGGGGGCT	0.716																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1735-1737)gGa>gAa		zinc finger and BTB domain containing 46							9.0	10.0	10.0					20																	62378317		2174	4261	6435	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62378317C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.1736G>A	20.37:g.62378317C>T	ENSP00000245663:p.Gly579Glu					ZBTB46_ENST00000302995.2_Missense_Mutation_p.G579E|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G579E	p.G579E	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			5	1886	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		579					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.1736G>A	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212056	0.39102	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.09723	2.95;2.95;2.95	4.16	2.14	0.27477	.	0.178564	0.39341	N	0.001392	T	0.08492	0.0211	L	0.32530	0.975	0.40488	D	0.980519	B	0.17038	0.02	B	0.18263	0.021	T	0.15607	-1.0431	10	0.87932	D	0	.	8.0828	0.30754	0.0:0.7495:0.16:0.0905	.	579	Q86UZ6	ZBT46_HUMAN	E	579	ENSP00000245663:G579E;ENSP00000303102:G579E;ENSP00000378536:G579E	ENSP00000245663:G579E	G	-	2	0	ZBTB46	61848761	0.975000	0.34042	0.002000	0.10522	0.008000	0.06430	2.588000	0.46137	0.202000	0.20498	0.462000	0.41574	GGA		0.716	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		3	5	0	0	0	1	0	3	5				
CRX	1406	broad.mit.edu	37	19	48339631	48339631	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:48339631C>G	ENST00000221996.7	+	3	438	c.232C>G	c.(232-234)Ctg>Gtg	p.L78V	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.L78V	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	78					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAAGATCAATCTGCCTGAGTC	0.607																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(232-234)Ctg>Gtg		cone-rod homeobox							107.0	99.0	101.0					19																	48339631		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48339631C>G	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.232C>G	19.37:g.48339631C>G	ENSP00000221996:p.Leu78Val					TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.L78V	p.L78V	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	3	438	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	78					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.232C>G	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620312	0.28801	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.98207	-4.79;-4.79	3.35	2.3	0.28687	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000005	D	0.98557	0.9518	M	0.82193	2.58	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.98325	1.0530	10	0.87932	D	0	-10.9749	8.1755	0.31278	0.0:0.8748:0.0:0.1252	.	78	O43186	CRX_HUMAN	V	78	ENSP00000221996:L78V;ENSP00000445565:L78V	ENSP00000221996:L78V	L	+	1	2	CRX	53031443	0.998000	0.40836	0.908000	0.35775	0.457000	0.32468	2.234000	0.43035	0.599000	0.29845	0.205000	0.17691	CTG		0.607	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		9	41	0	0	0	1	0	9	41				
CCDC129	223075	broad.mit.edu	37	7	31617900	31617900	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr7:31617900C>A	ENST00000407970.3	+	8	1060	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.S249Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S367Y	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	341										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCTTGCTCATCTATGCCGGCC	0.498																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(745-747)tCt>tAt		coiled-coil domain containing 129							73.0	72.0	72.0					7																	31617900		1990	4147	6137	SO:0001583	missense	223075							g.chr7:31617900C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1022C>A	7.37:g.31617900C>A	ENSP00000384416:p.Ser341Tyr					CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.S341Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S367Y	p.S249Y			Q6ZRS4	CC129_HUMAN			6	930	+			341					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.746C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392818	0.42410	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.20738	2.32;2.32;2.05	5.08	2.21	0.28008	.	.	.	.	.	T	0.33702	0.0872	M	0.62723	1.935	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63381	0.914;0.914;0.914	T	0.12116	-1.0560	8	.	.	.	-1.7561	3.569	0.07910	0.1958:0.4417:0.278:0.0845	.	367;351;341	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	Y	341;367;351;249	ENSP00000384416:S341Y;ENSP00000395835:S367Y;ENSP00000387214:S249Y	.	S	+	2	0	CCDC129	31584425	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.576000	0.23744	0.371000	0.24564	0.655000	0.94253	TCT		0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		4	23	1	0	1	1	1	4	23				
DEF8	54849	broad.mit.edu	37	16	90016039	90016039	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:90016039G>A	ENST00000268676.7	+	2	255	c.166G>A	c.(166-168)Gag>Aag	p.E56K	DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000570182.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	56					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAGGACGCGGGAGGCCAGGTC	0.667																																						ENST00000268676.7																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(166-168)Gag>Aag		differentially expressed in FDCP 8 homolog (mouse)							34.0	35.0	34.0					16																	90016039		2198	4299	6497	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90016039G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.166G>A	16.37:g.90016039G>A	ENSP00000268676:p.Glu56Lys					DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563594.1_Intron	p.E56K	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	255	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	56					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.166G>A	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671422	0.29693	.	.	ENSG00000140995	ENST00000268676	T	0.45668	0.89	1.99	-0.155	0.13395	.	.	.	.	.	T	0.18964	0.0455	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16719	-1.0393	9	0.45353	T	0.12	.	3.1566	0.06506	0.1817:0.284:0.5343:0.0	.	56	Q6ZN54	DEFI8_HUMAN	K	56	ENSP00000268676:E56K	ENSP00000268676:E56K	E	+	1	0	DEF8	88543540	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.542000	0.06091	-0.012000	0.14223	0.436000	0.28706	GAG		0.667	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		17	36	0	0	0	1	0	17	36				
SLC1A5	6510	broad.mit.edu	37	19	47278812	47278812	+	Silent	SNP	G	G	A	rs372990738		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:47278812G>A	ENST00000542575.2	-	8	2209	c.1581C>T	c.(1579-1581)ccC>ccT	p.P527P	SLC1A5_ENST00000434726.2_Silent_p.P325P|SLC1A5_ENST00000412532.2_Silent_p.P299P|SLC1A5_ENST00000594991.1_Silent_p.P351P|FKRP_ENST00000600646.1_Intron	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	527					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CATCCCCTGCGGGCCCCCGAT	0.597													-|||	1	0.000199681	0.0008	0.0	5008	,	,		14711	0.0		0.0	False		,,,				2504	0.0					ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1579-1581)ccC>ccT		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)		,,	1,4405	2.1+/-5.4	0,1,2202	92.0	102.0	99.0		897,975,1581	-6.9	0.0	19		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC1A5	NM_001145144.1,NM_001145145.1,NM_005628.2	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	299/314,325/340,527/542	47278812	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47278812G>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1581C>T	19.37:g.47278812G>A						SLC1A5_ENST00000434726.2_Silent_p.P325P|SLC1A5_ENST00000412532.2_Silent_p.P299P|SLC1A5_ENST00000594991.1_Silent_p.P351P|FKRP_ENST00000600646.1_Intron	p.P527P	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2209	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	527					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	ENST00000542575.2	37	c.1581C>T	CCDS12692.1																																																																																				0.597	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			38	145	0	0	0	1	0	38	145				
OR4P4	81300	broad.mit.edu	37	11	55406478	55406478	+	Silent	SNP	T	T	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:55406478T>C	ENST00000314612.2	+	1	645	c.645T>C	c.(643-645)tcT>tcC	p.S215S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGTTGTTGTCTTATGTTTTTA	0.378																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(643-645)tcT>tcC		olfactory receptor, family 4, subfamily P, member 4							144.0	106.0	120.0					11																	55406478		2180	4013	6193	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406478T>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.645T>C	11.37:g.55406478T>C							p.S215S	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	645	+			215						Silent	SNP	ENST00000314612.2	37	c.645T>C	CCDS31504.1																																																																																				0.378	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		18	52	0	0	0	1	0	18	52				
SASH1	23328	broad.mit.edu	37	6	148869524	148869524	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:148869524C>G	ENST00000367467.3	+	20	4049	c.3574C>G	c.(3574-3576)Ccc>Gcc	p.P1192A		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1192	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CATCGGTCTGCCCATGTACGC	0.572																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3574-3576)Ccc>Gcc		SAM and SH3 domain containing 1							128.0	126.0	127.0					6																	148869524		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148869524C>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3574C>G	6.37:g.148869524C>G	ENSP00000356437:p.Pro1192Ala						p.P1192A	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	20	4049	+		Ovarian(120;0.0169)	1192			SAM 2.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3574C>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199063	0.79015	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	D	0.84730	-1.89	5.22	5.22	0.72569	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.90055	0.6894	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90967	0.4817	10	0.87932	D	0	-23.7788	18.7994	0.92010	0.0:1.0:0.0:0.0	.	1192	O94885	SASH1_HUMAN	A	1192;602	ENSP00000356437:P1192A	ENSP00000356437:P1192A	P	+	1	0	SASH1	148911217	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	7.100000	0.76989	2.451000	0.82905	0.561000	0.74099	CCC		0.572	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		22	54	0	0	0	1	0	22	54				
IGF1R	3480	broad.mit.edu	37	15	99442718	99442718	+	Missense_Mutation	SNP	C	C	T	rs147236845		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:99442718C>T	ENST00000268035.6	+	5	1726	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	IGF1R_ENST00000558762.1_Missense_Mutation_p.S372L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	372					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AACATTGCTTCAGAGCTGGAG	0.458																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1114-1116)tCa>tTa		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	C	LEU/SER	1,4393	2.1+/-5.4	0,1,2196	176.0	160.0	166.0		1115	5.4	1.0	15	dbSNP_134	166	0,8594		0,0,4297	no	missense	IGF1R	NM_000875.3	145	0,1,6493	TT,TC,CC		0.0,0.0228,0.0077	benign	372/1368	99442718	1,12987	2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99442718C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1115C>T	15.37:g.99442718C>T	ENSP00000268035:p.Ser372Leu					IGF1R_ENST00000558762.1_Missense_Mutation_p.S372L	p.S372L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		5	1726	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		372					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.1115C>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104654	0.94245	2.28E-4	0.0	ENSG00000140443	ENST00000268035	T	0.79749	-1.3	5.44	5.44	0.79542	EGF receptor, L domain (1);	0.000000	0.49916	D	0.000129	D	0.84456	0.5476	M	0.66939	2.045	0.80722	D	1	D;B	0.55172	0.97;0.007	P;B	0.49332	0.607;0.019	D	0.84690	0.0722	10	0.46703	T	0.11	.	19.6379	0.95744	0.0:1.0:0.0:0.0	.	372;372	C9J5X1;P08069	.;IGF1R_HUMAN	L	372	ENSP00000268035:S372L	ENSP00000268035:S372L	S	+	2	0	IGF1R	97260241	1.000000	0.71417	0.988000	0.46212	0.958000	0.62258	7.776000	0.85560	2.712000	0.92718	0.563000	0.77884	TCA		0.458	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		23	45	0	0	0	1	0	23	45				
OR10H5	284433	broad.mit.edu	37	19	15905407	15905407	+	Silent	SNP	T	T	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:15905407T>C	ENST00000308940.8	+	1	647	c.549T>C	c.(547-549)ccT>ccC	p.P183P		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACGTGCCACCTCTGTTGAAGT	0.577																																						ENST00000308940.8																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(547-549)ccT>ccC		olfactory receptor, family 10, subfamily H, member 5							172.0	139.0	150.0					19																	15905407		2203	4300	6503	SO:0001819	synonymous_variant	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905407T>C	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.549T>C	19.37:g.15905407T>C							p.P183P	NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN			1	647	+			183					Q6IFJ0|Q96R60	Silent	SNP	ENST00000308940.8	37	c.549T>C	CCDS32940.1																																																																																				0.577	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			7	75	0	0	0	1	0	7	75				
CHP2	63928	broad.mit.edu	37	16	23768600	23768600	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:23768600G>A	ENST00000300113.2	+	6	916	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	165	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCAGGAGGCTGATGAAGATGG	0.567																																						ENST00000300113.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9						c.(493-495)Gat>Aat		calcineurin-like EF-hand protein 2							95.0	83.0	87.0					16																	23768600		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23768600G>A		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.493G>A	16.37:g.23768600G>A	ENSP00000300113:p.Asp165Asn						p.D165N	NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	6	916	+			165			EF-hand 4.		A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.493G>A	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975903	0.92982	.	.	ENSG00000166869	ENST00000300113	T	0.53857	0.6	5.21	4.25	0.50352	EF-hand-like domain (1);	0.065265	0.56097	D	0.000028	T	0.79902	0.4526	H	0.97365	3.99	0.58432	D	0.999992	D	0.60575	0.988	P	0.61874	0.895	D	0.87270	0.2285	10	0.87932	D	0	-18.9524	13.948	0.64099	0.0:0.1531:0.8469:0.0	.	165	O43745	CHP2_HUMAN	N	165	ENSP00000300113:D165N	ENSP00000300113:D165N	D	+	1	0	AC130454.2	23676101	1.000000	0.71417	0.198000	0.23420	0.924000	0.55760	8.536000	0.90627	1.562000	0.49601	0.655000	0.94253	GAT		0.567	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		15	40	0	0	0	1	0	15	40				
PCDH9	5101	broad.mit.edu	37	13	67800669	67800669	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr13:67800669C>G	ENST00000377865.2	-	1	2038	c.1904G>C	c.(1903-1905)aGa>aCa	p.R635T	PCDH9_ENST00000377861.3_Missense_Mutation_p.R635T|PCDH9_ENST00000544246.1_Missense_Mutation_p.R635T|PCDH9_ENST00000456367.1_Missense_Mutation_p.R635T|PCDH9_ENST00000328454.5_Missense_Mutation_p.R635T			Q9HC56	PCDH9_HUMAN	protocadherin 9	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGCTGCTCTCTATCAAATGA	0.403																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1903-1905)aGa>aCa		protocadherin 9							108.0	99.0	102.0					13																	67800669		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800669C>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1904G>C	13.37:g.67800669C>G	ENSP00000367096:p.Arg635Thr					PCDH9_ENST00000377865.2_Missense_Mutation_p.R635T|PCDH9_ENST00000377861.3_Missense_Mutation_p.R635T|PCDH9_ENST00000328454.5_Missense_Mutation_p.R635T|PCDH9_ENST00000456367.1_Missense_Mutation_p.R635T	p.R635T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2595	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	635			Cadherin 6.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1904G>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689161	0.88735	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.4	5.4	0.78164	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82586	0.5069	M	0.92317	3.295	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.86232	0.1638	10	0.87932	D	0	.	19.3757	0.94508	0.0:1.0:0.0:0.0	.	635;635;635;635	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	T	635	ENSP00000442186:R635T;ENSP00000367096:R635T;ENSP00000401699:R635T;ENSP00000332060:R635T;ENSP00000367092:R635T	ENSP00000332060:R635T	R	-	2	0	PCDH9	66698670	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.651000	0.83577	2.814000	0.96858	0.655000	0.94253	AGA		0.403	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		22	70	0	0	0	1	0	22	70				
ZNF142	7701	broad.mit.edu	37	2	219520928	219520928	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:219520928G>A	ENST00000449707.1	-	4	646	c.225C>T	c.(223-225)atC>atT	p.I75I	ZNF142_ENST00000411696.2_Silent_p.I75I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTCCACAATGATCTCCATGT	0.592																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(223-225)atC>atT		zinc finger protein 142							71.0	73.0	72.0					2																	219520928		2035	4181	6216	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219520928G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.225C>T	2.37:g.219520928G>A						ZNF142_ENST00000449707.1_Silent_p.I75I	p.I75I			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	1004	-		Renal(207;0.0474)	75					Q92510	Silent	SNP	ENST00000449707.1	37	c.225C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271719	0.23221	.	.	ENSG00000115568	ENST00000440934	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	T	0.64735	0.2625	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61950	-0.6957	4	.	.	.	-5.0243	12.9178	0.58214	0.0:0.0:0.8383:0.1617	.	.	.	.	Y	67	.	.	H	-	1	0	ZNF142	219229172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.215000	0.32431	2.755000	0.94549	0.655000	0.94253	CAT		0.592	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		8	43	0	0	0	1	0	8	43				
AURKAIP1	54998	broad.mit.edu	37	1	1309521	1309521	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:1309521G>A	ENST00000338370.3	-	2	757	c.357C>T	c.(355-357)gtC>gtT	p.V119V	AURKAIP1_ENST00000378853.3_Silent_p.V119V|AURKAIP1_ENST00000338338.5_Silent_p.V119V|AURKAIP1_ENST00000489799.1_5'Flank|AURKAIP1_ENST00000321751.5_Silent_p.V119V			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	119					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGCATCCGCGACGCCTTCAT	0.612																																						ENST00000338370.3																			0				kidney(1)|lung(2)	3						c.(355-357)gtC>gtT		aurora kinase A interacting protein 1							88.0	92.0	91.0					1																	1309521		2203	4296	6499	SO:0001819	synonymous_variant	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309521G>A		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.357C>T	1.37:g.1309521G>A						AURKAIP1_ENST00000321751.5_Silent_p.V119V|AURKAIP1_ENST00000338338.5_Silent_p.V119V|AURKAIP1_ENST00000378853.3_Silent_p.V119V	p.V119V			Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	757	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	119					Q5TA36|Q8TBD3	Silent	SNP	ENST00000338370.3	37	c.357C>T	CCDS25.1																																																																																				0.612	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		28	55	0	0	0	1	0	28	55				
SLC25A25	114789	broad.mit.edu	37	9	130854238	130854238	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:130854238G>C	ENST00000373066.5	+	1	496	c.89G>C	c.(88-90)aGa>aCa	p.R30T	SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.R30T|SLC25A25_ENST00000373069.5_Intron	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CGTGAAGTCAGAGGCACCCCA	0.582																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(88-90)aGa>aCa		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							98.0	111.0	107.0					9																	130854238		1935	4133	6068	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130854238G>C	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.89G>C	9.37:g.130854238G>C	ENSP00000362157:p.Arg30Thr					SLC25A25_ENST00000432073.2_Missense_Mutation_p.R30T|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373068.2_Intron|RP11-379C10.4_ENST00000453870.1_RNA	p.R30T	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			1	496	+			0					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373066.5	37	c.89G>C	CCDS59146.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251441	0.39797	.	.	ENSG00000148339	ENST00000432073;ENST00000373066	T;T	0.79940	-1.11;-1.32	6.07	-1.0	0.10196	.	.	.	.	.	T	0.63094	0.2482	.	.	.	0.58432	D	0.999999	B;B	0.10296	0.0;0.003	B;B	0.15484	0.001;0.013	T	0.43114	-0.9411	8	0.15952	T	0.53	.	7.4304	0.27124	0.2113:0.3292:0.4595:0.0	.	30;30	Q6KCM7-5;Q6KCM7-4	.;.	T	30	ENSP00000410053:R30T;ENSP00000362157:R30T	ENSP00000362157:R30T	R	+	2	0	SLC25A25	129894059	0.998000	0.40836	0.977000	0.42913	0.833000	0.47200	0.425000	0.21346	-0.076000	0.12775	-0.136000	0.14681	AGA		0.582	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054406.1	NM_052901		27	161	0	0	0	1	0	27	161				
ZNF572	137209	broad.mit.edu	37	8	125988597	125988597	+	Silent	SNP	A	A	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:125988597A>T	ENST00000319286.5	+	3	241	c.87A>T	c.(85-87)acA>acT	p.T29T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	29					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGGAGATACAAGTATGAATA	0.328										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(85-87)acA>acT		zinc finger protein 572							48.0	55.0	53.0					8																	125988597		2203	4298	6501	SO:0001819	synonymous_variant	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125988597A>T	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.87A>T	8.37:g.125988597A>T		HNSCC(60;0.17)					p.T29T	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	241	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		29					A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	c.87A>T	CCDS6354.1																																																																																				0.328	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		11	70	0	0	0	1	0	11	70				
UPF1	5976	broad.mit.edu	37	19	18963799	18963799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:18963799C>T	ENST00000599848.1	+	7	1185	c.976C>T	c.(976-978)Caa>Taa	p.Q326*	UPF1_ENST00000262803.5_Nonsense_Mutation_p.Q326*			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	326	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGCTCAGACTCAAGATAACAT	0.552																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(976-978)Caa>Taa		UPF1 regulator of nonsense transcripts homolog (yeast)							123.0	109.0	114.0					19																	18963799		2203	4300	6503	SO:0001587	stop_gained	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18963799C>T	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.976C>T	19.37:g.18963799C>T	ENSP00000470142:p.Gln326*					UPF1_ENST00000599848.1_Nonsense_Mutation_p.Q326*	p.Q326*	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			7	1248	+			326			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Nonsense_Mutation	SNP	ENST00000599848.1	37	c.976C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.502816	0.98838	.	.	ENSG00000005007	ENST00000262803	.	.	.	4.44	4.44	0.53790	.	0.376652	0.28877	N	0.013856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-12.0845	16.0471	0.80727	0.0:1.0:0.0:0.0	.	.	.	.	X	326	.	ENSP00000262803:Q326X	Q	+	1	0	UPF1	18824799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.475000	0.81041	2.027000	0.59764	0.536000	0.68110	CAA		0.552	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		17	52	0	0	0	1	0	17	52				
LYST	1130	broad.mit.edu	37	1	235922444	235922444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:235922444G>A	ENST00000389794.3	-	23	6883	c.6709C>T	c.(6709-6711)Cag>Tag	p.Q2237*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q2237*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2237					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGCTTCGCTGGAAGGAGGCC	0.527																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(6709-6711)Cag>Tag		lysosomal trafficking regulator							87.0	85.0	86.0					1																	235922444		2203	4300	6503	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235922444G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6709C>T	1.37:g.235922444G>A	ENSP00000374444:p.Gln2237*					LYST_ENST00000389793.2_Nonsense_Mutation_p.Q2237*	p.Q2237*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		23	6883	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2237					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.6709C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	46	12.920286	0.99706	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	4.93	4.01	0.46588	.	0.385276	0.29707	N	0.011410	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.5182	0.33259	0.0783:0.0:0.7696:0.1521	.	.	.	.	X	2237	.	ENSP00000374443:Q2237X	Q	-	1	0	LYST	233989067	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.946000	0.75953	1.209000	0.43321	0.558000	0.71614	CAG		0.527	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			37	53	0	0	0	1	0	37	53				
STAG3	10734	broad.mit.edu	37	7	99799430	99799430	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr7:99799430C>G	ENST00000426455.1	+	22	2649	c.2242C>G	c.(2242-2244)Ctt>Gtt	p.L748V	STAG3_ENST00000394018.2_Missense_Mutation_p.L690V|STAG3_ENST00000317296.5_Missense_Mutation_p.L748V|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	748					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCTTGACTCTTGTCTATTT	0.448																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2242-2244)Ctt>Gtt		stromal antigen 3							168.0	157.0	161.0					7																	99799430		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99799430C>G	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2242C>G	7.37:g.99799430C>G	ENSP00000400359:p.Leu748Val					STAG3_ENST00000394018.2_Missense_Mutation_p.L690V|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.L748V	p.L748V			Q9UJ98	STAG3_HUMAN			22	2649	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		748					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.2242C>G	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	13.23	2.176143	0.38413	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.21932	1.98;1.98;1.98	5.56	3.63	0.41609	Armadillo-type fold (1);	0.161338	0.29355	N	0.012394	T	0.12987	0.0315	N	0.22421	0.69	0.80722	D	1	B;B	0.28998	0.014;0.23	B;B	0.24269	0.032;0.052	T	0.07712	-1.0758	10	0.66056	D	0.02	-7.4059	8.3825	0.32479	0.177:0.6523:0.1707:0.0	.	690;748	B4DZ10;Q9UJ98	.;STAG3_HUMAN	V	748;690;706;748	ENSP00000400359:L748V;ENSP00000377586:L690V;ENSP00000319318:L748V	ENSP00000319318:L748V	L	+	1	0	STAG3	99637366	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.327000	0.33746	1.341000	0.45600	-0.309000	0.09137	CTT		0.448	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		21	88	0	0	0	1	0	21	88				
CDKN3	1033	broad.mit.edu	37	14	54868294	54868294	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:54868294C>A	ENST00000541304.1	+	3	185	c.145C>A	c.(145-147)Cca>Aca	p.P49T	CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000556102.2_Missense_Mutation_p.P49T|CDKN3_ENST00000458126.2_Missense_Mutation_p.P49T|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000543789.2_Missense_Mutation_p.P49T|CDKN3_ENST00000335183.6_Missense_Mutation_p.P49T			Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|stomach(1)	3						ATGTGCTCTTCCAGGTGGGTA	0.328																																					Pancreas(40;634 1012 9382 49950 52462)	ENST00000541304.1																			0				breast(2)|stomach(1)	3						c.(145-147)Cca>Aca		cyclin-dependent kinase inhibitor 3							97.0	97.0	97.0					14																	54868294		2203	4300	6503	SO:0001583	missense	1033				cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr14:54868294C>A	U02681	CCDS9716.1, CCDS45109.1	14q22	2011-08-25	2008-08-01		ENSG00000100526	ENSG00000100526		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1791	protein-coding gene	gene with protein product	"""kinase associated phosphatase"", ""cyclin-dependent kinase inhibitor"", ""CDK2-associated dual specificity phosphatase"""	123832				8242750, 7698009	Standard	NM_005192		Approved	KAP, CDI1	uc001xap.3	Q16667	OTTHUMG00000140302	ENST00000541304.1:c.145C>A	14.37:g.54868294C>A	ENSP00000445572:p.Pro49Thr					CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000556102.2_Missense_Mutation_p.P49T|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000458126.2_Missense_Mutation_p.P49T|CDKN3_ENST00000335183.6_Missense_Mutation_p.P49T|CDKN3_ENST00000543789.2_Missense_Mutation_p.P49T	p.P49T			Q16667	CDKN3_HUMAN			3	185	+			49						Missense_Mutation	SNP	ENST00000541304.1	37	c.145C>A		.	.	.	.	.	.	.	.	.	.	C	16.08	3.020785	0.54576	.	.	ENSG00000100526	ENST00000335183;ENST00000543789;ENST00000458126;ENST00000556102;ENST00000541304;ENST00000439312;ENST00000434252	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.93	5.93	0.95920	Cyclin-dependent kinase inhibitor 3, bac/eukaryotic (1);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.58869	-0.7560	10	0.26408	T	0.33	-25.5956	18.1378	0.89627	0.0:1.0:0.0:0.0	.	49;49	F8WDR6;Q16667	.;CDKN3_HUMAN	T	49	ENSP00000335357:P49T;ENSP00000440404:P49T;ENSP00000396451:P49T;ENSP00000450711:P49T;ENSP00000445572:P49T	ENSP00000216414:P48T	P	+	1	0	CDKN3	53938044	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	5.210000	0.65214	2.814000	0.96858	0.591000	0.81541	CCA		0.328	CDKN3-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000411158.1			15	44	1	0	1.01871e-10	1	1.11946e-10	15	44				
PTPRK	5796	broad.mit.edu	37	6	128385918	128385918	+	Missense_Mutation	SNP	G	G	A	rs377279284		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:128385918G>A	ENST00000368215.3	-	13	2178	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	PTPRK_ENST00000368227.3_Missense_Mutation_p.R727C|PTPRK_ENST00000532331.1_Missense_Mutation_p.R727C|PTPRK_ENST00000368213.5_Missense_Mutation_p.R727C|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.R727C|PTPRK_ENST00000368207.3_Missense_Mutation_p.R727C|PTPRK_ENST00000368210.3_Missense_Mutation_p.R727C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	727					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTAGCAATGCGTACGCACTGG	0.343																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2179-2181)Cgc>Tgc		protein tyrosine phosphatase, receptor type, K		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	104.0	107.0	106.0		2179,2179	1.6	1.0	6		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRK	NM_001135648.1,NM_002844.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	727/1447,727/1441	128385918	1,13005	2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128385918G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2179C>T	6.37:g.128385918G>A	ENSP00000357198:p.Arg727Cys					PTPRK_ENST00000368226.4_Missense_Mutation_p.R727C|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Missense_Mutation_p.R727C|PTPRK_ENST00000368207.3_Missense_Mutation_p.R727C|PTPRK_ENST00000368215.3_Missense_Mutation_p.R727C|PTPRK_ENST00000368210.3_Missense_Mutation_p.R727C|PTPRK_ENST00000368213.5_Missense_Mutation_p.R727C|PTPRK_ENST00000524481.1_5'UTR	p.R727C			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	13	2545	-			727					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2179C>T		.	.	.	.	.	.	.	.	.	.	G	18.91	3.724452	0.68959	0.0	1.16E-4	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.09817	2.95;2.94;2.95;2.95;2.94;2.97;2.97	5.82	1.58	0.23477	.	0.110655	0.64402	D	0.000015	T	0.15739	0.0379	L	0.47716	1.5	0.53005	D	0.999967	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.994;0.997	P;D;D;D;P;P	0.76071	0.719;0.953;0.987;0.982;0.556;0.742	T	0.03875	-1.0996	10	0.66056	D	0.02	.	15.2567	0.73591	0.0:0.0:0.5313:0.4687	.	727;727;727;584;727;727	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	C	727;727;727;727;727;727;727;584	ENSP00000357209:R727C;ENSP00000357210:R727C;ENSP00000432973:R727C;ENSP00000357196:R727C;ENSP00000357193:R727C;ENSP00000357198:R727C;ENSP00000357190:R727C	ENSP00000357190:R727C	R	-	1	0	PTPRK	128427611	0.975000	0.34042	1.000000	0.80357	0.989000	0.77384	1.278000	0.33179	0.773000	0.33404	0.655000	0.94253	CGC		0.343	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			6	25	0	0	0	1	0	6	25				
SLC18A2	6571	broad.mit.edu	37	10	119015147	119015147	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:119015147C>T	ENST00000298472.5	+	9	1017	c.874C>T	c.(874-876)Ccg>Tcg	p.P292S	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	292					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCTGAAGGACCCGTACATCCT	0.612																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(874-876)Ccg>Tcg		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						53.0	52.0	53.0					10																	119015147		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119015147C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.874C>T	10.37:g.119015147C>T	ENSP00000298472:p.Pro292Ser					SLC18A2_ENST00000497497.1_3'UTR	p.P292S	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	9	1017	+		Colorectal(252;0.19)	292					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.874C>T	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725589	0.89298	.	.	ENSG00000165646	ENST00000298472	D	0.82984	-1.67	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93070	0.7794	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93732	0.7042	10	0.51188	T	0.08	-24.1536	18.8216	0.92099	0.0:1.0:0.0:0.0	.	292	Q05940	VMAT2_HUMAN	S	292	ENSP00000298472:P292S	ENSP00000298472:P292S	P	+	1	0	SLC18A2	119005137	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	7.648000	0.83479	2.505000	0.84491	0.563000	0.77884	CCG		0.612	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		5	23	0	0	0	1	0	5	23				
AMOTL2	51421	broad.mit.edu	37	3	134089642	134089642	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:134089642G>C	ENST00000422605.2	-	2	800	c.634C>G	c.(634-636)Cag>Gag	p.Q212E	AMOTL2_ENST00000249883.5_Missense_Mutation_p.Q212E|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000514516.1_Missense_Mutation_p.Q270E|AMOTL2_ENST00000513145.1_Missense_Mutation_p.Q212E			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	212					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TGAGGGTACTGAGGTGGGGGT	0.662																																						ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(808-810)Cag>Gag		angiomotin like 2							45.0	51.0	49.0					3																	134089642		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134089642G>C	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.634C>G	3.37:g.134089642G>C	ENSP00000409999:p.Gln212Glu					AMOTL2_ENST00000513145.1_Missense_Mutation_p.Q212E|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000422605.2_Missense_Mutation_p.Q212E|AMOTL2_ENST00000249883.5_Missense_Mutation_p.Q212E	p.Q270E	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN			2	986	-			212					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.808C>G		.	.	.	.	.	.	.	.	.	.	G	9.698	1.153665	0.21371	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.8	3.85	0.44370	.	0.227351	0.44483	D	0.000448	T	0.02649	0.0080	N	0.00637	-1.305	0.41784	D	0.989837	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.38308	-0.9667	10	0.02654	T	1	-22.6338	11.9946	0.53194	0.0:0.4383:0.5617:0.0	.	212;212;270	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	E	212;212;270;212	ENSP00000249883:Q212E;ENSP00000409999:Q212E;ENSP00000424765:Q270E;ENSP00000425475:Q212E	ENSP00000249883:Q212E	Q	-	1	0	AMOTL2	135572332	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	5.278000	0.65592	2.350000	0.79820	0.455000	0.32223	CAG		0.662	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		20	57	0	0	0	1	0	20	57				
SLIT1	6585	broad.mit.edu	37	10	98823366	98823366	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:98823366G>T	ENST00000266058.4	-	8	884	c.639C>A	c.(637-639)caC>caA	p.H213Q	SLIT1_ENST00000371041.3_Missense_Mutation_p.H213Q|SLIT1_ENST00000371070.4_Missense_Mutation_p.H213Q|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	213					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTGGTTGGAGTGCAGGCGGC	0.652																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(637-639)caC>caA		slit homolog 1 (Drosophila)							21.0	23.0	22.0					10																	98823366		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98823366G>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.639C>A	10.37:g.98823366G>T	ENSP00000266058:p.His213Gln					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.H213Q|SLIT1_ENST00000371070.4_Missense_Mutation_p.H213Q	p.H213Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	8	884	-		Colorectal(252;0.162)	213					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.639C>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243442	0.39697	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	N	0.12527	0.23	0.48087	D	0.999581	P;P	0.46987	0.888;0.851	P;P	0.48952	0.596;0.539	T	0.36456	-0.9747	10	0.62326	D	0.03	.	7.74	0.28835	0.2343:0.0:0.7657:0.0	.	213;213	E7EWQ8;O75093	.;SLIT1_HUMAN	Q	213;213;189;213;196;189;213	ENSP00000266058:H213Q;ENSP00000360109:H213Q;ENSP00000315005:H196Q;ENSP00000360080:H213Q	ENSP00000266058:H213Q	H	-	3	2	SLIT1	98813356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.838000	0.39211	2.289000	0.77006	0.549000	0.68633	CAC		0.652	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		3	16	1	0	6.4e-05	1	6.70157e-05	3	16				
LIPI	149998	broad.mit.edu	37	21	15538724	15538724	+	Missense_Mutation	SNP	C	C	G	rs532496995		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr21:15538724C>G	ENST00000536861.1	-	5	691	c.692G>C	c.(691-693)gGa>gCa	p.G231A	LIPI_ENST00000344577.2_Missense_Mutation_p.G252A			Q6XZB0	LIPI_HUMAN	lipase, member I	231					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTATTTCCTCCATTTGGATA	0.338																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(754-756)gGa>gCa		lipase, member I							130.0	127.0	128.0					21																	15538724		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15538724C>G	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.692G>C	21.37:g.15538724C>G	ENSP00000440381:p.Gly231Ala					LIPI_ENST00000536861.1_Missense_Mutation_p.G231A	p.G252A	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	5	780	-			231					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.755G>C		.	.	.	.	.	.	.	.	.	.	C	20.5	3.993489	0.74703	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.98437	-4.93;-4.93	5.38	5.38	0.77491	.	0.052166	0.85682	D	0.000000	D	0.99130	0.9700	M	0.92833	3.35	0.39819	D	0.9728	D	0.76494	0.999	D	0.69654	0.965	D	0.99892	1.1136	10	0.87932	D	0	.	16.4355	0.83873	0.0:1.0:0.0:0.0	.	252	Q6XZB0-2	.	A	252;231	ENSP00000343331:G252A;ENSP00000440381:G231A	ENSP00000343331:G252A	G	-	2	0	LIPI	14460595	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.203000	0.65174	2.686000	0.91538	0.585000	0.79938	GGA		0.338	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		20	45	0	0	0	1	0	20	45				
SIN3B	23309	broad.mit.edu	37	19	16977298	16977298	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:16977298C>G	ENST00000248054.5	+	12	1758	c.1737C>G	c.(1735-1737)ttC>ttG	p.F579L	SIN3B_ENST00000379803.1_Missense_Mutation_p.F611L|SIN3B_ENST00000595541.1_Missense_Mutation_p.F169L					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTGAACTTCAAGCAGAACG	0.597																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1831-1833)ttC>ttG		SIN3 transcription regulator family member B							152.0	108.0	123.0					19																	16977298		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16977298C>G	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1737C>G	19.37:g.16977298C>G	ENSP00000248054:p.Phe579Leu					SIN3B_ENST00000595541.1_Missense_Mutation_p.F169L|SIN3B_ENST00000248054.5_Missense_Mutation_p.F579L	p.F611L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			13	1847	+			611						Missense_Mutation	SNP	ENST00000248054.5	37	c.1833C>G		.	.	.	.	.	.	.	.	.	.	C	21.9	4.211135	0.79240	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.57595	0.46;0.39	4.96	2.67	0.31697	.	0.103290	0.64402	D	0.000002	T	0.76256	0.3962	H	0.96518	3.835	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	P;D;D	0.70935	0.906;0.971;0.936	T	0.77963	-0.2390	10	0.72032	D	0.01	-22.0041	6.8863	0.24202	0.0:0.6109:0.0:0.3891	.	169;579;611	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	L	611;579	ENSP00000369131:F611L;ENSP00000248054:F579L	ENSP00000248054:F579L	F	+	3	2	SIN3B	16838298	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.629000	0.46485	1.076000	0.40961	0.491000	0.48974	TTC		0.597	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		18	72	0	0	0	1	0	18	72				
LIMS2	55679	broad.mit.edu	37	2	128396899	128396899	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:128396899G>A	ENST00000355119.4	-	10	1148	c.983C>T	c.(982-984)tCc>tTc	p.S328F	LIMS2_ENST00000409254.1_Missense_Mutation_p.S176F|LIMS2_ENST00000409455.1_Missense_Mutation_p.S323F|LIMS2_ENST00000545738.2_Missense_Mutation_p.S350F|LIMS2_ENST00000409808.2_Missense_Mutation_p.S323F|LIMS2_ENST00000410038.1_Missense_Mutation_p.S176F|LIMS2_ENST00000409754.1_Missense_Mutation_p.S176F|LIMS2_ENST00000409286.1_Missense_Mutation_p.S176F|LIMS2_ENST00000494613.1_5'UTR|LIMS2_ENST00000410011.1_Missense_Mutation_p.S323F|LIMS2_ENST00000324938.5_Missense_Mutation_p.S352F	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	328					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GGCCTTGCGGGAGGTCAGCTC	0.612																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(967-969)tCc>tTc		LIM and senescent cell antigen-like domains 2							144.0	144.0	144.0					2																	128396899		2203	4300	6503	SO:0001583	missense	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128396899G>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.983C>T	2.37:g.128396899G>A	ENSP00000347240:p.Ser328Phe					LIMS2_ENST00000545738.2_Missense_Mutation_p.S350F|LIMS2_ENST00000409808.2_Missense_Mutation_p.S323F|LIMS2_ENST00000409286.1_Missense_Mutation_p.S176F|LIMS2_ENST00000409754.1_Missense_Mutation_p.S176F|LIMS2_ENST00000324938.5_Missense_Mutation_p.S352F|LIMS2_ENST00000409254.1_Missense_Mutation_p.S176F|LIMS2_ENST00000410038.1_Missense_Mutation_p.S176F|LIMS2_ENST00000355119.4_Missense_Mutation_p.S328F|LIMS2_ENST00000410011.1_Missense_Mutation_p.S323F|LIMS2_ENST00000494613.1_5'UTR	p.S323F			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	10	1603	-	Colorectal(110;0.1)		328					A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	ENST00000355119.4	37	c.968C>T	CCDS54395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.44|18.44	3.625048|3.625048	0.66901|0.66901	.|.	.|.	ENSG00000072163|ENSG00000072163	ENST00000426981|ENST00000545738;ENST00000355119;ENST00000409286;ENST00000409754;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000342067;ENST00000537572;ENST00000410038;ENST00000544917;ENST00000409254	.|T;T;T;T;T;T;T;T;T;T	.|0.35605	.|1.74;1.75;1.3;1.3;1.82;1.75;1.75;1.75;1.3;1.3	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.688144	.|0.14243	.|N	.|0.331949	T|T	0.37489|0.37489	0.1005|0.1005	L|L	0.43152|0.43152	1.355|1.355	0.38016|0.38016	D|D	0.934702|0.934702	.|P;P;P	.|0.41041	.|0.731;0.736;0.729	.|B;B;B	.|0.41236	.|0.323;0.205;0.351	T|T	0.44034|0.44034	-0.9354|-0.9354	5|10	.|0.56958	.|D	.|0.05	.|.	16.2981|16.2981	0.82786|0.82786	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|350;328;352	.|F5H6E6;Q7Z4I7;Q7Z4I7-2	.|.;LIMS2_HUMAN;.	S|F	156|350;328;176;176;352;323;323;323;323;236;176;176;350;176	.|ENSP00000443794:S350F;ENSP00000347240:S328F;ENSP00000386252:S176F;ENSP00000386345:S176F;ENSP00000326888:S352F;ENSP00000386383:S323F;ENSP00000386637:S323F;ENSP00000387002:S323F;ENSP00000386570:S176F;ENSP00000386907:S176F	.|ENSP00000326888:S352F	P|S	-|-	1|2	0|0	LIMS2|LIMS2	128113369|128113369	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.968000|0.968000	0.65278|0.65278	4.225000|4.225000	0.58600|0.58600	2.261000|2.261000	0.74972|0.74972	0.591000|0.591000	0.81541|0.81541	CCC|TCC		0.612	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		28	86	0	0	0	1	0	28	86				
CENPF	1063	broad.mit.edu	37	1	214791936	214791936	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:214791936G>C	ENST00000366955.3	+	4	548	c.380G>C	c.(379-381)aGa>aCa	p.R127T		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGCTTGAAAGAAGCCAACAA	0.403																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(379-381)aGa>aCa		centromere protein F, 350/400kDa							112.0	111.0	111.0					1																	214791936		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214791936G>C	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.380G>C	1.37:g.214791936G>C	ENSP00000355922:p.Arg127Thr						p.R127T	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	4	548	+			127			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.380G>C	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822547	0.71028	.	.	ENSG00000117724	ENST00000366955	T	0.30182	1.54	5.42	4.51	0.55191	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.40469	N	0.001084	T	0.52565	0.1742	.	.	.	0.35378	D	0.789666	D	0.89917	1.0	D	0.81914	0.995	T	0.66312	-0.5955	9	0.72032	D	0.01	.	10.213	0.43152	0.1535:0.0:0.8465:0.0	.	127	P49454	CENPF_HUMAN	T	127	ENSP00000355922:R127T	ENSP00000355922:R127T	R	+	2	0	CENPF	212858559	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.727000	0.54984	1.417000	0.47077	-0.216000	0.12614	AGA		0.403	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		44	59	0	0	0	1	0	44	59				
NFKB2	4791	broad.mit.edu	37	10	104161068	104161068	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:104161068G>A	ENST00000369966.3	+	19	2453	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	NFKB2_ENST00000189444.6_Missense_Mutation_p.D735N|NFKB2_ENST00000428099.1_Missense_Mutation_p.D735N	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	735			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CACGCCTCTTGACCTCACTTG	0.597			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(2203-2205)Gac>Aac		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							71.0	75.0	74.0					10																	104161068		2027	4190	6217	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104161068G>A	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2203G>A	10.37:g.104161068G>A	ENSP00000358983:p.Asp735Asn					NFKB2_ENST00000189444.6_Missense_Mutation_p.D735N|NFKB2_ENST00000428099.1_Missense_Mutation_p.D735N	p.D735N	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	19	2453	+		Colorectal(252;0.00957)	735		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).			A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.2203G>A	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	g	26.8	4.770656	0.90108	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.43294	0.95;0.97;0.95	4.43	3.53	0.40419	Ankyrin repeat-containing domain (1);	0.106398	0.64402	N	0.000010	T	0.56321	0.1977	L	0.59436	1.845	0.42845	D	0.994064	B;D	0.69078	0.012;0.997	B;D	0.77004	0.006;0.989	T	0.57849	-0.7740	10	0.59425	D	0.04	.	9.5625	0.39378	0.0993:0.0:0.9007:0.0	.	735;735	Q00653;A8K9D9	NFKB2_HUMAN;.	N	735	ENSP00000410256:D735N;ENSP00000358983:D735N;ENSP00000189444:D735N	ENSP00000189444:D735N	D	+	1	0	NFKB2	104151058	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.602000	0.46257	1.218000	0.43458	0.556000	0.70494	GAC		0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			24	56	0	0	0	1	0	24	56				
IQCK	124152	broad.mit.edu	37	16	19745024	19745024	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:19745024C>A	ENST00000320394.6	+	4	950	c.251C>A	c.(250-252)gCg>gAg	p.A84E	IQCK_ENST00000564186.1_Missense_Mutation_p.A84E|IQCK_ENST00000433597.2_5'UTR|IQCK_ENST00000541926.1_Missense_Mutation_p.A84E	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	84										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTCCAGGTTGCGCCAGTAGAG	0.423																																						ENST00000320394.6																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(250-252)gCg>gAg		IQ motif containing K							143.0	139.0	140.0					16																	19745024		2197	4300	6497	SO:0001583	missense	124152							g.chr16:19745024C>A	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.251C>A	16.37:g.19745024C>A	ENSP00000324901:p.Ala84Glu					IQCK_ENST00000541926.1_Missense_Mutation_p.A84E|IQCK_ENST00000433597.2_5'UTR|IQCK_ENST00000564186.1_Missense_Mutation_p.A84E	p.A84E	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN			4	950	+			84					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.251C>A	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766480	0.31228	.	.	ENSG00000174628	ENST00000320394;ENST00000308214;ENST00000541926	T	0.45276	0.9	5.08	3.06	0.35304	.	0.624582	0.13387	N	0.391694	T	0.22044	0.0531	N	0.14661	0.345	0.19575	N	0.999964	P;P	0.37176	0.586;0.586	B;B	0.35240	0.198;0.148	T	0.06356	-1.0831	9	.	.	.	-2.9809	6.0203	0.19625	0.0:0.7629:0.0:0.2371	.	84;84	B4DXE1;Q8N0W5	.;IQCK_HUMAN	E	84	ENSP00000324901:A84E	.	A	+	2	0	IQCK	19652525	0.000000	0.05858	0.026000	0.17262	0.065000	0.16274	0.110000	0.15437	1.376000	0.46267	0.655000	0.94253	GCG		0.423	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		24	81	1	0	3.01185e-09	1	3.23855e-09	24	81				
EPS15	2060	broad.mit.edu	37	1	51864782	51864782	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:51864782G>C	ENST00000371733.3	-	20	2070	c.1974C>G	c.(1972-1974)ttC>ttG	p.F658L	EPS15_ENST00000396122.4_Missense_Mutation_p.F335L|EPS15_ENST00000371730.2_Missense_Mutation_p.F524L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	658	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATTGCCTGAAGAAACAGTCTG	0.373			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1972-1974)ttC>ttG		epidermal growth factor receptor pathway substrate 15							131.0	123.0	126.0					1																	51864782		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51864782G>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1974C>G	1.37:g.51864782G>C	ENSP00000360798:p.Phe658Leu					EPS15_ENST00000396122.4_Missense_Mutation_p.F335L|EPS15_ENST00000371730.2_Missense_Mutation_p.F524L	p.F658L	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			20	2070	-			658			15 X 3 AA repeats of D-P-F.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1974C>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667152	0.67814	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.18338	2.22;2.22;2.22	5.44	4.52	0.55395	.	.	.	.	.	T	0.31544	0.0800	M	0.65975	2.015	0.58432	D	0.999995	D;D;D	0.76494	0.982;0.999;0.999	D;D;D	0.85130	0.952;0.997;0.991	T	0.12372	-1.0550	9	0.10377	T	0.69	.	7.7768	0.29041	0.2601:0.0:0.7399:0.0	.	524;658;344	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	L	524;658;335	ENSP00000360795:F524L;ENSP00000360798:F658L;ENSP00000379428:F335L	ENSP00000360795:F524L	F	-	3	2	EPS15	51637370	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.822000	0.48073	2.561000	0.86390	0.491000	0.48974	TTC		0.373	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		18	62	0	0	0	1	0	18	62				
PKHD1L1	93035	broad.mit.edu	37	8	110457400	110457400	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:110457400G>A	ENST00000378402.5	+	38	5406	c.5302G>A	c.(5302-5304)Gaa>Aaa	p.E1768K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1768	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTCTTATTGAAGGAGAAGG	0.403										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5302-5304)Gaa>Aaa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							79.0	75.0	76.0					8																	110457400		1870	4109	5979	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457400G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5302G>A	8.37:g.110457400G>A	ENSP00000367655:p.Glu1768Lys	HNSCC(38;0.096)					p.E1768K	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5406	+			1768			IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5302G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	5.522	0.281284	0.10458	.	.	ENSG00000205038	ENST00000378402	T	0.75821	-0.97	6.17	5.29	0.74685	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.445127	0.24693	N	0.036361	T	0.60573	0.2279	L	0.40543	1.245	0.20821	N	0.999849	B	0.06786	0.001	B	0.12837	0.008	T	0.44937	-0.9295	10	0.07813	T	0.8	.	8.7851	0.34816	0.1695:0.0:0.8305:0.0	.	1768	Q86WI1	PKHL1_HUMAN	K	1768	ENSP00000367655:E1768K	ENSP00000367655:E1768K	E	+	1	0	PKHD1L1	110526576	1.000000	0.71417	0.937000	0.37676	0.714000	0.41099	1.861000	0.39438	1.598000	0.50083	0.655000	0.94253	GAA		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		16	75	0	0	0	1	0	16	75				
SH2D3C	10044	broad.mit.edu	37	9	130536747	130536747	+	Splice_Site	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:130536747C>G	ENST00000314830.8	-	2	151		c.e2-1		SH2D3C_ENST00000471939.1_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C						JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAAGAACTCTAGCAGAGGG	0.478																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e2-1		SH2 domain containing 3C							47.0	45.0	46.0					9																	130536747		2203	4300	6503	SO:0001630	splice_region_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130536747C>G	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.38-1G>C	9.37:g.130536747C>G								NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			2	151	-								A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Splice_Site	SNP	ENST00000314830.8	37		CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800400	0.31869	.	.	ENSG00000095370	ENST00000314830	.	.	.	4.94	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4129	0.44305	0.0:0.9075:0.0:0.0925	.	.	.	.	.	-1	.	.	.	-	.	.	SH2D3C	129576568	1.000000	0.71417	0.882000	0.34594	0.555000	0.35460	4.550000	0.60733	1.222000	0.43521	0.561000	0.74099	.		0.478	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489	Intron	6	40	0	0	0	1	0	6	40				
SULF1	23213	broad.mit.edu	37	8	70476248	70476248	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:70476248T>G	ENST00000260128.4	+	5	755	c.38T>G	c.(37-39)cTg>cGg	p.L13R	SULF1_ENST00000458141.2_Missense_Mutation_p.L13R|SULF1_ENST00000402687.4_Missense_Mutation_p.L13R|SULF1_ENST00000419716.3_Missense_Mutation_p.L13R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	13					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGGCTGTCCTGGGCACAGAA	0.468																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(37-39)cTg>cGg		sulfatase 1							141.0	126.0	131.0					8																	70476248		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70476248T>G	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.38T>G	8.37:g.70476248T>G	ENSP00000260128:p.Leu13Arg					SULF1_ENST00000402687.4_Missense_Mutation_p.L13R|SULF1_ENST00000419716.3_Missense_Mutation_p.L13R|SULF1_ENST00000458141.2_Missense_Mutation_p.L13R	p.L13R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		5	755	+	Breast(64;0.0654)		13					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.38T>G	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.956434	0.53293	.	.	ENSG00000137573	ENST00000525061;ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000534179;ENST00000528783;ENST00000525999	D;D;T;D;D;T;D	0.99167	-5.51;-5.51;0.46;-5.51;-5.51;0.41;-4.96	5.87	4.69	0.59074	.	0.153130	0.45361	N	0.000374	D	0.97648	0.9229	M	0.70275	2.135	0.36879	D	0.8893	P	0.39326	0.668	B	0.33295	0.161	D	0.97797	1.0242	10	0.72032	D	0.01	.	13.0422	0.58906	0.0:0.0:0.1344:0.8656	.	13	Q8IWU6	SULF1_HUMAN	R	13	ENSP00000403040:L13R;ENSP00000260128:L13R;ENSP00000432178:L13R;ENSP00000385704:L13R;ENSP00000390315:L13R;ENSP00000436949:L13R;ENSP00000431753:L13R	ENSP00000260128:L13R	L	+	2	0	SULF1	70638802	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.299000	0.65716	0.998000	0.38996	0.528000	0.53228	CTG		0.468	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		20	34	0	0	0	1	0	20	34				
DEPDC1	55635	broad.mit.edu	37	1	68954653	68954653	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:68954653C>G	ENST00000456315.2	-	4	650	c.536G>C	c.(535-537)aGa>aCa	p.R179T	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R179T	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	179					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GCTTAGTTCTCTATTATCAAT	0.299																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(535-537)aGa>aCa		DEP domain containing 1							131.0	124.0	127.0					1																	68954653		2202	4296	6498	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68954653C>G	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.536G>C	1.37:g.68954653C>G	ENSP00000412292:p.Arg179Thr					DEPDC1_ENST00000370966.5_Missense_Mutation_p.R179T	p.R179T	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	4	650	-			179					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.536G>C	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674719	0.47781	.	.	ENSG00000024526	ENST00000456315;ENST00000370966;ENST00000370964	T;T	0.16897	2.31;2.31	5.56	3.64	0.41730	.	0.237399	0.49305	D	0.000147	T	0.11922	0.0290	M	0.64170	1.965	0.35442	D	0.794991	P;P	0.52577	0.954;0.493	P;B	0.50136	0.632;0.109	T	0.05784	-1.0864	9	.	.	.	-2.0508	5.7975	0.18396	0.1371:0.6462:0.0:0.2166	.	179;179	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	T	179;179;124	ENSP00000412292:R179T;ENSP00000360005:R179T	.	R	-	2	0	DEPDC1	68727241	0.485000	0.25972	0.980000	0.43619	0.952000	0.60782	-0.151000	0.10175	0.770000	0.33336	0.650000	0.86243	AGA		0.299	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		11	41	0	0	0	1	0	11	41				
TRDMT1	1787	broad.mit.edu	37	10	17199512	17199512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:17199512G>T	ENST00000377799.3	-	8	862	c.815C>A	c.(814-816)tCa>tAa	p.S272*	TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.S149*|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.S248*|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.S226*|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.S191*|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000377766.5_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	272	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	TCGCAGCAATGACTTTGGTGG	0.393																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(814-816)tCa>tAa		tRNA aspartic acid methyltransferase 1							113.0	106.0	108.0					10																	17199512		2203	4300	6503	SO:0001587	stop_gained	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17199512G>T	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"""DNA (cytosine-5-)-methyltransferase 2"""	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.815C>A	10.37:g.17199512G>T	ENSP00000367030:p.Ser272*					TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.S248*|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.S226*|TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.S149*|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.S191*	p.S272*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN			8	862	-			272					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Nonsense_Mutation	SNP	ENST00000377799.3	37	c.815C>A	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648302	0.87958	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000488990	.	.	.	5.23	0.967	0.19674	.	0.429735	0.26804	N	0.022413	.	.	.	.	.	.	0.22127	N	0.99935	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.7335	7.1712	0.25719	0.1899:0.0:0.6895:0.1206	.	.	.	.	X	272;248;226;191;149	.	.	S	-	2	0	TRDMT1	17239518	0.989000	0.36119	0.008000	0.14137	0.636000	0.38137	2.155000	0.42301	-0.006000	0.14370	0.650000	0.86243	TCA		0.393	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		14	51	1	0	9.05144e-12	1	1.00016e-11	14	51				
CDH18	1016	broad.mit.edu	37	5	19571872	19571872	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr5:19571872G>A	ENST00000507958.1	-	10	2059	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	CDH18_ENST00000382275.1_Missense_Mutation_p.R357C|CDH18_ENST00000511273.1_Missense_Mutation_p.R357C|CDH18_ENST00000274170.4_Missense_Mutation_p.R357C|CDH18_ENST00000506372.1_Missense_Mutation_p.R357C|CDH18_ENST00000502796.1_Missense_Mutation_p.R357C			Q13634	CAD18_HUMAN	cadherin 18, type 2	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R357C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGAAAAGCGAAAATCAAGA	0.378																																						ENST00000507958.1																			1	Substitution - Missense(1)	p.R357C(1)	large_intestine(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1069-1071)Cgc>Tgc		cadherin 18, type 2							105.0	98.0	100.0					5																	19571872		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571872G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1069C>T	5.37:g.19571872G>A	ENSP00000425093:p.Arg357Cys					CDH18_ENST00000511273.1_Missense_Mutation_p.R357C|CDH18_ENST00000506372.1_Missense_Mutation_p.R357C|CDH18_ENST00000274170.4_Missense_Mutation_p.R357C|CDH18_ENST00000502796.1_Missense_Mutation_p.R357C|CDH18_ENST00000382275.1_Missense_Mutation_p.R357C	p.R357C			Q13634	CAD18_HUMAN			10	2059	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		357			Cadherin 3.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1069C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558408	0.86231	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.61627	0.16;0.16;0.16;0.13;0.14;0.3;0.09	5.17	4.25	0.50352	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.86571	0.1847	9	.	.	.	.	14.3707	0.66838	0.0:0.0:0.8523:0.1477	.	357;357	B4DHG6;Q13634	.;CAD18_HUMAN	C	357;357;357;357;357;357;303;357	ENSP00000371710:R357C;ENSP00000425093:R357C;ENSP00000274170:R357C;ENSP00000424931:R357C;ENSP00000422138:R357C;ENSP00000427383:R303C;ENSP00000425854:R357C	.	R	-	1	0	CDH18	19607629	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.162000	0.64942	2.591000	0.87537	0.655000	0.94253	CGC		0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		15	59	0	0	0	1	0	15	59				
PTK7	5754	broad.mit.edu	37	6	43096998	43096998	+	Silent	SNP	C	C	T	rs370537004		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:43096998C>T	ENST00000230419.4	+	2	584	c.363C>T	c.(361-363)atC>atT	p.I121I	PTK7_ENST00000352931.2_Silent_p.I121I|PTK7_ENST00000481273.1_Silent_p.I129I|PTK7_ENST00000471863.1_Silent_p.I121I|PTK7_ENST00000349241.2_Silent_p.I121I|PTK7_ENST00000345201.2_Silent_p.I121I|PTK7_ENST00000476760.1_Silent_p.I121I	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	121					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCTTCAACATCAAATGTGAGA	0.602																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(361-363)atC>atT		protein tyrosine kinase 7							33.0	33.0	33.0					6																	43096998		2203	4300	6503	SO:0001819	synonymous_variant	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43096998C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.363C>T	6.37:g.43096998C>T						PTK7_ENST00000352931.2_Silent_p.I121I|PTK7_ENST00000476760.1_Silent_p.I121I|PTK7_ENST00000471863.1_Silent_p.I121I|PTK7_ENST00000349241.2_Silent_p.I121I|PTK7_ENST00000345201.2_Silent_p.I121I|PTK7_ENST00000481273.1_Silent_p.I129I	p.I121I	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		2	584	+			121					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.363C>T	CCDS4884.1																																																																																				0.602	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			7	29	0	0	0	1	0	7	29				
FAM183B	340286	broad.mit.edu	37	7	38725414	38725414	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr7:38725414G>A	ENST00000409072.3	-	2	1126	c.192C>T	c.(190-192)gaC>gaT	p.D64D				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	64										endometrium(1)|lung(7)	8						GAAACCTGGCGTCTGCGGGTT	0.532																																						ENST00000409072.3																			0				endometrium(1)|lung(7)	8						c.(190-192)gaC>gaT		family with sequence similarity 183, member B							96.0	98.0	97.0					7																	38725414		1913	4104	6017	SO:0001819	synonymous_variant	340286							g.chr7:38725414G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.192C>T	7.37:g.38725414G>A							p.D64D							2	1126	-								A4D1Y1	Silent	SNP	ENST00000409072.3	37	c.192C>T																																																																																					0.532	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		27	50	0	0	0	1	0	27	50				
SLC15A2	6565	broad.mit.edu	37	3	121646627	121646627	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:121646627G>A	ENST00000489711.1	+	14	1535	c.1147G>A	c.(1147-1149)Ggt>Agt	p.G383S	SLC15A2_ENST00000295605.2_Missense_Mutation_p.G352S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	383					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AATGGCTGTTGGTATGATCCT	0.383																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1147-1149)Ggt>Agt		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						111.0	107.0	109.0					3																	121646627		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121646627G>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1147G>A	3.37:g.121646627G>A	ENSP00000417085:p.Gly383Ser					SLC15A2_ENST00000295605.2_Missense_Mutation_p.G352S	p.G383S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	14	1535	+			383					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1147G>A	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293292	0.95546	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.05513	3.43;3.43	5.04	5.04	0.67666	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	T	0.52793	-0.8528	10	0.87932	D	0	-10.5772	15.9276	0.79632	0.0:0.0:1.0:0.0	.	352;383	B4E2A7;Q16348	.;S15A2_HUMAN	S	383;345;352	ENSP00000417085:G383S;ENSP00000295605:G352S	ENSP00000295605:G352S	G	+	1	0	SLC15A2	123129317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.435000	0.90297	2.628000	0.89032	0.655000	0.94253	GGT		0.383	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		11	26	0	0	0	1	0	11	26				
FZD6	8323	broad.mit.edu	37	8	104337688	104337688	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:104337688G>C	ENST00000358755.4	+	4	1671	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H	FZD6_ENST00000522566.1_Missense_Mutation_p.D452H|FZD6_ENST00000540287.1_Missense_Mutation_p.D147H|FZD6_ENST00000523739.1_Missense_Mutation_p.D420H	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	452					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTGGGTCTCTGATCATTGTCG	0.398																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1354-1356)Gat>Cat		frizzled family receptor 6							148.0	126.0	134.0					8																	104337688		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337688G>C	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1354G>C	8.37:g.104337688G>C	ENSP00000351605:p.Asp452His					FZD6_ENST00000522566.1_Missense_Mutation_p.D452H|FZD6_ENST00000540287.1_Missense_Mutation_p.D147H|FZD6_ENST00000523739.1_Missense_Mutation_p.D420H	p.D452H	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1671	+			452					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1354G>C	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211290	0.79240	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.87030	0.6076	L	0.31065	0.9	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.79784	0.984;0.988;0.993;0.984	D	0.84542	0.0639	10	0.33141	T	0.24	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	397;147;452;452	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	H	452;452;420;147;397	ENSP00000429055:D452H;ENSP00000351605:D452H;ENSP00000429528:D420H;ENSP00000443757:D147H	ENSP00000351605:D452H	D	+	1	0	FZD6	104406864	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.954000	0.87848	2.868000	0.98415	0.557000	0.71058	GAT		0.398	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		32	169	0	0	0	1	0	32	169				
C1QTNF7	114905	broad.mit.edu	37	4	15437537	15437537	+	Missense_Mutation	SNP	G	G	A	rs137951137	byFrequency	TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:15437537G>A	ENST00000444304.2	+	2	496	c.170G>A	c.(169-171)cGc>cAc	p.R57H	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.R64H|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R57H			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	57	Collagen-like.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCCCATGGTCGCATCGGCCTT	0.542																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(190-192)cGc>cAc		C1q and tumor necrosis factor related protein 7							47.0	49.0	48.0					4																	15437537		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15437537G>A	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.170G>A	4.37:g.15437537G>A	ENSP00000388914:p.Arg57His					C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R57H|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R57H	p.R64H	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			2	450	+			57			Collagen-like.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.191G>A	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007594	0.35415	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	5.83	5.83	0.93111	.	0.111783	0.64402	D	0.000007	D	0.85401	0.5688	N	0.21282	0.65	0.43234	D	0.995131	B	0.15141	0.012	B	0.08055	0.003	T	0.78727	-0.2091	10	0.25106	T	0.35	.	20.1356	0.98028	0.0:0.0:1.0:0.0	.	57	Q9BXJ2	C1QT7_HUMAN	H	64;64;57;57;57	ENSP00000380812:R64H;ENSP00000295297:R64H;ENSP00000371820:R57H;ENSP00000410722:R57H;ENSP00000388914:R57H	ENSP00000295297:R64H	R	+	2	0	C1QTNF7	15046635	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.206000	0.72154	2.755000	0.94549	0.650000	0.86243	CGC		0.542	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			14	30	0	0	0	1	0	14	30				
ARL5A	26225	broad.mit.edu	37	2	152670738	152670738	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:152670738A>G	ENST00000295087.8	-	3	511	c.200T>C	c.(199-201)aTt>aCt	p.I67T	ARL5A_ENST00000428992.2_Missense_Mutation_p.I30T	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	67					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TTGGCCACCAATATCCCACAT	0.338																																						ENST00000295087.8																			0				breast(1)|large_intestine(2)|liver(1)|lung(2)	6						c.(199-201)aTt>aCt		ADP-ribosylation factor-like 5A							115.0	119.0	118.0					2																	152670738		2203	4297	6500	SO:0001583	missense	26225				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr2:152670738A>G	AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.200T>C	2.37:g.152670738A>G	ENSP00000295087:p.Ile67Thr					ARL5A_ENST00000428992.2_Missense_Mutation_p.I30T	p.I67T	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.153)	3	511	-			67					Q580I5	Missense_Mutation	SNP	ENST00000295087.8	37	c.200T>C	CCDS2195.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.838973	0.71373	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	T;T	0.68181	-0.31;-0.31	5.38	5.38	0.77491	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	M	0.88640	2.97	0.80722	D	1	B	0.17038	0.02	P	0.56474	0.799	D	0.86597	0.1864	10	0.87932	D	0	-15.401	15.395	0.74784	1.0:0.0:0.0:0.0	.	67	Q9Y689	ARL5A_HUMAN	T	67;30;30	ENSP00000295087:I67T;ENSP00000415950:I30T	ENSP00000295087:I67T	I	-	2	0	ARL5A	152378984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	2.055000	0.61198	0.459000	0.35465	ATT		0.338	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254837.1			23	72	0	0	0	1	0	23	72				
SMC5	23137	broad.mit.edu	37	9	72913017	72913017	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:72913017C>G	ENST00000361138.5	+	9	1247	c.1189C>G	c.(1189-1191)Cag>Gag	p.Q397E		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	397					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CGAGAATCTTCAGCCCCAGAT	0.413																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(1189-1191)Cag>Gag		structural maintenance of chromosomes 5							118.0	108.0	111.0					9																	72913017		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72913017C>G	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1189C>G	9.37:g.72913017C>G	ENSP00000354957:p.Gln397Glu						p.Q397E	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			9	1247	+			397					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.1189C>G	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592539	0.66219	.	.	ENSG00000198887	ENST00000361138	T	0.18338	2.22	5.92	5.92	0.95590	RecF/RecN/SMC (1);	0.337468	0.33199	N	0.005166	T	0.31796	0.0808	L	0.60455	1.87	0.44373	D	0.997273	D	0.59357	0.985	P	0.55824	0.785	T	0.02307	-1.1179	10	0.09084	T	0.74	-13.2923	20.3109	0.98641	0.0:1.0:0.0:0.0	.	397	Q8IY18	SMC5_HUMAN	E	397	ENSP00000354957:Q397E	ENSP00000354957:Q397E	Q	+	1	0	SMC5	72102837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.158000	0.58150	2.813000	0.96785	0.591000	0.81541	CAG		0.413	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		19	88	0	0	0	1	0	19	88				
GRIK2	2898	broad.mit.edu	37	6	102074444	102074444	+	Missense_Mutation	SNP	G	G	A	rs376865962		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:102074444G>A	ENST00000421544.1	+	3	963	c.473G>A	c.(472-474)cGt>cAt	p.R158H	GRIK2_ENST00000369138.1_Missense_Mutation_p.R158H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R158H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R158H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R158H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R109H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R158H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	158					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R158H(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCACTCAGCCGTGCCATTTTA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16519	0.0		0.0	False		,,,				2504	0.0					ENST00000369138.1																			2	Substitution - Missense(2)	p.R158H(2)	large_intestine(2)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(472-474)cGt>cAt		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	93.0	92.0		473,473,473	5.8	1.0	6		92	0,8600		0,0,4300	no	missense,missense,missense	GRIK2	NM_175768.3,NM_021956.4,NM_001166247.1	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	158/870,158/909,158/893	102074444	1,13005	2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074444G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.473G>A	6.37:g.102074444G>A	ENSP00000397026:p.Arg158His					GRIK2_ENST00000318991.6_Missense_Mutation_p.R158H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R158H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R158H|GRIK2_ENST00000358361.3_Missense_Mutation_p.R158H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R158H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R109H	p.R158H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	963	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	158					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.473G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415342	0.62511	2.27E-4	0.0	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	L	0.31664	0.95	0.54753	D	0.999987	B;B;B	0.17038	0.016;0.02;0.016	B;B;B	0.13407	0.008;0.009;0.008	T	0.62534	-0.6834	10	0.31617	T	0.26	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	158;158;158	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	158;158;158;158;158;158;158;109;120	ENSP00000397026:R158H;ENSP00000405596:R158H;ENSP00000358134:R158H;ENSP00000351128:R158H;ENSP00000358133:R158H;ENSP00000313276:R158H;ENSP00000358130:R109H	ENSP00000313276:R158H	R	+	2	0	GRIK2	102181137	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.476000	0.97823	2.718000	0.92993	0.655000	0.94253	CGT		0.473	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			11	41	0	0	0	1	0	11	41				
DCAF12L2	340578	broad.mit.edu	37	X	125298868	125298868	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chrX:125298868C>G	ENST00000360028.2	-	1	1066	c.1040G>C	c.(1039-1041)cGa>cCa	p.R347P	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R347P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	347										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCACCCTCTCGAGAGCACAG	0.622																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1039-1041)cGa>cCa		DDB1 and CUL4 associated factor 12-like 2							47.0	51.0	50.0					X																	125298868		2203	4299	6502	SO:0001583	missense	340578							g.chrX:125298868C>G	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1040G>C	X.37:g.125298868C>G	ENSP00000353128:p.Arg347Pro					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R347P	p.R347P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1120	-			347					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1040G>C	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918288	0.33908	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.62941	-0.01;-0.01	3.95	3.08	0.35506	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.625196	0.12151	N	0.494884	T	0.61788	0.2375	M	0.69185	2.1	0.29199	N	0.875359	D	0.55385	0.971	P	0.46320	0.512	T	0.55535	-0.8126	10	0.33141	T	0.24	.	8.7917	0.34854	0.0:0.8829:0.0:0.1171	.	347	Q5VW00	DC122_HUMAN	P	347	ENSP00000441489:R347P;ENSP00000353128:R347P	ENSP00000353128:R347P	R	-	2	0	DCAF12L2	125126549	0.577000	0.26708	0.005000	0.12908	0.154000	0.21943	3.808000	0.55598	1.010000	0.39314	0.544000	0.68410	CGA		0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		23	25	0	0	0	1	0	23	25				
PIP5K1B	8395	broad.mit.edu	37	9	71491598	71491598	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:71491598G>T	ENST00000265382.3	+	6	511	c.206G>T	c.(205-207)gGg>gTg	p.G69V	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G69V	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	69	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTCAGCGAAGGGAGCAATCTG	0.398																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(205-207)gGg>gTg		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							100.0	101.0	101.0					9																	71491598		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71491598G>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.206G>T	9.37:g.71491598G>T	ENSP00000265382:p.Gly69Val					PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G69V	p.G69V	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	6	511	+			69			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.206G>T	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271504	0.80469	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747;ENST00000377284;ENST00000437200;ENST00000440050	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.68	4.79	0.61399	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.096480	0.64402	D	0.000001	T	0.59211	0.2177	H	0.96208	3.785	0.80722	D	1	P	0.43973	0.823	P	0.49451	0.611	T	0.73297	-0.4027	10	0.87932	D	0	-20.2834	14.5905	0.68362	0.0699:0.0:0.9301:0.0	.	69	O14986	PI51B_HUMAN	V	69;69;69;16;69;69;69	ENSP00000438082:G69V;ENSP00000265382:G69V;ENSP00000366498:G69V;ENSP00000398587:G69V;ENSP00000411477:G69V	ENSP00000265382:G69V	G	+	2	0	PIP5K1B	70681418	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.607000	0.98328	1.426000	0.47256	0.585000	0.79938	GGG		0.398	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		20	48	1	0	8.28177e-16	1	9.20197e-16	20	48				
F13A1	2162	broad.mit.edu	37	6	6225053	6225053	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:6225053C>A	ENST00000264870.3	-	7	1104	c.839G>T	c.(838-840)tGg>tTg	p.W280L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	280					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GATATTGTCCCAGGATCCAAC	0.498																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(838-840)tGg>tTg		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						112.0	101.0	105.0					6																	6225053		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6225053C>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.839G>T	6.37:g.6225053C>A	ENSP00000264870:p.Trp280Leu						p.W280L	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			7	1104	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	280					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.839G>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018989	0.93462	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.91068	-2.78	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96959	0.9007	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97955	1.0334	10	0.87932	D	0	.	18.4123	0.90555	0.0:1.0:0.0:0.0	.	217;280	F5H080;P00488	.;F13A_HUMAN	L	280;217	ENSP00000264870:W280L	ENSP00000264870:W280L	W	-	2	0	F13A1	6170052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.307000	0.78920	2.577000	0.86979	0.563000	0.77884	TGG		0.498	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		19	51	1	0	1.15919e-05	1	1.22665e-05	19	51				
SRSF12	135295	broad.mit.edu	37	6	89808522	89808522	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:89808522C>G	ENST00000452027.2	-	5	754	c.561G>C	c.(559-561)aaG>aaC	p.K187N		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	187	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACTTGGACCTCTTTTGTAAGG	0.438																																						ENST00000452027.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						c.(559-561)aaG>aaC		serine/arginine-rich splicing factor 12							368.0	344.0	352.0					6																	89808522		1907	4128	6035	SO:0001583	missense	135295				assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome	nucleoplasm	nucleotide binding|RNA binding|RS domain binding|unfolded protein binding	g.chr6:89808522C>G	AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.561G>C	6.37:g.89808522C>G	ENSP00000414302:p.Lys187Asn						p.K187N	NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN			5	754	-			187			Arg/Ser-rich (RS domain).		B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	ENST00000452027.2	37	c.561G>C	CCDS47459.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540004	0.27563	.	.	ENSG00000154548	ENST00000452027	T	0.07444	3.19	5.22	2.85	0.33270	.	0.165679	0.42548	D	0.000694	T	0.02571	0.0078	L	0.54323	1.7	0.29228	N	0.873454	P	0.37781	0.608	B	0.37943	0.261	T	0.43669	-0.9377	10	0.15499	T	0.54	.	7.5327	0.27691	0.0:0.1719:0.0:0.8281	.	187	Q8WXF0	SRS12_HUMAN	N	187	ENSP00000414302:K187N	ENSP00000414302:K187N	K	-	3	2	SRSF12	89865241	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.084000	0.30828	0.470000	0.27294	-1.076000	0.02234	AAG		0.438	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041474.2	NM_080743		56	177	0	0	0	1	0	56	177				
ZNF142	7701	broad.mit.edu	37	2	219520929	219520929	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:219520929A>T	ENST00000449707.1	-	4	645	c.224T>A	c.(223-225)aTc>aAc	p.I75N	ZNF142_ENST00000411696.2_Missense_Mutation_p.I75N	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTCCACAATGATCTCCATGTT	0.592																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(223-225)aTc>aAc		zinc finger protein 142							71.0	73.0	73.0					2																	219520929		2037	4180	6217	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219520929A>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.224T>A	2.37:g.219520929A>T	ENSP00000408643:p.Ile75Asn					ZNF142_ENST00000449707.1_Missense_Mutation_p.I75N	p.I75N			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	1003	-		Renal(207;0.0474)	75					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.224T>A	CCDS42817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.275522|4.275522	0.80580|0.80580	.|.	.|.	ENSG00000115568|ENSG00000115568	ENST00000440934|ENST00000449707;ENST00000411696	.|T;T	.|0.25749	.|1.78;1.78	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.334028	.|0.32640	.|N	.|0.005835	T|T	0.37839|0.37839	0.1018|0.1018	L|L	0.32530|0.32530	0.975|0.975	0.32004|0.32004	N|N	0.603009|0.603009	.|D	.|0.71674	.|0.998	.|D	.|0.78314	.|0.991	T|T	0.38329|0.38329	-0.9666|-0.9666	5|10	.|0.33940	.|T	.|0.23	-5.0243|-5.0243	13.0769|13.0769	0.59091|0.59091	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|75	.|P52746	.|ZN142_HUMAN	E|N	66|75	.|ENSP00000408643:I75N;ENSP00000398798:I75N	.|ENSP00000398798:I75N	D|I	-|-	3|2	2|0	ZNF142|ZNF142	219229173|219229173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.782000|4.782000	0.62396|0.62396	2.224000|2.224000	0.72417|0.72417	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.592	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		8	42	0	0	0	1	0	8	42				
COL22A1	169044	broad.mit.edu	37	8	139788219	139788219	+	Missense_Mutation	SNP	C	C	T	rs201581690		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:139788219C>T	ENST00000303045.6	-	16	2239	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.R598Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	598	Collagen-like 3.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCTCCTCGAGTTCCCTT	0.493										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1792-1794)cGa>cAa		collagen, type XXII, alpha 1							303.0	257.0	272.0					8																	139788219		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139788219C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1793G>A	8.37:g.139788219C>T	ENSP00000303153:p.Arg598Gln	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.R598Q	p.R598Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		16	2239	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		598			Collagen-like 3.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1793G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.128881	0.37533	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.93307	-3.2;-3.2	4.41	-3.11	0.05299	.	1.119980	0.06992	N	0.821803	D	0.84790	0.5550	N	0.21373	0.66	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.69599	-0.5102	10	0.23302	T	0.38	.	5.5749	0.17218	0.0:0.3081:0.2867:0.4053	.	598	Q8NFW1	COMA1_HUMAN	Q	598	ENSP00000303153:R598Q;ENSP00000387655:R598Q	ENSP00000303153:R598Q	R	-	2	0	COL22A1	139857401	0.004000	0.15560	0.004000	0.12327	0.813000	0.45954	-1.001000	0.03690	-0.682000	0.05197	-0.749000	0.03505	CGA		0.493	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		19	73	0	0	0	1	0	19	73				
UHRF1	29128	broad.mit.edu	37	19	4950635	4950635	+	RNA	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:4950635C>G	ENST00000592666.1	+	0	2106							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGCTGGCTCTCAACTGCTTTG	0.607																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							29.0	32.0	31.0					19																	4950635		2002	4172	6174			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4950635C>G	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4950635C>G										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	2106	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37																																																																																						0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		15	22	0	0	0	1	0	15	22				
FARS2	10667	broad.mit.edu	37	6	5771587	5771587	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:5771587G>C	ENST00000324331.6	+	7	1617	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	FARS2_ENST00000274680.4_Missense_Mutation_p.Q427H			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	427	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTCTGTCCCAGAGAGAGGTCA	0.592																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(1279-1281)caG>caC		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						174.0	133.0	147.0					6																	5771587		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5771587G>C	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1281G>C	6.37:g.5771587G>C	ENSP00000316335:p.Gln427His					FARS2_ENST00000274680.4_Missense_Mutation_p.Q427H	p.Q427H			O95363	SYFM_HUMAN			7	1617	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	427			FDX-ACB.		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.1281G>C	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712945	0.48517	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.76709	-1.04;-1.04	5.81	4.93	0.64822	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.072326	0.56097	N	0.000033	T	0.74199	0.3685	L	0.42245	1.32	0.54753	D	0.999988	D	0.55605	0.972	P	0.54815	0.761	T	0.77230	-0.2664	10	0.52906	T	0.07	-24.1225	15.546	0.76101	0.0:0.1385:0.8615:0.0	.	427	O95363	SYFM_HUMAN	H	427	ENSP00000274680:Q427H;ENSP00000316335:Q427H	ENSP00000274680:Q427H	Q	+	3	2	FARS2	5716586	1.000000	0.71417	0.941000	0.38009	0.927000	0.56198	4.531000	0.60602	1.419000	0.47118	0.655000	0.94253	CAG		0.592	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		12	28	0	0	0	1	0	12	28				
TPX2	22974	broad.mit.edu	37	20	30365422	30365422	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr20:30365422G>T	ENST00000300403.6	+	9	1391	c.863G>T	c.(862-864)cGa>cTa	p.R288L	TPX2_ENST00000340513.4_Missense_Mutation_p.R288L	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	288					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TCTGAACTACGAAAGCATCCT	0.373																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(862-864)cGa>cTa		TPX2, microtubule-associated							117.0	97.0	104.0					20																	30365422		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30365422G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.863G>T	20.37:g.30365422G>T	ENSP00000300403:p.Arg288Leu					TPX2_ENST00000300403.6_Missense_Mutation_p.R288L	p.R288L			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		9	1391	+			288					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.863G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686807	0.88639	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.79940	-1.32	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.90027	0.6886	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.90754	0.4659	10	0.72032	D	0.01	-1.4606	18.4515	0.90705	0.0:0.0:1.0:0.0	.	288;288	Q96RR5;Q9ULW0	.;TPX2_HUMAN	L	288	ENSP00000341145:R288L	ENSP00000300403:R288L	R	+	2	0	TPX2	29829083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.416000	0.80143	2.675000	0.91044	0.655000	0.94253	CGA		0.373	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			20	42	1	0	2.32416e-17	1	2.59682e-17	20	42				
VPS13B	157680	broad.mit.edu	37	8	100127959	100127959	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:100127959C>G	ENST00000358544.2	+	7	905	c.794C>G	c.(793-795)tCt>tGt	p.S265C	VPS13B_ENST00000395996.1_Missense_Mutation_p.S265C|VPS13B_ENST00000355155.1_Missense_Mutation_p.S265C|VPS13B_ENST00000441350.2_Missense_Mutation_p.S265C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S265C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	265					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGAAACTTTCTATCACAGAT	0.303																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(793-795)tCt>tGt		vacuolar protein sorting 13 homolog B (yeast)							79.0	81.0	80.0					8																	100127959		2202	4295	6497	SO:0001583	missense	157680				protein transport			g.chr8:100127959C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.794C>G	8.37:g.100127959C>G	ENSP00000351346:p.Ser265Cys					VPS13B_ENST00000355155.1_Missense_Mutation_p.S265C|VPS13B_ENST00000441350.2_Missense_Mutation_p.S265C|VPS13B_ENST00000358544.2_Missense_Mutation_p.S265C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S265C	p.S265C			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		7	905	+	Breast(36;3.73e-07)		265					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.794C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678956	0.88542	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.84800	-1.38;-0.72;-0.71;-0.41;-1.9	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	D	0.92215	0.7531	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.996;0.998;0.998;0.991	D	0.92716	0.6187	10	0.87932	D	0	.	19.2956	0.94120	0.0:1.0:0.0:0.0	.	265;265;265;265;265	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	C	265	ENSP00000347281:S265C;ENSP00000349685:S265C;ENSP00000351346:S265C;ENSP00000379318:S265C;ENSP00000398472:S265C	ENSP00000347281:S265C	S	+	2	0	VPS13B	100197135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.572000	0.86782	0.655000	0.94253	TCT		0.303	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		15	70	0	0	0	1	0	15	70				
FUCA2	2519	broad.mit.edu	37	6	143816918	143816918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:143816918C>A	ENST00000002165.6	-	7	1385	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	444					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TGTGGCAGTTCTACCATAATG	0.453																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1330-1332)Gaa>Taa		fucosidase, alpha-L- 2, plasma							115.0	99.0	104.0					6																	143816918		2203	4300	6503	SO:0001587	stop_gained	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143816918C>A	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1330G>T	6.37:g.143816918C>A	ENSP00000002165:p.Glu444*					RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	p.E444*	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	7	1385	-			444					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Nonsense_Mutation	SNP	ENST00000002165.6	37	c.1330G>T	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867200	0.72065	.	.	ENSG00000001036	ENST00000002165	.	.	.	5.44	-2.9	0.05648	.	1.049200	0.07352	N	0.882500	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-3.9762	9.7801	0.40643	0.0:0.3071:0.5089:0.184	.	.	.	.	X	444	.	ENSP00000002165:E444X	E	-	1	0	FUCA2	143858611	0.000000	0.05858	0.003000	0.11579	0.253000	0.25986	-0.657000	0.05335	-0.614000	0.05687	0.650000	0.86243	GAA		0.453	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		12	30	1	0	5.50884e-06	1	5.86046e-06	12	30				
MPDZ	8777	broad.mit.edu	37	9	13121779	13121779	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:13121779C>G	ENST00000319217.7	-	38	5437	c.5190G>C	c.(5188-5190)aaG>aaC	p.K1730N	MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000536827.1_Missense_Mutation_p.K1697N|MPDZ_ENST00000546205.1_Missense_Mutation_p.K1744N|MPDZ_ENST00000541718.1_Missense_Mutation_p.K1730N|MPDZ_ENST00000447879.1_Missense_Mutation_p.K1697N|MPDZ_ENST00000538841.1_Missense_Mutation_p.K589N|MPDZ_ENST00000381015.4_Missense_Mutation_p.K1730N|MPDZ_ENST00000381022.2_Missense_Mutation_p.K1730N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1730	PDZ 11. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTCCCGGCTTCTTCTGCAGCT	0.478																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(5188-5190)aaG>aaC		multiple PDZ domain protein							122.0	116.0	118.0					9																	13121779		1960	4153	6113	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13121779C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5190G>C	9.37:g.13121779C>G	ENSP00000320006:p.Lys1730Asn					MPDZ_ENST00000536827.1_Missense_Mutation_p.K1697N|MPDZ_ENST00000541718.1_Missense_Mutation_p.K1730N|MPDZ_ENST00000381022.2_Missense_Mutation_p.K1730N|MPDZ_ENST00000538841.1_Missense_Mutation_p.K589N|MPDZ_ENST00000546205.1_Missense_Mutation_p.K1744N|MPDZ_ENST00000381015.4_Missense_Mutation_p.K1730N|MPDZ_ENST00000447879.1_Missense_Mutation_p.K1697N|MPDZ_ENST00000541093.1_5'UTR	p.K1730N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	38	5437	-			1730			PDZ 11.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5190G>C		.	.	.	.	.	.	.	.	.	.	C	20.1	3.935132	0.73442	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	6.06	3.23	0.37069	PDZ/DHR/GLGF (3);	0.000000	0.49305	D	0.000152	T	0.57417	0.2052	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.996;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.987;0.967;0.995;0.988;0.993;0.988;0.996	T	0.61554	-0.7039	10	0.87932	D	0	.	8.9224	0.35619	0.0:0.722:0.0:0.278	.	1697;589;435;1697;1610;1730;1730	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	N	1730;1730;1730;271;666;589;1697;1697;1730;1610;1744	ENSP00000320006:K1730N;ENSP00000439807:K1730N;ENSP00000370410:K1730N;ENSP00000415964:K271N;ENSP00000444230:K666N;ENSP00000444717:K589N;ENSP00000444151:K1697N;ENSP00000415208:K1697N;ENSP00000370403:K1730N;ENSP00000446358:K1744N	ENSP00000320006:K1730N	K	-	3	2	MPDZ	13111779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.012000	0.29924	0.887000	0.36136	0.655000	0.94253	AAG		0.478	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		11	52	0	0	0	1	0	11	52				
RB1CC1	9821	broad.mit.edu	37	8	53569561	53569561	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:53569561G>A	ENST00000025008.5	-	15	3351	c.2828C>T	c.(2827-2829)tCt>tTt	p.S943F	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S943F|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S943F	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	943					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACAATTTTGAGAGTGCATTAT	0.323																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(2827-2829)tCt>tTt		RB1-inducible coiled-coil 1							78.0	79.0	78.0					8																	53569561		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569561G>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2828C>T	8.37:g.53569561G>A	ENSP00000025008:p.Ser943Phe					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S943F|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S943F	p.S943F	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			15	3351	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	943					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.2828C>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	G	5.864	0.343589	0.11126	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04317	3.65;3.65;3.65	5.26	1.92	0.25849	.	0.612829	0.17998	N	0.154997	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B;B	0.27117	0.168;0.105	B;B	0.30495	0.116;0.054	T	0.40997	-0.9533	10	0.62326	D	0.03	-4.9675	9.1029	0.36681	0.0:0.2118:0.532:0.2562	.	943;943	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	F	943	ENSP00000025008:S943F;ENSP00000396067:S943F;ENSP00000445960:S943F	ENSP00000025008:S943F	S	-	2	0	RB1CC1	53732114	0.043000	0.20138	0.003000	0.11579	0.629000	0.37895	1.837000	0.39201	0.690000	0.31570	0.557000	0.71058	TCT		0.323	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		11	41	0	0	0	1	0	11	41				
SH2B1	25970	broad.mit.edu	37	16	28884863	28884863	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:28884863G>C	ENST00000322610.8	+	11	2432	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000563674.1_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	665					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAGGGCGCCAGAAGTGGCGGC	0.657																																						ENST00000322610.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1993-1995)Gaa>Caa		SH2B adaptor protein 1							31.0	68.0	57.0					16																	28884863		692	1591	2283	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28884863G>C	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1993G>C	16.37:g.28884863G>C	ENSP00000321221:p.Glu665Gln					SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000395532.4_3'UTR	p.E665Q			Q9NRF2	SH2B1_HUMAN			11	2432	+			665					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1993G>C	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472384	0.43942	.	.	ENSG00000178188	ENST00000322610	T	0.46819	0.86	4.99	4.99	0.66335	.	0.596241	0.15243	N	0.272758	T	0.41949	0.1181	N	0.14661	0.345	0.80722	D	1	D	0.58268	0.982	P	0.52554	0.702	T	0.11891	-1.0569	10	0.16896	T	0.51	-32.4779	15.5589	0.76223	0.0:0.0:1.0:0.0	.	665	Q9NRF2	SH2B1_HUMAN	Q	665	ENSP00000321221:E665Q	ENSP00000321221:E665Q	E	+	1	0	SH2B1	28792364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.874000	0.28065	2.477000	0.83638	0.591000	0.81541	GAA		0.657	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		4	19	0	0	0	1	0	4	19				
LARS	51520	broad.mit.edu	37	5	145529194	145529194	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr5:145529194C>G	ENST00000394434.2	-	15	1660	c.1494G>C	c.(1492-1494)atG>atC	p.M498I	LARS_ENST00000274562.9_Missense_Mutation_p.M471I|LARS_ENST00000510191.1_Missense_Mutation_p.M444I|LARS_ENST00000545646.1_Missense_Mutation_p.M452I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	498	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGCGTCAATCATCTTTTTCT	0.383																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1492-1494)atG>atC		leucyl-tRNA synthetase	L-Leucine(DB00149)						262.0	254.0	257.0					5																	145529194		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145529194C>G	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1494G>C	5.37:g.145529194C>G	ENSP00000377954:p.Met498Ile					LARS_ENST00000510191.1_Missense_Mutation_p.M444I|LARS_ENST00000545646.1_Missense_Mutation_p.M452I|LARS_ENST00000274562.9_Missense_Mutation_p.M471I	p.M498I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	1660	-			498			Editing domain.		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.1494G>C	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487497	0.84854	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.2	5.2	0.72013	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	M	0.70275	2.135	0.80722	D	1	P;D;B	0.53745	0.907;0.962;0.382	P;D;B	0.68765	0.786;0.96;0.368	D	0.85967	0.1474	10	0.54805	T	0.06	-12.6198	19.0863	0.93204	0.0:1.0:0.0:0.0	.	471;452;498	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	I	498;452;444;471	ENSP00000377954:M498I;ENSP00000437791:M452I;ENSP00000426005:M444I;ENSP00000274562:M471I	ENSP00000274562:M471I	M	-	3	0	LARS	145509387	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.430000	0.66501	2.587000	0.87381	0.655000	0.94253	ATG		0.383	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		16	72	0	0	0	1	0	16	72				
C1S	716	broad.mit.edu	37	12	7172550	7172550	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:7172550G>T	ENST00000406697.1	+	9	1292	c.664G>T	c.(664-666)Gat>Tat	p.D222Y	C1S_ENST00000402681.3_Missense_Mutation_p.D55Y|C1S_ENST00000360817.5_Missense_Mutation_p.D222Y|C1S_ENST00000328916.3_Missense_Mutation_p.D222Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	222	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCGGAGAGAAGATTTTGATGT	0.468																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(664-666)Gat>Tat		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						133.0	136.0	135.0					12																	7172550		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172550G>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.664G>T	12.37:g.7172550G>T	ENSP00000385035:p.Asp222Tyr					C1S_ENST00000360817.5_Missense_Mutation_p.D222Y|C1S_ENST00000328916.3_Missense_Mutation_p.D222Y|C1S_ENST00000402681.3_Missense_Mutation_p.D55Y	p.D222Y			P09871	C1S_HUMAN			9	1292	+			222			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.664G>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608922	0.66558	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000402681;ENST00000542978	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	6.17	6.17	0.99709	CUB (5);	0.000000	0.44097	D	0.000498	T	0.32255	0.0823	M	0.69823	2.125	0.58432	D	0.999997	B	0.28760	0.221	B	0.39771	0.309	T	0.13710	-1.0499	10	0.06099	T	0.92	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	222	P09871	C1S_HUMAN	Y	222;222;222;55;55	ENSP00000385035:D222Y;ENSP00000328173:D222Y;ENSP00000354057:D222Y;ENSP00000384171:D55Y;ENSP00000442298:D55Y	ENSP00000328173:D222Y	D	+	1	0	C1S	7042811	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	5.426000	0.66476	2.941000	0.99782	0.655000	0.94253	GAT		0.468	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		12	36	1	0	0.00136819	1	0.00141051	12	36				
GPR149	344758	broad.mit.edu	37	3	154055808	154055808	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:154055808C>G	ENST00000389740.2	-	4	1975	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	626					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTCATTATCACAAATTTCA	0.423																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1876-1878)Gat>Cat		G protein-coupled receptor 149							106.0	97.0	100.0					3																	154055808		1886	4120	6006	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055808C>G	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1876G>C	3.37:g.154055808C>G	ENSP00000374390:p.Asp626His						p.D626H	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1975	-			626						Missense_Mutation	SNP	ENST00000389740.2	37	c.1876G>C	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475178	0.84640	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.58013	0.831	T	0.66504	-0.5907	9	0.87932	D	0	-9.197	19.8361	0.96658	0.0:1.0:0.0:0.0	.	626	Q86SP6	GP149_HUMAN	H	626	.	ENSP00000374390:D626H	D	-	1	0	GPR149	155538502	1.000000	0.71417	0.963000	0.40424	0.984000	0.73092	7.494000	0.81503	2.703000	0.92315	0.650000	0.86243	GAT		0.423	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		21	81	0	0	0	1	0	21	81				
TRIM14	9830	broad.mit.edu	37	9	100857233	100857233	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:100857233C>T	ENST00000341469.2	-	4	625	c.616G>A	c.(616-618)Gag>Aag	p.E206K	TRIM14_ENST00000375098.3_Missense_Mutation_p.E206K|TRIM14_ENST00000538344.1_5'Flank|TRIM14_ENST00000342043.3_Missense_Mutation_p.E206K	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	206					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				TTGACGGGCTCAAAGGAGAGG	0.587																																					Colon(14;460 597 13826 51781)	ENST00000341469.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(616-618)Gag>Aag		tripartite motif containing 14							100.0	92.0	95.0					9																	100857233		2203	4300	6503	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100857233C>T	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.616G>A	9.37:g.100857233C>T	ENSP00000344208:p.Glu206Lys					TRIM14_ENST00000342043.3_Missense_Mutation_p.E206K|TRIM14_ENST00000375098.3_Missense_Mutation_p.E206K	p.E206K	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN			4	625	-		Acute lymphoblastic leukemia(62;0.0559)	206					A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.616G>A	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762315	0.49468	.	.	ENSG00000106785	ENST00000375098;ENST00000311688;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.57273	0.41;0.41;0.41	5.49	5.49	0.81192	.	0.238552	0.35646	N	0.003076	T	0.71324	0.3326	M	0.66939	2.045	0.80722	D	1	D;D;P;P	0.71674	0.998;0.996;0.819;0.578	D;P;B;B	0.78314	0.991;0.907;0.412;0.322	T	0.73924	-0.3829	10	0.87932	D	0	.	16.846	0.85981	0.0:1.0:0.0:0.0	.	49;206;206;206	F8W956;Q14142-2;Q548W9;Q14142	.;.;.;TRI14_HUMAN	K	206;49;206;206;206;206	ENSP00000364239:E206K;ENSP00000344208:E206K;ENSP00000343990:E206K	ENSP00000307909:E49K	E	-	1	0	TRIM14	99897054	0.999000	0.42202	0.995000	0.50966	0.550000	0.35303	4.971000	0.63749	2.568000	0.86640	0.561000	0.74099	GAG		0.587	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		42	47	0	0	0	1	0	42	47				
PXDNL	137902	broad.mit.edu	37	8	52370181	52370181	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:52370181C>T	ENST00000356297.4	-	9	959	c.859G>A	c.(859-861)Gat>Aat	p.D287N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D287N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	287	Ig-like C2-type 1.				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)				AGTGTGCCATCATCAAACACA	0.413																																						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.(859-861)Gat>Aat		peroxidasin homolog (Drosophila)-like							192.0	188.0	190.0					8																	52370181		1967	4155	6122	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52370181C>T		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.859G>A	8.37:g.52370181C>T	ENSP00000348645:p.Asp287Asn					PXDNL_ENST00000543296.1_Missense_Mutation_p.D287N	p.D287N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			9	959	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	287			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.859G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767060	0.49574	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.39997	1.05;1.05	3.28	2.39	0.29439	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42404	0.1201	L	0.28054	0.825	0.31480	N	0.667251	D	0.60575	0.988	P	0.61722	0.893	T	0.42396	-0.9454	9	0.38643	T	0.18	.	6.7307	0.23381	0.0:0.8586:0.0:0.1414	.	287	A1KZ92	PXDNL_HUMAN	N	287	ENSP00000348645:D287N;ENSP00000444865:D287N	ENSP00000348645:D287N	D	-	1	0	PXDNL	52532734	0.991000	0.36638	0.929000	0.37066	0.420000	0.31355	2.930000	0.48924	0.492000	0.27815	-0.266000	0.10368	GAT		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		23	71	0	0	0	1	0	23	71				
CDCA5	113130	broad.mit.edu	37	11	64851407	64851407	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:64851407G>C	ENST00000275517.3	-	1	216	c.44C>G	c.(43-45)tCc>tGc	p.S15C	ZFPL1_ENST00000294258.3_5'Flank|ZFPL1_ENST00000526791.1_5'Flank|ZFPL1_ENST00000525509.1_5'Flank|CDCA5_ENST00000404147.3_Missense_Mutation_p.S15C	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	15					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCGCTCACCGGAGCGCTGAGC	0.726																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(43-45)tCc>tGc		cell division cycle associated 5							19.0	22.0	21.0					11																	64851407		2180	4268	6448	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64851407G>C	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.44C>G	11.37:g.64851407G>C	ENSP00000275517:p.Ser15Cys					CDCA5_ENST00000404147.3_Missense_Mutation_p.S15C	p.S15C	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			1	216	-			15					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.44C>G	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570802	0.65765	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.49720	0.83;0.77	5.49	5.49	0.81192	.	0.896444	0.09487	N	0.795453	T	0.64327	0.2588	L	0.56769	1.78	0.09310	N	1	D	0.71674	0.998	P	0.60789	0.879	T	0.56282	-0.8005	10	0.52906	T	0.07	.	14.9032	0.70696	0.0:0.0:1.0:0.0	.	15	Q96FF9	CDCA5_HUMAN	C	15	ENSP00000275517:S15C;ENSP00000385711:S15C	ENSP00000275517:S15C	S	-	2	0	CDCA5	64607983	0.079000	0.21365	0.027000	0.17364	0.494000	0.33585	1.720000	0.38022	2.586000	0.87340	0.555000	0.69702	TCC		0.726	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		10	33	0	0	0	1	0	10	33				
CDKN3	1033	broad.mit.edu	37	14	54868293	54868293	+	Silent	SNP	T	T	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:54868293T>A	ENST00000541304.1	+	3	184	c.144T>A	c.(142-144)ctT>ctA	p.L48L	CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000556102.2_Silent_p.L48L|CDKN3_ENST00000458126.2_Silent_p.L48L|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000543789.2_Silent_p.L48L|CDKN3_ENST00000335183.6_Silent_p.L48L			Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|stomach(1)	3						TATGTGCTCTTCCAGGTGGGT	0.328																																					Pancreas(40;634 1012 9382 49950 52462)	ENST00000541304.1																			0				breast(2)|stomach(1)	3						c.(142-144)ctT>ctA		cyclin-dependent kinase inhibitor 3							98.0	97.0	98.0					14																	54868293		2203	4300	6503	SO:0001819	synonymous_variant	1033				cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr14:54868293T>A	U02681	CCDS9716.1, CCDS45109.1	14q22	2011-08-25	2008-08-01		ENSG00000100526	ENSG00000100526		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1791	protein-coding gene	gene with protein product	"""kinase associated phosphatase"", ""cyclin-dependent kinase inhibitor"", ""CDK2-associated dual specificity phosphatase"""	123832				8242750, 7698009	Standard	NM_005192		Approved	KAP, CDI1	uc001xap.3	Q16667	OTTHUMG00000140302	ENST00000541304.1:c.144T>A	14.37:g.54868293T>A						CDKN3_ENST00000442975.2_Intron|CDKN3_ENST00000556102.2_Silent_p.L48L|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000458126.2_Silent_p.L48L|CDKN3_ENST00000335183.6_Silent_p.L48L|CDKN3_ENST00000543789.2_Silent_p.L48L	p.L48L			Q16667	CDKN3_HUMAN			3	184	+			48						Silent	SNP	ENST00000541304.1	37	c.144T>A																																																																																					0.328	CDKN3-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000411158.1			15	45	0	0	0	1	0	15	45				
GIGYF2	26058	broad.mit.edu	37	2	233710512	233710512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:233710512C>T	ENST00000409547.1	+	28	3687	c.3376C>T	c.(3376-3378)Cag>Tag	p.Q1126*	GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1126*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.Q1148*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1148*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1147*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1120*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1126					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAGCTCTTTCAGGGAGTAAA	0.393																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3442-3444)Cag>Tag		GRB10 interacting GYF protein 2							113.0	114.0	113.0					2																	233710512		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233710512C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3376C>T	2.37:g.233710512C>T	ENSP00000386537:p.Gln1126*					GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1126*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1148*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1126*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1147*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1120*	p.Q1148*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3639	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1126					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.3442C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	42	9.235455	0.99110	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.5488	19.843	0.96697	0.0:1.0:0.0:0.0	.	.	.	.	X	1148;1126;1148;1126;1120;1147	.	ENSP00000362664:Q1126X	Q	+	1	0	GIGYF2	233418756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.679000	0.91253	0.655000	0.94253	CAG		0.393	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		20	40	0	0	0	1	0	20	40				
TAS2R31	259290	broad.mit.edu	37	12	11183603	11183603	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:11183603G>A	ENST00000390675.2	-	1	403	c.332C>T	c.(331-333)gCc>gTc	p.A111V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	111					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						GGAGAAATTGGCAATCTTGAG	0.403																																						ENST00000390675.2																			0				kidney(1)|lung(6)	7						c.(331-333)gCc>gTc		taste receptor, type 2, member 31							94.0	113.0	107.0					12																	11183603		2076	4267	6343	SO:0001583	missense	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183603G>A	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.332C>T	12.37:g.11183603G>A	ENSP00000375093:p.Ala111Val					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.A111V	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN			1	403	-			111					P59547|Q17R84|Q645X5	Missense_Mutation	SNP	ENST00000390675.2	37	c.332C>T	CCDS53747.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.484909	0.26598	.	.	ENSG00000256436	ENST00000390675	T	0.34667	1.35	2.45	0.45	0.16624	.	.	.	.	.	T	0.42404	0.1201	M	0.74389	2.26	0.09310	N	1	B	0.31581	0.329	B	0.42851	0.4	T	0.47249	-0.9132	9	0.46703	T	0.11	.	4.8022	0.13303	0.3376:0.0:0.6624:0.0	.	111	P59538	T2R31_HUMAN	V	111	ENSP00000375093:A111V	ENSP00000375093:A111V	A	-	2	0	TAS2R31	11074870	0.524000	0.26282	0.003000	0.11579	0.307000	0.27823	0.402000	0.20965	-0.025000	0.13918	0.194000	0.17425	GCC		0.403	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885		9	120	0	0	0	1	0	9	120				
CHAC1	79094	broad.mit.edu	37	15	41246009	41246009	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:41246009G>A	ENST00000446533.3	+	1	663	c.354G>A	c.(352-354)aaG>aaA	p.K118K	CHAC1_ENST00000487220.1_5'Flank|CHAC1_ENST00000444189.2_Silent_p.K118K	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	118					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCAGCGACAAGATGGTGAGCA	0.662																																						ENST00000446533.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(352-354)aaG>aaA		ChaC, cation transport regulator homolog 1 (E. coli)							17.0	20.0	19.0					15																	41246009		2198	4288	6486	SO:0001819	synonymous_variant	79094				apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	g.chr15:41246009G>A	BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.354G>A	15.37:g.41246009G>A						CHAC1_ENST00000444189.2_Silent_p.K118K	p.K118K	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	663	+		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	118					Q0VIA0	Silent	SNP	ENST00000446533.3	37	c.354G>A	CCDS10070.2																																																																																				0.662	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		4	8	0	0	0	1	0	4	8				
ZFC3H1	196441	broad.mit.edu	37	12	72008698	72008698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:72008698G>T	ENST00000378743.3	-	29	5634	c.5276C>A	c.(5275-5277)tCa>tAa	p.S1759*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1759					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTAATACTTGATTGAAGAGG	0.348																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5275-5277)tCa>tAa		zinc finger, C3H1-type containing							167.0	151.0	156.0					12																	72008698		1897	4112	6009	SO:0001587	stop_gained	196441				RNA processing	intracellular	metal ion binding	g.chr12:72008698G>T	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5276C>A	12.37:g.72008698G>T	ENSP00000368017:p.Ser1759*						p.S1759*	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			29	5634	-			1759					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	c.5276C>A	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	45	11.658191	0.99587	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.2	5.2	0.72013	.	0.288073	0.33253	N	0.005104	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4684	0.75422	0.0:0.1389:0.8611:0.0	.	.	.	.	X	1759	.	ENSP00000368017:S1759X	S	-	2	0	ZFC3H1	70294965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.391000	0.59652	2.572000	0.86782	0.557000	0.71058	TCA		0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		23	55	1	0	6.44725e-10	1	6.97e-10	23	55				
AMER2	219287	broad.mit.edu	37	13	25744032	25744032	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr13:25744032C>T	ENST00000515384.1	-	1	2393	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	AMER2_ENST00000357816.2_Missense_Mutation_p.E457K|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.E457K			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	576					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GACGTCTCCTCGTTGTCCTTC	0.607																																						ENST00000357816.2																			0											c.(1369-1371)Gag>Aag		APC membrane recruitment protein 2							120.0	107.0	111.0					13																	25744032		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744032C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1726G>A	13.37:g.25744032C>T	ENSP00000426528:p.Glu576Lys					AMER2_ENST00000381853.3_Missense_Mutation_p.E457K|AMER2_ENST00000515384.1_Missense_Mutation_p.E576K	p.E457K							3	1844	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1369G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147041	0.77888	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.19105	2.17;2.17;2.17	5.57	4.72	0.59763	.	1.006310	0.08019	U	0.991650	T	0.40119	0.1104	L	0.54323	1.7	0.42662	D	0.993484	D;D	0.63046	0.992;0.991	P;P	0.56042	0.79;0.606	T	0.05099	-1.0906	10	0.62326	D	0.03	-28.2352	15.5526	0.76164	0.0:0.8616:0.1383:0.0	.	576;457	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	K	457;457;576	ENSP00000350469:E457K;ENSP00000371277:E457K;ENSP00000426528:E576K	ENSP00000350469:E457K	E	-	1	0	FAM123A	24642032	0.992000	0.36948	0.969000	0.41365	0.826000	0.46750	1.821000	0.39041	1.333000	0.45449	-0.305000	0.09177	GAG		0.607	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		23	53	0	0	0	1	0	23	53				
NPBWR2	2832	broad.mit.edu	37	20	62737341	62737341	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr20:62737341C>T	ENST00000369768.1	-	1	1183	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	282					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCAGGGCCACGACAGAGGCC	0.642																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(844-846)Gtg>Atg		neuropeptides B/W receptor 2							126.0	89.0	101.0					20																	62737341		2201	4297	6498	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737341C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.844G>A	20.37:g.62737341C>T	ENSP00000358783:p.Val282Met						p.V282M	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	1183	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		282					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.844G>A	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864524	0.32977	.	.	ENSG00000125522	ENST00000369768	T	0.39406	1.08	3.73	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000005	T	0.59473	0.2196	M	0.65677	2.01	0.39646	D	0.97039	D	0.89917	1.0	D	0.74023	0.982	T	0.62854	-0.6766	10	0.87932	D	0	.	13.128	0.59366	0.0:0.6937:0.3063:0.0	.	282	P48146	NPBW2_HUMAN	M	282	ENSP00000358783:V282M	ENSP00000358783:V282M	V	-	1	0	NPBWR2	62207785	0.911000	0.30947	0.002000	0.10522	0.006000	0.05464	1.875000	0.39578	0.057000	0.16193	0.491000	0.48974	GTG		0.642	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		13	26	0	0	0	1	0	13	26				
BSN	8927	broad.mit.edu	37	3	49690575	49690575	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:49690575G>A	ENST00000296452.4	+	5	3700	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1196					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGCAAAGCTGAGCTGCTCCA	0.677																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(3586-3588)Gag>Aag		bassoon presynaptic cytomatrix protein							20.0	21.0	21.0					3																	49690575		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690575G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3586G>A	3.37:g.49690575G>A	ENSP00000296452:p.Glu1196Lys						p.E1196K	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3700	+			1196					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3586G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486738	0.44249	.	.	ENSG00000164061	ENST00000296452	T	0.19105	2.17	5.24	4.37	0.52481	.	0.111232	0.64402	D	0.000012	T	0.16214	0.0390	L	0.46157	1.445	0.49915	D	0.999831	P	0.38535	0.635	B	0.27608	0.081	T	0.03910	-1.0993	10	0.27785	T	0.31	.	13.5386	0.61659	0.0752:0.0:0.9248:0.0	.	1196	Q9UPA5	BSN_HUMAN	K	1196	ENSP00000296452:E1196K	ENSP00000296452:E1196K	E	+	1	0	BSN	49665579	1.000000	0.71417	0.995000	0.50966	0.757000	0.42996	4.645000	0.61404	1.218000	0.43458	0.561000	0.74099	GAG		0.677	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		10	11	0	0	0	1	0	10	11				
PDE4A	5141	broad.mit.edu	37	19	10570275	10570275	+	Missense_Mutation	SNP	G	G	A	rs201529049		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:10570275G>A	ENST00000352831.6	+	10	1315	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	PDE4A_ENST00000380702.2_Missense_Mutation_p.R380Q|PDE4A_ENST00000344979.3_Missense_Mutation_p.R163Q|PDE4A_ENST00000293683.5_Missense_Mutation_p.R376Q|PDE4A_ENST00000592685.1_Missense_Mutation_p.R380Q|PDE4A_ENST00000440014.2_Missense_Mutation_p.R341Q	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	402	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTCAGGAGCGGGACCTGCTG	0.637																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1138-1140)cGg>cAg		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	52.0	47.0	49.0		1205,1127,1022,488	4.3	1.0	19		49	0,8600		0,0,4300	yes	missense,missense,missense,missense	PDE4A	NM_001111307.1,NM_001111308.1,NM_001111309.1,NM_006202.2	43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	402/887,376/861,341/826,163/648	10570275	1,13005	2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10570275G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1205G>A	19.37:g.10570275G>A	ENSP00000270474:p.Arg402Gln					PDE4A_ENST00000440014.2_Missense_Mutation_p.R341Q|PDE4A_ENST00000352831.6_Missense_Mutation_p.R402Q|PDE4A_ENST00000592685.1_Missense_Mutation_p.R380Q|PDE4A_ENST00000293683.5_Missense_Mutation_p.R376Q|PDE4A_ENST00000344979.3_Missense_Mutation_p.R163Q	p.R380Q			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		11	1139	+			402			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.1139G>A	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246455	0.95305	2.27E-4	0.0	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.28	4.28	0.50868	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.83575	0.5284	M	0.88241	2.94	0.80722	D	1	P;D;D;D;D	0.89917	0.927;1.0;1.0;1.0;0.996	B;D;D;D;P	0.91635	0.232;0.999;0.987;0.995;0.741	D	0.86976	0.2101	10	0.72032	D	0.01	.	14.2603	0.66080	0.0:0.0:1.0:0.0	.	68;163;341;376;402	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	Q	380;402;376;341;163;68	ENSP00000370078:R380Q;ENSP00000270474:R402Q;ENSP00000293683:R376Q;ENSP00000394754:R341Q;ENSP00000341007:R163Q	ENSP00000293683:R376Q	R	+	2	0	PDE4A	10431275	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.532000	0.98057	2.224000	0.72417	0.561000	0.74099	CGG		0.637	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			10	28	0	0	0	1	0	10	28				
ORC1	4998	broad.mit.edu	37	1	52841200	52841200	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:52841200G>A	ENST00000371568.3	-	15	2423	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	ORC1_ENST00000371566.1_Silent_p.F735F	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	735	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTGCTGGGAGAACTCACAGA	0.522																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2203-2205)ttC>ttT		origin recognition complex, subunit 1							140.0	125.0	130.0					1																	52841200		2203	4300	6503	SO:0001819	synonymous_variant	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52841200G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2205C>T	1.37:g.52841200G>A						ORC1_ENST00000371566.1_Silent_p.F735F	p.F735F	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			15	2423	-			735			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Silent	SNP	ENST00000371568.3	37	c.2205C>T	CCDS566.1																																																																																				0.522	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		15	51	0	0	0	1	0	15	51				
PIGO	84720	broad.mit.edu	37	9	35092632	35092632	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:35092632C>G	ENST00000378617.3	-	7	1646	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	PIGO_ENST00000361778.2_Missense_Mutation_p.E418Q|PIGO_ENST00000298004.5_Missense_Mutation_p.E418Q|PIGO_ENST00000341666.3_Missense_Mutation_p.E418Q|PIGO_ENST00000492770.1_5'Flank	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	418					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTGTCGCCTCAGCCCCCTTG	0.587																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1252-1254)Gag>Cag		phosphatidylinositol glycan anchor biosynthesis, class O							52.0	58.0	56.0					9																	35092632		2188	4281	6469	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092632C>G	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1252G>C	9.37:g.35092632C>G	ENSP00000367880:p.Glu418Gln					PIGO_ENST00000361778.2_Missense_Mutation_p.E418Q|PIGO_ENST00000341666.3_Missense_Mutation_p.E418Q|PIGO_ENST00000298004.5_Missense_Mutation_p.E418Q	p.E418Q	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1646	-			418					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1252G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	6.595	0.478110	0.12521	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.56444	0.5;0.46;0.46;0.5	5.38	5.38	0.77491	.	0.448691	0.24078	N	0.041743	T	0.44912	0.1316	L	0.54323	1.7	0.22521	N	0.99902	B;B	0.34214	0.145;0.442	B;B	0.28553	0.062;0.091	T	0.37934	-0.9684	10	0.23302	T	0.38	-25.6264	13.6251	0.62159	0.0:0.9238:0.0:0.0762	.	418;418	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	Q	418	ENSP00000298004:E418Q;ENSP00000367880:E418Q;ENSP00000339382:E418Q;ENSP00000354678:E418Q	ENSP00000298004:E418Q	E	-	1	0	PIGO	35082632	0.935000	0.31712	0.667000	0.29798	0.181000	0.23173	2.821000	0.48065	2.813000	0.96785	0.655000	0.94253	GAG		0.587	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		21	63	0	0	0	1	0	21	63				
ABHD8	79575	broad.mit.edu	37	19	17405231	17405231	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:17405231G>A	ENST00000247706.3	-	4	1254	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	339							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATCATGGCCCGGAGTACGAAG	0.627																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1015-1017)Cgg>Tgg		abhydrolase domain containing 8							148.0	117.0	128.0					19																	17405231		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405231G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1015C>T	19.37:g.17405231G>A	ENSP00000247706:p.Arg339Trp					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.R339W	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1254	-			339					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.1015C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403487	0.62288	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.68624	-0.34	5.28	1.68	0.24146	.	0.062472	0.64402	D	0.000008	T	0.80507	0.4636	M	0.83012	2.62	0.52501	D	0.99995	D	0.89917	1.0	D	0.78314	0.991	T	0.82153	-0.0598	10	0.87932	D	0	-32.5559	11.7795	0.52006	0.0:0.0:0.4035:0.5965	.	339	Q96I13	ABHD8_HUMAN	W	339;285	ENSP00000247706:R339W	ENSP00000247706:R339W	R	-	1	2	ABHD8	17266231	1.000000	0.71417	0.967000	0.41034	0.261000	0.26267	2.374000	0.44274	0.574000	0.29417	0.655000	0.94253	CGG		0.627	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		35	90	0	0	0	1	0	35	90				
COL4A4	1286	broad.mit.edu	37	2	227963502	227963502	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:227963502T>C	ENST00000396625.3	-	19	1319	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	COL4A4_ENST00000329662.7_Missense_Mutation_p.D371G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	371	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|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(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAACCCTGGGTCCCCTGGTGG	0.493																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1111-1113)gAc>gGc		collagen, type IV, alpha 4							35.0	36.0	36.0					2																	227963502		1853	4091	5944	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227963502T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1112A>G	2.37:g.227963502T>C	ENSP00000379866:p.Asp371Gly					COL4A4_ENST00000329662.7_Missense_Mutation_p.D371G	p.D371G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	19	1319	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	371			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1112A>G	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183329	0.57800	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94280	-3.39;-3.39	5.71	5.71	0.89125	.	.	.	.	.	D	0.93976	0.8071	L	0.37561	1.115	0.46241	D	0.998943	D	0.89917	1.0	D	0.91635	0.999	D	0.92438	0.5959	9	0.27785	T	0.31	.	12.3591	0.55192	0.0:0.0:0.0:1.0	.	371	P53420	CO4A4_HUMAN	G	371	ENSP00000379866:D371G;ENSP00000328553:D371G	ENSP00000328553:D371G	D	-	2	0	COL4A4	227671746	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	4.140000	0.58031	2.181000	0.69327	0.482000	0.46254	GAC		0.493	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		6	28	0	0	0	1	0	6	28				
CCNL2	81669	broad.mit.edu	37	1	1334480	1334480	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:1334480G>A	ENST00000400809.3	-	1	212	c.207C>T	c.(205-207)ctC>ctT	p.L69L	CCNL2_ENST00000408918.4_Silent_p.L69L|RP4-758J18.2_ENST00000448629.2_5'Flank|RP4-758J18.2_ENST00000576232.1_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|MRPL20_ENST00000493287.1_5'Flank|CCNL2_ENST00000408952.5_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	69					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGTCGGTGTCGAGGCCGCTCG	0.677																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(205-207)ctC>ctT		cyclin L2							73.0	58.0	63.0					1																	1334480		2202	4300	6502	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1334480G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.207C>T	1.37:g.1334480G>A						CCNL2_ENST00000408918.4_Silent_p.L69L	p.L69L	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	1	212	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	69					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.207C>T	CCDS30557.1																																																																																				0.677	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		10	28	0	0	0	1	0	10	28				
QDPR	5860	broad.mit.edu	37	4	17493925	17493925	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:17493925G>C	ENST00000281243.5	-	5	654	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	QDPR_ENST00000508623.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.Q128E|QDPR_ENST00000513615.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	159					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						TGGCAGAGCTGGTGAACAGCA	0.647																																						ENST00000281243.5																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(475-477)Cag>Gag		quinoid dihydropteridine reductase	NADH(DB00157)						48.0	50.0	49.0					4																	17493925		2203	4300	6503	SO:0001583	missense	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17493925G>C	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.475C>G	4.37:g.17493925G>C	ENSP00000281243:p.Gln159Glu					QDPR_ENST00000508623.1_Intron|QDPR_ENST00000513615.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.Q128E	p.Q159E	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN			5	654	-			159					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.475C>G	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678146	0.88542	.	.	ENSG00000151552	ENST00000281243;ENST00000428702	D;D	0.94687	-2.23;-3.49	5.26	5.26	0.73747	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.91300	3.195	0.80722	D	1	P;P	0.51653	0.936;0.947	P;P	0.54544	0.755;0.647	D	0.96293	0.9215	10	0.13470	T	0.59	-16.9607	17.6482	0.88154	0.0:0.0:1.0:0.0	.	128;159	B3KW71;P09417	.;DHPR_HUMAN	E	159;128	ENSP00000281243:Q159E;ENSP00000390944:Q128E	ENSP00000281243:Q159E	Q	-	1	0	QDPR	17103023	1.000000	0.71417	0.952000	0.39060	0.952000	0.60782	8.814000	0.91968	2.448000	0.82819	0.557000	0.71058	CAG		0.647	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		7	13	0	0	0	1	0	7	13				
PNLIPRP1	5407	broad.mit.edu	37	10	118357632	118357632	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:118357632G>C	ENST00000528052.1	+	8	839	c.768G>C	c.(766-768)aaG>aaC	p.K256N	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.K256N|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.K256N			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	256					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CGGGATGCAAGAAGAATGCCC	0.517																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(766-768)aaG>aaC		pancreatic lipase-related protein 1							93.0	82.0	86.0					10																	118357632		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118357632G>C	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.768G>C	10.37:g.118357632G>C	ENSP00000433933:p.Lys256Asn					PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.K256N|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.K256N	p.K256N			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	8	839	+			256					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.768G>C	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236867	0.39498	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.91011	-2.77;-2.77;-2.77	5.19	5.19	0.71726	Lipase, N-terminal (1);	0.468291	0.22811	N	0.055349	D	0.84902	0.5575	L	0.28014	0.82	0.80722	D	1	B	0.06786	0.001	B	0.17722	0.019	T	0.80125	-0.1513	10	0.39692	T	0.17	-10.7648	14.1905	0.65635	0.0:0.1508:0.8491:0.0	.	256	P54315	LIPR1_HUMAN	N	256	ENSP00000351695:K256N;ENSP00000433933:K256N;ENSP00000434159:K256N	ENSP00000351695:K256N	K	+	3	2	PNLIPRP1	118347622	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	2.035000	0.41155	2.568000	0.86640	0.650000	0.86243	AAG		0.517	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		7	23	0	0	0	1	0	7	23				
DYNC1H1	1778	broad.mit.edu	37	14	102492935	102492935	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:102492935G>C	ENST00000360184.4	+	44	8826	c.8662G>C	c.(8662-8664)Gag>Cag	p.E2888Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2888					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGACCAAGAAGAGTTAAGAGA	0.368																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(8662-8664)Gag>Cag		dynein, cytoplasmic 1, heavy chain 1							111.0	111.0	111.0					14																	102492935		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102492935G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8662G>C	14.37:g.102492935G>C	ENSP00000348965:p.Glu2888Gln						p.E2888Q	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			44	8826	+			2888					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.8662G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538138	0.45176	.	.	ENSG00000197102	ENST00000360184	T	0.32023	1.47	5.91	5.91	0.95273	.	0.212508	0.48767	D	0.000169	T	0.31199	0.0789	L	0.48935	1.535	0.80722	D	1	B	0.17268	0.021	B	0.17098	0.017	T	0.09885	-1.0654	10	0.15952	T	0.53	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	2888	Q14204	DYHC1_HUMAN	Q	2888	ENSP00000348965:E2888Q	ENSP00000348965:E2888Q	E	+	1	0	DYNC1H1	101562688	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	9.531000	0.98054	2.793000	0.96121	0.655000	0.94253	GAG		0.368	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		19	40	0	0	0	1	0	19	40				
ZFP41	286128	broad.mit.edu	37	8	144332588	144332588	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:144332588G>A	ENST00000330701.4	+	2	944	c.575G>A	c.(574-576)cGc>cAc	p.R192H	ZFP41_ENST00000522452.1_Missense_Mutation_p.R192H|ZFP41_ENST00000520584.1_Missense_Mutation_p.R192H	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	192					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CATCAGAAACGCCACCCTCGG	0.647																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(574-576)cGc>cAc		ZFP41 zinc finger protein							55.0	65.0	61.0					8																	144332588		2199	4298	6497	SO:0001583	missense	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332588G>A		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.575G>A	8.37:g.144332588G>A	ENSP00000327427:p.Arg192His					ZFP41_ENST00000522452.1_Missense_Mutation_p.R192H|ZFP41_ENST00000520584.1_Missense_Mutation_p.R192H	p.R192H	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	944	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		192					D3DWJ5	Missense_Mutation	SNP	ENST00000330701.4	37	c.575G>A	CCDS6397.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466804	0.26335	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.07567	3.18;3.18;3.18	3.23	-0.102	0.13613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	L	0.45352	1.415	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.35450	-0.9788	9	0.87932	D	0	-11.0798	4.3583	0.11190	0.1237:0.0:0.3526:0.5237	.	192	Q8N8Y5	ZFP41_HUMAN	H	192	ENSP00000430465:R192H;ENSP00000327427:R192H;ENSP00000428966:R192H	ENSP00000327427:R192H	R	+	2	0	ZFP41	144403963	.	.	0.002000	0.10522	0.698000	0.40448	.	.	0.180000	0.19960	0.467000	0.42956	CGC		0.647	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		40	114	0	0	0	1	0	40	114				
KIAA1551	55196	broad.mit.edu	37	12	32134255	32134255	+	Silent	SNP	A	A	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:32134255A>G	ENST00000312561.4	+	4	780	c.366A>G	c.(364-366)tcA>tcG	p.S122S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	122																	GGTTGAACTCACCAATGAGGA	0.408																																						ENST00000312561.4																			0											c.(364-366)tcA>tcG		KIAA1551							78.0	72.0	74.0					12																	32134255		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32134255A>G	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.366A>G	12.37:g.32134255A>G						KIAA1551_ENST00000535596.1_Intron	p.S122S	NM_018169.3	NP_060639.3					4	780	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.366A>G	CCDS8725.2																																																																																				0.408	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		17	47	0	0	0	1	0	17	47				
CAPN6	827	broad.mit.edu	37	X	110492172	110492172	+	Silent	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chrX:110492172C>T	ENST00000324068.1	-	9	1439	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E	CAPN6_ENST00000541758.1_Silent_p.E169E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	424	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTTGAAGAGCTCAAAGCCAA	0.463																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1270-1272)gaG>gaA		calpain 6							176.0	159.0	165.0					X																	110492172		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110492172C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1272G>A	X.37:g.110492172C>T						CAPN6_ENST00000541758.1_Silent_p.E169E	p.E424E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			9	1439	-			424			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.1272G>A	CCDS14555.1																																																																																				0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			29	41	0	0	0	1	0	29	41				
LRRC39	127495	broad.mit.edu	37	1	100634004	100634004	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:100634004C>A	ENST00000370137.1	-	3	267	c.69G>T	c.(67-69)aaG>aaT	p.K23N	LRRC39_ENST00000342895.3_Missense_Mutation_p.K23N|LRRC39_ENST00000370138.1_Missense_Mutation_p.K23N	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	23										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CATTGAGTTTCTTTATTCTTT	0.338																																						ENST00000370138.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(67-69)aaG>aaT		leucine rich repeat containing 39							187.0	170.0	176.0					1																	100634004		2203	4300	6503	SO:0001583	missense	127495							g.chr1:100634004C>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.69G>T	1.37:g.100634004C>A	ENSP00000359156:p.Lys23Asn					LRRC39_ENST00000370137.1_Missense_Mutation_p.K23N|LRRC39_ENST00000342895.3_Missense_Mutation_p.K23N	p.K23N	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	3	267	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	23					B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	ENST00000370137.1	37	c.69G>T	CCDS766.1	.	.	.	.	.	.	.	.	.	.	c	13.80	2.345367	0.41498	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.00365	7.8;7.8;7.8	5.74	3.89	0.44902	.	0.521356	0.17398	N	0.175662	T	0.00109	0.0003	L	0.27053	0.805	0.39102	D	0.961303	B;B	0.34329	0.449;0.181	B;B	0.35413	0.202;0.024	T	0.68648	-0.5353	10	0.23891	T	0.37	.	10.908	0.47092	0.0:0.8529:0.0:0.1471	.	23;23	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	N	23	ENSP00000359156:K23N;ENSP00000359157:K23N;ENSP00000344470:K23N	ENSP00000344470:K23N	K	-	3	2	LRRC39	100406592	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	0.868000	0.27982	0.799000	0.34018	-0.213000	0.12676	AAG		0.338	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		10	32	1	0	0.000673444	1	0.000697869	10	32				
CTSS	1520	broad.mit.edu	37	1	150722538	150722538	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:150722538C>A	ENST00000368985.3	-	6	997	c.737G>T	c.(736-738)gGc>gTc	p.G246V	CTSS_ENST00000448301.2_Missense_Mutation_p.G196V|CTSS_ENST00000480760.1_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	246					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGACACTGGGCCTTTATTGGC	0.378																																						ENST00000368985.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(736-738)gGc>gTc		cathepsin S							110.0	92.0	98.0					1																	150722538		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150722538C>A	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.737G>T	1.37:g.150722538C>A	ENSP00000357981:p.Gly246Val					CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.G196V	p.G246V	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		6	997	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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)		246					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.737G>T	CCDS968.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636483	0.67130	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.98585	-5.01;1.38	5.71	5.71	0.89125	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98225	1.0480	10	0.87932	D	0	.	18.4299	0.90622	0.0:1.0:0.0:0.0	.	196;246	B4DWC9;P25774	.;CATS_HUMAN	V	196;246	ENSP00000408414:G196V;ENSP00000357981:G246V	ENSP00000357981:G246V	G	-	2	0	CTSS	148989162	1.000000	0.71417	0.987000	0.45799	0.102000	0.19082	7.660000	0.83776	2.701000	0.92244	0.591000	0.81541	GGC		0.378	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		25	34	1	0	4.47668e-21	1	5.02998e-21	25	34				
SPATA16	83893	broad.mit.edu	37	3	172631518	172631518	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:172631518G>T	ENST00000351008.3	-	10	1703	c.1520C>A	c.(1519-1521)gCa>gAa	p.A507E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	507					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CATAGCATCTGCCATTAGTGA	0.348																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1519-1521)gCa>gAa		spermatogenesis associated 16							93.0	86.0	88.0					3																	172631518		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172631518G>T	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1520C>A	3.37:g.172631518G>T	ENSP00000341765:p.Ala507Glu						p.A507E	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		10	1703	-	Ovarian(172;0.00319)|Breast(254;0.197)		507					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1520C>A	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023169	0.75275	.	.	ENSG00000144962	ENST00000351008	T	0.24723	1.84	5.47	5.47	0.80525	.	0.088693	0.48767	D	0.000165	T	0.30665	0.0772	L	0.29908	0.895	0.34857	D	0.742255	D	0.59357	0.985	P	0.51657	0.676	T	0.23154	-1.0196	10	0.36615	T	0.2	-15.2322	17.5319	0.87817	0.0:0.0:1.0:0.0	.	507	Q9BXB7	SPT16_HUMAN	E	507	ENSP00000341765:A507E	ENSP00000341765:A507E	A	-	2	0	SPATA16	174114212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.698000	0.68302	2.571000	0.86741	0.650000	0.86243	GCA		0.348	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		5	14	1	0	0.184627	1	0.186492	5	14				
TDRD5	163589	broad.mit.edu	37	1	179620113	179620113	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:179620113G>C	ENST00000367614.1	+	12	2271	c.1912G>C	c.(1912-1914)Gac>Cac	p.D638H	TDRD5_ENST00000444136.1_Missense_Mutation_p.D638H|TDRD5_ENST00000294848.8_Missense_Mutation_p.D638H	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	638					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTTTTGTGTGACACATCCTC	0.413																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1912-1914)Gac>Cac		tudor domain containing 5							192.0	179.0	183.0					1																	179620113		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179620113G>C	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1912G>C	1.37:g.179620113G>C	ENSP00000356586:p.Asp638His					TDRD5_ENST00000294848.8_Missense_Mutation_p.D638H|TDRD5_ENST00000367614.1_Missense_Mutation_p.D638H	p.D638H	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			12	2162	+			638					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1912G>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359952	0.82353	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.50813	1.82;1.82;1.91;0.73	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69446	-0.5143	10	0.87932	D	0	-9.8175	17.0178	0.86424	0.0:0.0:1.0:0.0	.	638;638	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	H	638;638;638;94	ENSP00000356586:D638H;ENSP00000294848:D638H;ENSP00000406052:D638H;ENSP00000410744:D94H	ENSP00000294848:D638H	D	+	1	0	TDRD5	177886736	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.965000	0.70387	2.793000	0.96121	0.655000	0.94253	GAC		0.413	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		27	113	0	0	0	1	0	27	113				
NCOR1	9611	broad.mit.edu	37	17	15983977	15983977	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:15983977G>A	ENST00000268712.3	-	24	3499	c.3242C>T	c.(3241-3243)cCg>cTg	p.P1081L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L|NCOR1_ENST00000395857.3_5'Flank	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1081	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P1081L(1)|p.P1081Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCCACTGACGGCTTGGGTGT	0.403																																						ENST00000268712.3																			2	Substitution - Missense(2)	p.P1081L(1)|p.P1081Q(1)	lung(2)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3241-3243)cCg>cTg		nuclear receptor corepressor 1							144.0	131.0	135.0					17																	15983977		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15983977G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3242C>T	17.37:g.15983977G>A	ENSP00000268712:p.Pro1081Leu					NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L	p.P1081L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	24	3499	-			1081			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.3242C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991598	0.93106	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.82526	-1.62;-1.62	6.07	6.07	0.98685	.	0.090329	0.85682	D	0.000000	D	0.86871	0.6037	L	0.50333	1.59	0.80722	D	1	D;D	0.67145	0.992;0.996	P;P	0.54460	0.57;0.753	D	0.87264	0.2281	10	0.87932	D	0	-7.9813	19.6475	0.95784	0.0:0.0:1.0:0.0	.	1081;1097	O75376;O75376-2	NCOR1_HUMAN;.	L	1081;1097;988	ENSP00000268712:P1081L;ENSP00000379192:P1097L	ENSP00000268712:P1081L	P	-	2	0	NCOR1	15924702	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.180000	0.65048	2.885000	0.99019	0.655000	0.94253	CCG		0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		15	50	0	0	0	1	0	15	50				
MBOAT7	79143	broad.mit.edu	37	19	54691100	54691100	+	Silent	SNP	C	C	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:54691100C>A	ENST00000245615.1	-	4	756	c.276G>T	c.(274-276)ctG>ctT	p.L92L	MBOAT7_ENST00000391754.1_Silent_p.L92L|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron|MBOAT7_ENST00000474910.1_5'UTR	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	92					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGGCAGGCCCAGGAGGCTGA	0.652																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(274-276)ctG>ctT		membrane bound O-acyltransferase domain containing 7							52.0	51.0	51.0					19																	54691100		2194	4297	6491	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54691100C>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.276G>T	19.37:g.54691100C>A						MBOAT7_ENST00000391754.1_Silent_p.L92L|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron	p.L92L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN			4	756	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		92					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.276G>T	CCDS12883.1																																																																																				0.652	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		3	5	1	0	0.004672	1	0.00479179	3	5				
AKR7L	246181	broad.mit.edu	37	1	19596156	19596156	+	RNA	SNP	G	G	T	rs6665756	byFrequency	TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:19596156G>T	ENST00000429712.1	-	0	644				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTGCCGGGTGGTGGCGCTGT	0.562													.|||	3335	0.665935	0.3986	0.7349	5008	,	,		17408	0.8016		0.6918	False		,,,				2504	0.8119					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like		G		604,780		133,338,221	79.0	79.0	79.0			3.9	1.0	1	dbSNP_116	79	2111,1071		724,663,204	no	intergenic				857,1001,425	TT,TG,GG		33.6581,43.6416,40.5388			19596156	2715,1851	692	1591	2283			246181							g.chr1:19596156G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19596156G>T						AKR7L_ENST00000429712.1_RNA								0	507	-								Q5U614	RNA	SNP	ENST00000429712.1	37																																																																																						0.562	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		4	54	1	0	0.00909568	1	0.00923419	4	54				
GML	2765	broad.mit.edu	37	8	143921918	143921918	+	Missense_Mutation	SNP	G	G	A	rs200642476		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:143921918G>A	ENST00000220940.1	+	2	155	c.65G>A	c.(64-66)cGc>cAc	p.R22H		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	22					apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCACCATGCGCGCTCAGTGT	0.577																																						ENST00000220940.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18						c.(64-66)cGc>cAc		glycosylphosphatidylinositol anchored molecule like							108.0	92.0	97.0					8																	143921918		2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143921918G>A	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.65G>A	8.37:g.143921918G>A	ENSP00000220940:p.Arg22His						p.R22H	NM_002066.2	NP_002057.1	Q99445	GML_HUMAN			2	155	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		22					A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.65G>A	CCDS6391.1	.	.	.	.	.	.	.	.	.	.	N	5.081	0.200516	0.09652	.	.	ENSG00000104499	ENST00000522728;ENST00000220940	T;T	0.21932	1.98;1.98	2.24	-4.49	0.03504	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.33841	0.428	B	0.28784	0.094	T	0.17379	-1.0371	9	0.48119	T	0.1	.	1.2031	0.01889	0.132:0.2393:0.3133:0.3154	.	22	Q99445	GML_HUMAN	H	22	ENSP00000430799:R22H;ENSP00000220940:R22H	ENSP00000220940:R22H	R	+	2	0	GML	143918920	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.054000	0.03496	-1.713000	0.01392	-0.969000	0.02612	CGC		0.577	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		34	51	0	0	0	1	0	34	51				
C9orf131	138724	broad.mit.edu	37	9	35042305	35042305	+	Silent	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:35042305C>G	ENST00000312292.5	+	1	101	c.54C>G	c.(52-54)ctC>ctG	p.L18L	C9orf131_ENST00000354479.5_Intron|C9orf131_ENST00000421362.2_Intron	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	18										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGGCTTCTCTGGGGCCAAC	0.552																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(52-54)ctC>ctG		chromosome 9 open reading frame 131							55.0	53.0	54.0					9																	35042305		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35042305C>G	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.54C>G	9.37:g.35042305C>G						C9orf131_ENST00000421362.2_Intron|C9orf131_ENST00000354479.5_Intron	p.L18L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	101	+	all_epithelial(49;0.22)		18					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.54C>G	CCDS6572.2																																																																																				0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		5	42	0	0	0	1	0	5	42				
UGT1A4	54657	broad.mit.edu	37	2	234628224	234628224	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:234628224C>G	ENST00000373409.3	+	1	801	c.758C>G	c.(757-759)tCc>tGc	p.S253C	UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	253					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	AGCTATGCATCCGTGTGGCTG	0.522																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(757-759)tCc>tGc									235.0	231.0	232.0					2																	234628224		2203	4300	6503	SO:0001583	missense	54657							g.chr2:234628224C>G	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.758C>G	2.37:g.234628224C>G	ENSP00000362508:p.Ser253Cys					UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron	p.S253C	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	801	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.758C>G	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797844	0.70567	.	.	ENSG00000244474	ENST00000373409	T	0.64803	-0.12	4.35	4.35	0.52113	.	.	.	.	.	D	0.85626	0.5740	H	0.96080	3.765	0.49051	D	0.99974	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91062	0.4886	9	0.87932	D	0	.	16.8588	0.86012	0.0:1.0:0.0:0.0	.	253;253	B8K288;P22310	.;UD14_HUMAN	C	253	ENSP00000362508:S253C	ENSP00000362508:S253C	S	+	2	0	UGT1A4	234292963	0.998000	0.40836	0.034000	0.17996	0.001000	0.01503	4.563000	0.60823	1.942000	0.56320	0.491000	0.48974	TCC		0.522	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		44	148	0	0	0	1	0	44	148				
ADSL	158	broad.mit.edu	37	22	40742709	40742709	+	Silent	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr22:40742709C>G	ENST00000216194.7	+	1	203	c.147C>G	c.(145-147)gcC>gcG	p.A49A	ADSL_ENST00000454266.2_Silent_p.A49A|ADSL_ENST00000342312.6_Silent_p.A49A	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	49					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGGCGGAGGCCGAGCAGGTAA	0.687																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(145-147)gcC>gcG		adenylosuccinate lyase							21.0	21.0	21.0					22																	40742709		2202	4300	6502	SO:0001819	synonymous_variant	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40742709C>G	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.147C>G	22.37:g.40742709C>G						ADSL_ENST00000342312.6_Silent_p.A49A|ADSL_ENST00000454266.2_Silent_p.A49A	p.A49A	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			1	203	+			49					B0QY76|O75495|Q5TI34	Silent	SNP	ENST00000216194.7	37	c.147C>G	CCDS14001.1																																																																																				0.687	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		4	8	0	0	0	1	0	4	8				
BSN	8927	broad.mit.edu	37	3	49697990	49697990	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:49697990G>A	ENST00000296452.4	+	6	8826	c.8712G>A	c.(8710-8712)gaG>gaA	p.E2904E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2904					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCAGAGGAGGCTCACCTTC	0.677																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(8710-8712)gaG>gaA		bassoon presynaptic cytomatrix protein							46.0	49.0	48.0					3																	49697990		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49697990G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8712G>A	3.37:g.49697990G>A							p.E2904E	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	8826	+			2904					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.8712G>A	CCDS2800.1																																																																																				0.677	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		22	44	0	0	0	1	0	22	44				
GUCY2D	3000	broad.mit.edu	37	17	7915473	7915473	+	Silent	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:7915473C>G	ENST00000254854.4	+	9	1911	c.1761C>G	c.(1759-1761)ctC>ctG	p.L587L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	587	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				TCCAGGAGCTCCGGCATGAGA	0.592																																						ENST00000254854.4																			0				skin(1)	1						c.(1759-1761)ctC>ctG		guanylate cyclase 2D, membrane (retina-specific)							30.0	34.0	32.0					17																	7915473		2203	4300	6503	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7915473C>G	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1761C>G	17.37:g.7915473C>G							p.L587L	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			9	1911	+		Prostate(122;0.157)	587			Protein kinase.		Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.1761C>G	CCDS11127.1																																																																																				0.592	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			10	35	0	0	0	1	0	10	35				
ZNF641	121274	broad.mit.edu	37	12	48741052	48741052	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:48741052G>C	ENST00000544117.2	-	3	1009	c.301C>G	c.(301-303)Ctt>Gtt	p.L101V	ZNF641_ENST00000547026.1_Missense_Mutation_p.L87V|ZNF641_ENST00000301042.3_Missense_Mutation_p.L101V|ZNF641_ENST00000448928.3_Missense_Mutation_p.L87V			Q96N77	ZN641_HUMAN	zinc finger protein 641	101					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CCAGCCGCAAGAAGTGCAGCT	0.537																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(301-303)Ctt>Gtt		zinc finger protein 641							69.0	64.0	66.0					12																	48741052		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48741052G>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.301C>G	12.37:g.48741052G>C	ENSP00000437832:p.Leu101Val					ZNF641_ENST00000301042.3_Missense_Mutation_p.L101V|ZNF641_ENST00000547026.1_Missense_Mutation_p.L87V|ZNF641_ENST00000448928.3_Missense_Mutation_p.L87V	p.L101V			Q96N77	ZN641_HUMAN			3	1009	-			101					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.301C>G	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697858	0.68386	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026;ENST00000548932;ENST00000550181	T;T;T;T;T;T	0.42131	2.99;2.99;2.95;2.99;2.26;0.98	5.49	5.49	0.81192	.	0.121001	0.38058	N	0.001822	T	0.55673	0.1935	M	0.64170	1.965	0.34985	D	0.754467	D;P	0.61080	0.989;0.941	P;B	0.55391	0.775;0.333	T	0.68074	-0.5505	10	0.72032	D	0.01	.	15.2349	0.73422	0.0:0.0:1.0:0.0	.	87;101	B4DNU5;Q96N77	.;ZN641_HUMAN	V	101;101;87;87;101;87	ENSP00000301042:L101V;ENSP00000437832:L101V;ENSP00000394627:L87V;ENSP00000449974:L87V;ENSP00000448810:L101V;ENSP00000447381:L87V	ENSP00000301042:L101V	L	-	1	0	ZNF641	47027319	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.869000	0.48444	2.739000	0.93911	0.655000	0.94253	CTT		0.537	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		4	30	0	0	0	1	0	4	30				
MUC16	94025	broad.mit.edu	37	19	9011002	9011002	+	Missense_Mutation	SNP	G	G	C	rs374640134		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:9011002G>C	ENST00000397910.4	-	37	39119	c.38916C>G	c.(38914-38916)ttC>ttG	p.F12972L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12974					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCGATGGGTGAAACCTGCAT	0.542																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38914-38916)ttC>ttG		mucin 16, cell surface associated							142.0	127.0	132.0					19																	9011002		1921	4114	6035	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011002G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38916C>G	19.37:g.9011002G>C	ENSP00000381008:p.Phe12972Leu						p.F12972L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			37	39119	-			12974					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38916C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	9.968	1.224687	0.22457	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.22134	1.97	1.78	1.78	0.24846	.	.	.	.	.	T	0.21103	0.0508	M	0.79123	2.44	.	.	.	P	0.35481	0.504	B	0.26614	0.071	T	0.32322	-0.9911	8	0.87932	D	0	.	7.0173	0.24895	0.0:0.0:1.0:0.0	.	12972	B5ME49	.	L	12972;125	ENSP00000381008:F12972L	ENSP00000381008:F12972L	F	-	3	2	MUC16	8872002	0.917000	0.31117	0.755000	0.31263	0.037000	0.13140	0.769000	0.26604	1.273000	0.44346	0.305000	0.20034	TTC		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	78	0	0	0	1	0	17	78				
ROS1	6098	broad.mit.edu	37	6	117681103	117681103	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:117681103G>C	ENST00000368508.3	-	23	3715	c.3517C>G	c.(3517-3519)Caa>Gaa	p.Q1173E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Q1168E	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1173					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACACAACTTGATTTTGATCC	0.363			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3517-3519)Caa>Gaa		c-ros oncogene 1 , receptor tyrosine kinase							123.0	116.0	118.0					6																	117681103		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117681103G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3517C>G	6.37:g.117681103G>C	ENSP00000357494:p.Gln1173Glu					ROS1_ENST00000368507.3_Missense_Mutation_p.Q1168E|GOPC_ENST00000467125.1_Intron	p.Q1173E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	23	3715	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1173					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3517C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	9.559	1.118072	0.20877	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90385	-2.66;-2.66	5.04	3.12	0.35913	.	0.205044	0.34676	N	0.003763	T	0.80110	0.4563	L	0.57536	1.79	0.80722	D	1	B	0.22800	0.075	B	0.19946	0.027	T	0.76583	-0.2906	10	0.26408	T	0.33	.	10.0269	0.42076	0.0:0.1481:0.6987:0.1532	.	1173	P08922	ROS1_HUMAN	E	1173;1168	ENSP00000357494:Q1173E;ENSP00000357493:Q1168E	ENSP00000357493:Q1168E	Q	-	1	0	ROS1	117787796	0.999000	0.42202	0.991000	0.47740	0.800000	0.45204	1.143000	0.31553	1.240000	0.43803	-0.175000	0.13238	CAA		0.363	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			13	54	0	0	0	1	0	13	54				
TENM4	26011	broad.mit.edu	37	11	78380277	78380277	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:78380277A>T	ENST00000278550.7	-	32	7575	c.7113T>A	c.(7111-7113)agT>agA	p.S2371R		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2371					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AACCTGTTCCACTAAAGACAG	0.473																																						ENST00000278550.7																			0											c.(7111-7113)agT>agA		teneurin transmembrane protein 4							83.0	85.0	84.0					11																	78380277		1976	4159	6135	SO:0001583	missense	26011							g.chr11:78380277A>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7113T>A	11.37:g.78380277A>T	ENSP00000278550:p.Ser2371Arg						p.S2371R	NM_001098816.2	NP_001092286.2					32	7575	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7113T>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089006	0.55968	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89875	-2.58;0.88	5.67	-1.05	0.10036	.	0.000000	0.85682	D	0.000000	D	0.92358	0.7575	M	0.74389	2.26	0.47123	D	0.999326	D	0.71674	0.998	D	0.75484	0.986	D	0.90187	0.4247	9	.	.	.	.	12.3191	0.54975	0.4793:0.0:0.5207:0.0	.	2371	Q6N022	TEN4_HUMAN	R	2371;835	ENSP00000278550:S2371R;ENSP00000431711:S835R	.	S	-	3	2	ODZ4	78057925	0.215000	0.23574	0.996000	0.52242	0.955000	0.61496	-0.179000	0.09768	-0.134000	0.11516	0.533000	0.62120	AGT		0.473	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			14	124	0	0	0	1	0	14	124				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	41	0	0	0	1	0	6	41				
WWC3	55841	broad.mit.edu	37	X	10102535	10102535	+	Missense_Mutation	SNP	C	C	T	rs371007227		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chrX:10102535C>T	ENST00000380861.4	+	19	3053	c.2662C>T	c.(2662-2664)Cgg>Tgg	p.R888W	WWC3_ENST00000454666.1_Missense_Mutation_p.R888W	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	888					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						CGTGAAGGAGCGGCCCAGCCG	0.557																																						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.(2662-2664)Cgg>Tgg		WWC family member 3		C	TRP/ARG	0,3835		0,0,1632,571	99.0	105.0	103.0		2662	1.0	0.5	X		103	1,6727		0,1,2427,1872	no	missense	WWC3	NM_015691.3	101	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	888/1093	10102535	1,10562	2203	4300	6503	SO:0001583	missense	55841							g.chrX:10102535C>T	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.2662C>T	X.37:g.10102535C>T	ENSP00000370242:p.Arg888Trp					WWC3_ENST00000454666.1_Missense_Mutation_p.R888W	p.R888W	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			19	3053	+			888					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2662C>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835222	0.32421	0.0	1.49E-4	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.56611	0.45;0.45	5.71	0.98	0.19750	.	0.044756	0.85682	N	0.000000	T	0.45716	0.1356	M	0.64567	1.98	0.46823	D	0.999213	B	0.32101	0.356	B	0.33846	0.171	T	0.20009	-1.0288	9	.	.	.	-17.9345	8.9397	0.35722	0.4152:0.4786:0.0:0.1062	.	888	Q9ULE0	WWC3_HUMAN	W	888;888;383	ENSP00000370242:R888W;ENSP00000399584:R888W	.	R	+	1	2	WWC3	10062535	0.974000	0.33945	0.507000	0.27676	0.129000	0.20672	0.314000	0.19432	-0.165000	0.10908	0.523000	0.50628	CGG		0.557	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		49	51	0	0	0	1	0	49	51				
RNF157	114804	broad.mit.edu	37	17	74154560	74154560	+	Missense_Mutation	SNP	C	C	T	rs201495655		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:74154560C>T	ENST00000269391.6	-	13	1459	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	443	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCAGCACGGAAGAGTTT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21549	0.0		0.0	False		,,,				2504	0.0				GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(1327-1329)Gtg>Atg		ring finger protein 157							108.0	96.0	100.0					17																	74154560		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74154560C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1327G>A	17.37:g.74154560C>T	ENSP00000269391:p.Val443Met					RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		13	1459	-			443			Ser-rich.		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1327G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702764	0.30232	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.27402	1.67;1.76	5.7	4.54	0.55810	.	0.121727	0.53938	D	0.000050	T	0.17238	0.0414	N	0.25485	0.75	0.80722	D	1	P;P	0.38978	0.652;0.581	B;B	0.26517	0.07;0.048	T	0.03619	-1.1019	10	0.41790	T	0.15	-6.5956	11.1046	0.48194	0.0:0.8707:0.0:0.1293	.	443;443	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	443	ENSP00000269391:V443M;ENSP00000321837:V443M	ENSP00000269391:V443M	V	-	1	0	RNF157	71666155	0.948000	0.32251	0.842000	0.33263	0.335000	0.28730	1.991000	0.40727	2.670000	0.90874	0.655000	0.94253	GTG		0.502	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		23	61	0	0	0	1	0	23	61				
KIAA1109	84162	broad.mit.edu	37	4	123109097	123109097	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:123109097C>G	ENST00000264501.4	+	9	1048	c.675C>G	c.(673-675)atC>atG	p.I225M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.I225M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I225M			Q2LD37	K1109_HUMAN	KIAA1109	225					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTCTGTGCATCAACTTTGATG	0.358																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(673-675)atC>atG		KIAA1109							124.0	111.0	115.0					4																	123109097		1855	4084	5939	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123109097C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.675C>G	4.37:g.123109097C>G	ENSP00000264501:p.Ile225Met					KIAA1109_ENST00000455637.1_Missense_Mutation_p.I225M|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I225M	p.I225M			Q2LD37	K1109_HUMAN			9	1048	+			225					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.675C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.46|10.46	1.357373|1.357373	0.24598|0.24598	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	D;D;D|.	0.95949|.	-3.86;-3.86;-3.86|.	5.59|5.59	1.4|1.4	0.22301|0.22301	.|.	0.300226|.	0.20429|.	U|.	0.092517|.	T|T	0.32912|0.32912	0.0845|0.0845	N|N	0.16368|0.16368	0.405|0.405	0.38235|0.38235	D|D	0.941155|0.941155	B|.	0.17465|.	0.022|.	B|.	0.14023|.	0.01|.	T|T	0.09400|0.09400	-1.0676|-1.0676	10|5	0.45353|.	T|.	0.12|.	.|.	4.1882|4.1882	0.10409|0.10409	0.0:0.3092:0.1844:0.5065|0.0:0.3092:0.1844:0.5065	.|.	225|.	Q2LD37|.	K1109_HUMAN|.	M|E	225|58	ENSP00000264501:I225M;ENSP00000373390:I225M;ENSP00000389925:I225M|.	ENSP00000264501:I225M|.	I|Q	+|+	3|1	3|0	KIAA1109|KIAA1109	123328547|123328547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.768000|0.768000	0.43524|0.43524	1.386000|1.386000	0.34419|0.34419	0.323000|0.323000	0.23307|0.23307	-0.254000|-0.254000	0.11334|0.11334	ATC|CAA		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		12	33	0	0	0	1	0	12	33				
SLC9C2	284525	broad.mit.edu	37	1	173526596	173526596	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:173526596T>A	ENST00000367714.3	-	10	1520	c.1098A>T	c.(1096-1098)gaA>gaT	p.E366D	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.E264D	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	366					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GCCAATTATATTCATAATTTG	0.348																																						ENST00000367714.3																			0											c.(1096-1098)gaA>gaT		solute carrier family 9, member C2 (putative)							124.0	134.0	130.0					1																	173526596		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526596T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1098A>T	1.37:g.173526596T>A	ENSP00000356687:p.Glu366Asp					SLC9C2_ENST00000536496.1_Missense_Mutation_p.E264D|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	p.E366D	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			10	1520	-			366					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1098A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.517777	0.27123	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.15256	2.44;2.44	5.57	0.442	0.16582	Cation/H+ exchanger (1);	0.227351	0.30630	N	0.009207	T	0.05364	0.0142	L	0.50333	1.59	0.22050	N	0.999399	P	0.38617	0.64	B	0.41510	0.359	T	0.34004	-0.9846	10	0.29301	T	0.29	-18.5445	4.3622	0.11208	0.0:0.2866:0.1693:0.5442	.	366	Q5TAH2	S9A11_HUMAN	D	366;264	ENSP00000356687:E366D;ENSP00000445437:E264D	ENSP00000356687:E366D	E	-	3	2	SLC9A11	171793219	0.998000	0.40836	0.513000	0.27749	0.170000	0.22686	0.389000	0.20751	-0.155000	0.11098	0.482000	0.46254	GAA		0.348	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		13	151	0	0	0	1	0	13	151				
TNFSF11	8600	broad.mit.edu	37	13	43180865	43180865	+	Silent	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr13:43180865G>C	ENST00000239849.6	+	5	916	c.765G>C	c.(763-765)ctG>ctC	p.L255L	TNFSF11_ENST00000398795.2_Silent_p.L182L|TNFSF11_ENST00000405262.2_Silent_p.L182L|TNFSF11_ENST00000544862.1_Silent_p.L182L|TNFSF11_ENST00000358545.2_Silent_p.L182L			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	255					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	CTCATACCCTGATGAAAGGAG	0.398																																						ENST00000398795.2																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(544-546)ctG>ctC		tumor necrosis factor (ligand) superfamily, member 11							122.0	113.0	116.0					13																	43180865		2203	4300	6503	SO:0001819	synonymous_variant	8600				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180865G>C	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.765G>C	13.37:g.43180865G>C						TNFSF11_ENST00000405262.2_Silent_p.L182L|TNFSF11_ENST00000358545.2_Silent_p.L182L|TNFSF11_ENST00000544862.1_Silent_p.L182L|TNFSF11_ENST00000239849.6_Silent_p.L255L	p.L182L	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	5	914	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	255					O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	c.546G>C	CCDS9384.1																																																																																				0.398	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			31	55	0	0	0	1	0	31	55				
RNF213	57674	broad.mit.edu	37	17	78319633	78319633	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:78319633G>C	ENST00000582970.1	+	29	7641	c.7498G>C	c.(7498-7500)Gaa>Caa	p.E2500Q	RNF213_ENST00000508628.2_Missense_Mutation_p.E2549Q|RNF213_ENST00000336301.6_Missense_Mutation_p.E573Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2500					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGTATCAAAGAAGTCCTGTG	0.483																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(7498-7500)Gaa>Caa		ring finger protein 213							110.0	100.0	103.0					17																	78319633		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319633G>C	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7498G>C	17.37:g.78319633G>C	ENSP00000464087:p.Glu2500Gln					RNF213_ENST00000336301.6_Missense_Mutation_p.E573Q|RNF213_ENST00000508628.2_Missense_Mutation_p.E2549Q	p.E2500Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7641	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7498G>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235701	0.39498	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.41065	1.01	5.42	5.42	0.78866	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	M	0.76328	2.33	0.46927	D	0.999253	D	0.89917	1.0	D	0.87578	0.998	T	0.67673	-0.5610	10	0.59425	D	0.04	.	19.4123	0.94679	0.0:0.0:1.0:0.0	.	573	Q63HN8	RN213_HUMAN	Q	2500;2549;573	ENSP00000338218:E573Q	ENSP00000338218:E573Q	E	+	1	0	RNF213	75934228	1.000000	0.71417	0.880000	0.34516	0.463000	0.32649	9.500000	0.97977	2.819000	0.97034	0.655000	0.94253	GAA		0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		24	71	0	0	0	1	0	24	71				
SPTLC1	10558	broad.mit.edu	37	9	94830314	94830314	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:94830314G>C	ENST00000262554.2	-	6	499	c.494C>G	c.(493-495)tCa>tGa	p.S165*	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	165					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	AAATCCATATGAGTATATAAT	0.348																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(493-495)tCa>tGa		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						120.0	124.0	122.0					9																	94830314		2203	4300	6503	SO:0001587	stop_gained	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94830314G>C	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.494C>G	9.37:g.94830314G>C	ENSP00000262554:p.Ser165*					SPTLC1_ENST00000482632.1_5'UTR	p.S165*	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			6	499	-			165					A8K681|Q5VWB4|Q96IX6	Nonsense_Mutation	SNP	ENST00000262554.2	37	c.494C>G	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362639	0.95877	.	.	ENSG00000090054	ENST00000262554	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.9387	18.7361	0.91755	0.0:0.0:1.0:0.0	.	.	.	.	X	165	.	ENSP00000262554:S165X	S	-	2	0	SPTLC1	93870135	1.000000	0.71417	0.940000	0.37924	0.990000	0.78478	9.586000	0.98226	2.506000	0.84524	0.467000	0.42956	TCA		0.348	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		10	60	0	0	0	1	0	10	60				
BRD8	10902	broad.mit.edu	37	5	137497527	137497527	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr5:137497527A>C	ENST00000254900.5	-	17	2578	c.2207T>G	c.(2206-2208)gTt>gGt	p.V736G	BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000411594.2_Missense_Mutation_p.V739G|BRD8_ENST00000455658.2_Missense_Mutation_p.V695G|BRD8_ENST00000230901.5_Missense_Mutation_p.V809G|BRD8_ENST00000402931.1_Missense_Mutation_p.V736G	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	736	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTCATCTGTAACAGGCTGCAG	0.458																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(2206-2208)gTt>gGt		bromodomain containing 8							95.0	85.0	89.0					5																	137497527		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137497527A>C	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2207T>G	5.37:g.137497527A>C	ENSP00000254900:p.Val736Gly					BRD8_ENST00000411594.2_Missense_Mutation_p.V739G|BRD8_ENST00000402931.1_Missense_Mutation_p.V736G|BRD8_ENST00000230901.5_Missense_Mutation_p.V809G|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000455658.2_Missense_Mutation_p.V695G	p.V736G	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		17	2578	-			736			Bromo 1.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.2207T>G	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.8|29.8	5.038123|5.038123	0.93630|0.93630	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	.|T;T;T;T;T;T;T	.|0.29655	.|1.56;1.56;1.56;1.56;1.56;1.56;1.56	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Bromodomain (6);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71736|0.71736	0.3375|0.3375	H|H	0.98005|0.98005	4.125|4.125	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.978;0.998;0.997;0.998;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.982;0.996;0.999;0.94;0.996;0.991;0.995;0.999	T|T	0.82961|0.82961	-0.0197|-0.0197	5|10	.|0.87932	.|D	.|0	-26.0346|-26.0346	16.0034|16.0034	0.80327|0.80327	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|695;720;515;809;739;630;809;736	.|F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.|.;.;.;.;.;.;.;BRD8_HUMAN	V|G	730|736;765;734;809;736;739;630;695	.|ENSP00000254900:V736G;ENSP00000398067:V765G;ENSP00000398873:V734G;ENSP00000230901:V809G;ENSP00000384845:V736G;ENSP00000394330:V739G;ENSP00000408396:V695G	.|ENSP00000230901:V809G	L|V	-|-	1|2	2|0	BRD8|BRD8	137525426|137525426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.339000|9.339000	0.96797|0.96797	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTA|GTT		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		8	36	0	0	0	1	0	8	36				
CA3	761	broad.mit.edu	37	8	86352120	86352120	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:86352120G>C	ENST00000285381.2	+	2	297	c.214G>C	c.(214-216)Gat>Cat	p.D72H	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	72					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	TGTATTTGATGATACTTATGA	0.428																																						ENST00000285381.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(214-216)Gat>Cat		carbonic anhydrase III, muscle specific							95.0	84.0	87.0					8																	86352120		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86352120G>C	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.214G>C	8.37:g.86352120G>C	ENSP00000285381:p.Asp72His						p.D72H	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN			2	297	+			72					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.214G>C	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204580	0.79127	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.71461	-0.57	5.81	5.81	0.92471	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.042098	0.85682	D	0.000000	D	0.88855	0.6550	M	0.93939	3.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91018	0.4855	10	0.87932	D	0	-26.6429	19.0778	0.93169	0.0:0.0:1.0:0.0	.	72	P07451	CAH3_HUMAN	H	72;56	ENSP00000285381:D72H	ENSP00000285381:D72H	D	+	1	0	CA3	86539372	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.816000	0.91979	2.741000	0.93983	0.650000	0.86243	GAT		0.428	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		10	46	0	0	0	1	0	10	46				
PSG3	5671	broad.mit.edu	37	19	43233993	43233993	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:43233993G>C	ENST00000327495.5	-	4	1109	c.925C>G	c.(925-927)Caa>Gaa	p.Q309E	PSG3_ENST00000595140.1_Missense_Mutation_p.Q309E	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	309	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATTTCACATTGATAGGGTCCT	0.502																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(925-927)Caa>Gaa		pregnancy specific beta-1-glycoprotein 3							157.0	136.0	144.0					19																	43233993		1511	2709	4220	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233993G>C		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.925C>G	19.37:g.43233993G>C	ENSP00000332215:p.Gln309Glu					PSG3_ENST00000595140.1_Missense_Mutation_p.Q309E	p.Q309E	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			4	1109	-		Prostate(69;0.00682)	309			Ig-like C2-type 2.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.925C>G	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.667450	0.00765	.	.	ENSG00000221826	ENST00000327495	T	0.11712	2.75	1.14	-2.29	0.06805	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02970	0.0088	N	0.01493	-0.835	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.006;0.012	T	0.44019	-0.9355	9	0.12103	T	0.63	.	6.6764	0.23095	0.0:0.4076:0.5924:0.0	.	287;309	Q08266;Q16557	.;PSG3_HUMAN	E	309	ENSP00000332215:Q309E	ENSP00000332215:Q309E	Q	-	1	0	PSG3	47925833	0.002000	0.14202	0.007000	0.13788	0.001000	0.01503	-0.734000	0.04893	-1.672000	0.01464	-2.048000	0.00412	CAA		0.502	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		38	129	0	0	0	1	0	38	129				
C7orf25	79020	broad.mit.edu	37	7	42949829	42949829	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr7:42949829C>G	ENST00000350427.4	-	2	946	c.671G>C	c.(670-672)aGa>aCa	p.R224T	C7orf25_ENST00000447342.1_Missense_Mutation_p.R224T|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.R282T|C7orf25_ENST00000438029.1_Missense_Mutation_p.R224T			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	224										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TCGGTCAACTCTGGTCACCTG	0.423																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(670-672)aGa>aCa		chromosome 7 open reading frame 25							77.0	77.0	77.0					7																	42949829		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949829C>G	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.671G>C	7.37:g.42949829C>G	ENSP00000343364:p.Arg224Thr					C7orf25_ENST00000431882.2_Missense_Mutation_p.R282T|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.R224T|C7orf25_ENST00000447342.1_Missense_Mutation_p.R224T	p.R224T			Q9BPX7	CG025_HUMAN			2	946	-			224					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.671G>C	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	6.748	0.506902	0.12883	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.75	5.75	0.90469	.	0.102454	0.64402	D	0.000006	T	0.34716	0.0907	L	0.51422	1.61	0.49483	D	0.999795	B;B	0.33777	0.425;0.027	B;B	0.34418	0.182;0.022	T	0.08207	-1.0733	10	0.13853	T	0.58	2.4702	10.4075	0.44272	0.0:0.8555:0.0:0.1445	.	282;224	B4DQM3;Q9BPX7	.;CG025_HUMAN	T	224;224;282;224	ENSP00000343364:R224T;ENSP00000413029:R224T;ENSP00000416290:R282T;ENSP00000396597:R224T	ENSP00000343364:R224T	R	-	2	0	C7orf25	42916354	0.991000	0.36638	0.999000	0.59377	0.965000	0.64279	2.499000	0.45372	2.731000	0.93534	0.556000	0.70494	AGA		0.423	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		27	52	0	0	0	1	0	27	52				
KRT82	3888	broad.mit.edu	37	12	52797498	52797498	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:52797498C>T	ENST00000257974.2	-	2	684	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	203	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		ttcttgtagccctccagtgcA	0.582																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(607-609)Ggc>Agc		keratin 82							76.0	81.0	79.0					12																	52797498		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52797498C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.607G>A	12.37:g.52797498C>T	ENSP00000257974:p.Gly203Ser						p.G203S	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	2	684	-			203			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.607G>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153047	0.57259	.	.	ENSG00000161850	ENST00000257974	T	0.74315	-0.83	5.21	3.37	0.38596	Filament (1);	0.389172	0.21810	N	0.068794	T	0.68348	0.2991	L	0.51853	1.615	0.36893	D	0.889978	B	0.13145	0.007	B	0.22601	0.04	T	0.71537	-0.4563	10	0.62326	D	0.03	.	11.2693	0.49129	0.0:0.8509:0.0:0.1491	.	203	Q9NSB4	KRT82_HUMAN	S	203	ENSP00000257974:G203S	ENSP00000257974:G203S	G	-	1	0	KRT82	51083765	0.748000	0.28294	1.000000	0.80357	0.598000	0.36846	2.046000	0.41260	1.337000	0.45525	0.462000	0.41574	GGC		0.582	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		27	101	0	0	0	1	0	27	101				
UNC13B	10497	broad.mit.edu	37	9	35398240	35398240	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:35398240G>A	ENST00000378495.3	+	30	3762	c.3540G>A	c.(3538-3540)ctG>ctA	p.L1180L	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Silent_p.L1180L|UNC13B_ENST00000396787.1_Silent_p.L1192L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1180					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAGCAACTGAGGGTCCAGC	0.512																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3538-3540)ctG>ctA		unc-13 homolog B (C. elegans)							125.0	96.0	106.0					9																	35398240		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35398240G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3540G>A	9.37:g.35398240G>A						UNC13B_ENST00000396787.1_Silent_p.L1192L|UNC13B_ENST00000378496.4_Silent_p.L1180L|UNC13B_ENST00000481299.1_3'UTR	p.L1180L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		30	3762	+	all_epithelial(49;0.212)		1180					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.3540G>A	CCDS6579.1																																																																																				0.512	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		9	22	0	0	0	1	0	9	22				
FYN	2534	broad.mit.edu	37	6	112021406	112021406	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:112021406C>T	ENST00000354650.3	-	9	1369	c.763G>A	c.(763-765)Gat>Aat	p.D255N	FYN_ENST00000229470.5_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000538466.1_Intron|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368682.3_Intron|FYN_ENST00000368667.2_Missense_Mutation_p.D255N|FYN_ENST00000356013.2_Intron|FYN_ENST00000368678.4_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	255					activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	ACAGACAGATCGGTAAGCCTT	0.542																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(763-765)Gat>Aat		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						137.0	130.0	132.0					6																	112021406		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112021406C>T	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.763G>A	6.37:g.112021406C>T	ENSP00000346671:p.Asp255Asn					FYN_ENST00000229471.4_Intron|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368682.3_Intron|FYN_ENST00000229470.5_Intron|FYN_ENST00000368678.4_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000368667.2_Missense_Mutation_p.D255N|FYN_ENST00000538466.1_Intron	p.D255N	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	9	1369	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	255					B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.763G>A	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324844	0.81580	.	.	ENSG00000010810	ENST00000354650;ENST00000368667	T;T	0.74209	-0.82;-0.82	5.77	5.77	0.91146	Protein kinase-like domain (1);SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	M	0.80982	2.52	0.80722	D	1	B	0.32010	0.351	B	0.25987	0.065	T	0.74006	-0.3803	10	0.72032	D	0.01	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	255	P06241	FYN_HUMAN	N	255	ENSP00000346671:D255N;ENSP00000357656:D255N	ENSP00000346671:D255N	D	-	1	0	FYN	112128099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	GAT		0.542	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			24	68	0	0	0	1	0	24	68				
TDRD1	56165	broad.mit.edu	37	10	115971687	115971687	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:115971687G>A	ENST00000369280.1	+	14	2183	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	TDRD1_ENST00000251864.2_Missense_Mutation_p.G575R|TDRD1_ENST00000369282.1_Missense_Mutation_p.G575R|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	575	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTACTGGTCGGATATGTAGA	0.398																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1723-1725)Gga>Aga		tudor domain containing 1							171.0	163.0	166.0					10																	115971687		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115971687G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1723G>A	10.37:g.115971687G>A	ENSP00000358286:p.Gly575Arg					TDRD1_ENST00000369280.1_Missense_Mutation_p.G575R|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.G575R|TDRD1_ENST00000369281.2_Intron	p.G575R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	14	1876	+		Colorectal(252;0.172)|Breast(234;0.188)	575			Tudor 2.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1723G>A		.	.	.	.	.	.	.	.	.	.	G	19.61	3.860220	0.71834	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369280	T;T;T	0.08102	3.13;3.13;3.13	5.8	5.8	0.92144	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.120852	0.56097	D	0.000029	T	0.11836	0.0288	N	0.11201	0.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	T	0.43782	-0.9370	10	0.12766	T	0.61	-21.7872	13.4936	0.61411	0.0741:0.0:0.9259:0.0	.	575;575	Q9BXT4;Q9BXT4-3	TDRD1_HUMAN;.	R	575	ENSP00000358288:G575R;ENSP00000251864:G575R;ENSP00000358286:G575R	ENSP00000251864:G575R	G	+	1	0	TDRD1	115961677	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	5.326000	0.65875	2.730000	0.93505	0.563000	0.77884	GGA		0.398	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			26	69	0	0	0	1	0	26	69				
MMP10	4319	broad.mit.edu	37	11	102647507	102647507	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:102647507C>T	ENST00000279441.4	-	5	659	c.623G>A	c.(622-624)gGc>gAc	p.G208D		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	208					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TAAATTGGTGCCTGTATGAAA	0.438																																						ENST00000279441.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22						c.e5-1		matrix metallopeptidase 10 (stromelysin 2)							84.0	86.0	85.0					11																	102647507		2203	4299	6502	SO:0001630	splice_region_variant	4319				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102647507C>T	X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.623-1G>A	11.37:g.102647507C>T							p.G208_splice	NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	5	659	-	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	208					B2R9X9|Q53HH9	Splice_Site	SNP	ENST00000279441.4	37	c.622_splice	CCDS8321.1	.	.	.	.	.	.	.	.	.	.	c	13.06	2.124652	0.37533	.	.	ENSG00000166670	ENST00000279441	T	0.22134	1.97	4.27	4.27	0.50696	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000012	T	0.54679	0.1873	M	0.90309	3.105	0.51767	D	0.999939	D	0.89917	1.0	D	0.97110	1.0	T	0.66002	-0.6031	10	0.59425	D	0.04	.	17.3249	0.87244	0.0:1.0:0.0:0.0	.	208	P09238	MMP10_HUMAN	D	208	ENSP00000279441:G208D	ENSP00000279441:G208D	G	-	2	0	MMP10	102152717	0.961000	0.32948	0.738000	0.30950	0.154000	0.21943	2.237000	0.43061	2.352000	0.79861	0.650000	0.86243	GGC		0.438	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398014.1		Missense_Mutation	18	385	0	0	0	1	0	18	385				
TMED2	10959	broad.mit.edu	37	12	124069243	124069243	+	Silent	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:124069243C>G	ENST00000262225.3	+	1	166	c.60C>G	c.(58-60)ggC>ggG	p.G20G	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	20	Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CGGTCTCGGGCTATTTCGTTA	0.642																																						ENST00000262225.3																			0				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7						c.(58-60)ggC>ggG		transmembrane emp24 domain trafficking protein 2							55.0	50.0	52.0					12																	124069243		2203	4300	6503	SO:0001819	synonymous_variant	10959				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding	g.chr12:124069243C>G	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.60C>G	12.37:g.124069243C>G						RP11-486O12.2_ENST00000498967.2_lincRNA	p.G20G	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)	1	166	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		20						Silent	SNP	ENST00000262225.3	37	c.60C>G	CCDS9250.1																																																																																				0.642	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1	NM_006815		6	27	0	0	0	1	0	6	27				
CDC42BPG	55561	broad.mit.edu	37	11	64594814	64594814	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:64594814G>A	ENST00000342711.5	-	33	4206	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTCTTGGTGCGGAACAGCTGG	0.652																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4207-4209)Cgc>Tgc		CDC42 binding protein kinase gamma (DMPK-like)							84.0	96.0	92.0					11																	64594814		2201	4297	6498	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64594814G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4207C>T	11.37:g.64594814G>A	ENSP00000345133:p.Arg1403Cys						p.R1403C	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			33	4206	-			1403						Missense_Mutation	SNP	ENST00000342711.5	37	c.4207C>T	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513433	0.85389	.	.	ENSG00000171219	ENST00000342711	T	0.72394	-0.65	4.82	4.82	0.62117	.	0.000000	0.45126	D	0.000399	D	0.84170	0.5413	M	0.81942	2.565	0.53688	D	0.999972	D	0.89917	1.0	D	0.73708	0.981	D	0.86677	0.1914	10	0.87932	D	0	.	15.8054	0.78501	0.0:0.0:1.0:0.0	.	1403	Q6DT37	MRCKG_HUMAN	C	1403	ENSP00000345133:R1403C	ENSP00000345133:R1403C	R	-	1	0	CDC42BPG	64351390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.728000	0.54991	2.409000	0.81822	0.561000	0.74099	CGC		0.652	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		23	123	0	0	0	1	0	23	123				
STK11	6794	broad.mit.edu	37	19	1218423	1218423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:1218423C>T	ENST00000326873.7	+	2	1471	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGAAATTCAACTACTGAG	0.527		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		24	Whole gene deletion(20)|Unknown(3)|Deletion - Frameshift(1)	p.0?(20)|p.?(4)	cervix(16)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328	GRCh37	CM991151	STK11	M		c.(298-300)Caa>Taa		serine/threonine kinase 11							152.0	158.0	156.0					19																	1218423		2022	4168	6190	SO:0001587	stop_gained	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1218423C>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.298C>T	19.37:g.1218423C>T	ENSP00000324856:p.Gln100*	TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_3'UTR	p.Q100*	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1471	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	100			Protein kinase.		B2RBX7|E7EW76	Nonsense_Mutation	SNP	ENST00000326873.7	37	c.298C>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	C	45	11.490171	0.99567	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	4.1	2.97	0.34412	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.7657	12.2084	0.54365	0.0:0.8271:0.1729:0.0	.	.	.	.	X	100	.	ENSP00000324856:Q100X	Q	+	1	0	STK11	1169423	1.000000	0.71417	0.622000	0.29159	0.341000	0.28922	5.854000	0.69503	1.846000	0.53633	0.491000	0.48974	CAA		0.527	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		20	51	0	0	0	1	0	20	51				
USP4	7375	broad.mit.edu	37	3	49316263	49316263	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:49316263G>C	ENST00000265560.4	-	21	2763	c.2717C>G	c.(2716-2718)tCt>tGt	p.S906C	C3orf62_ENST00000343010.3_5'Flank|USP4_ENST00000351842.4_Missense_Mutation_p.S859C	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	906	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CTGATCCTCAGAGGCCAGGGA	0.423																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2575-2577)tCt>tGt		ubiquitin specific peptidase 4 (proto-oncogene)							297.0	277.0	284.0					3																	49316263		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49316263G>C	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2717C>G	3.37:g.49316263G>C	ENSP00000265560:p.Ser906Cys					USP4_ENST00000265560.4_Missense_Mutation_p.S906C	p.S859C	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	20	2584	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	906					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.2576C>G	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117614	0.56505	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.03580	3.88;3.88	5.45	4.57	0.56435	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.169858	0.53938	N	0.000049	T	0.11879	0.0289	M	0.89904	3.07	0.80722	D	1	B;B	0.20459	0.045;0.039	B;B	0.28553	0.074;0.091	T	0.01557	-1.1325	10	0.54805	T	0.06	-12.338	15.297	0.73916	0.0:0.1409:0.8591:0.0	.	859;906	Q13107-2;Q13107	.;UBP4_HUMAN	C	859;906	ENSP00000341028:S859C;ENSP00000265560:S906C	ENSP00000265560:S906C	S	-	2	0	USP4	49291267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.600000	0.74132	1.413000	0.46997	0.655000	0.94253	TCT		0.423	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		36	50	0	0	0	1	0	36	50				
SSTR1	6751	broad.mit.edu	37	14	38679420	38679420	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:38679420G>A	ENST00000267377.2	+	3	1443	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	276					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GGTGATGATGGTGGTGATGGT	0.572																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(826-828)Gtg>Atg		somatostatin receptor 1	Octreotide(DB00104)						106.0	92.0	97.0					14																	38679420		2203	4300	6503	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679420G>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.826G>A	14.37:g.38679420G>A	ENSP00000267377:p.Val276Met						p.V276M	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1443	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		276						Missense_Mutation	SNP	ENST00000267377.2	37	c.826G>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378445	0.82682	.	.	ENSG00000139874	ENST00000267377	T	0.46063	0.88	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.61974	0.2390	M	0.75777	2.31	0.80722	D	1	P	0.46220	0.874	P	0.57620	0.824	T	0.66563	-0.5892	10	0.87932	D	0	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	276	P30872	SSR1_HUMAN	M	276	ENSP00000267377:V276M	ENSP00000267377:V276M	V	+	1	0	SSTR1	37749171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.514000	0.84764	0.561000	0.74099	GTG		0.572	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			13	44	0	0	0	1	0	13	44				
FICD	11153	broad.mit.edu	37	12	108912624	108912624	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:108912624G>A	ENST00000552695.1	+	3	984	c.749G>A	c.(748-750)cGc>cAc	p.R250H	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	250					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CTGGAGACCCGCTACGCCGTG	0.582																																						ENST00000552695.1																			0				NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						c.(748-750)cGc>cAc		FIC domain containing							101.0	76.0	84.0					12																	108912624		2203	4300	6503	SO:0001583	missense	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108912624G>A	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.749G>A	12.37:g.108912624G>A	ENSP00000446479:p.Arg250His					FICD_ENST00000361549.2_3'UTR	p.R250H	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN			3	984	+			250					O75406	Missense_Mutation	SNP	ENST00000552695.1	37	c.749G>A	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834175	0.91036	.	.	ENSG00000198855	ENST00000552695	.	.	.	6.07	6.07	0.98685	Filamentation induced by cAMP/death on curing-related (1);	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.77504	-0.2563	9	0.49607	T	0.09	-19.7424	20.6439	0.99570	0.0:0.0:1.0:0.0	.	250	Q9BVA6	FICD_HUMAN	H	250	.	ENSP00000446479:R250H	R	+	2	0	FICD	107436754	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CGC		0.582	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		14	37	0	0	0	1	0	14	37				
SP2	6668	broad.mit.edu	37	17	45994113	45994113	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:45994113G>A	ENST00000376741.4	+	3	813	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	226					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CAGTGACACCGGGGCCCCTAC	0.612																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(676-678)Ggg>Agg		Sp2 transcription factor							69.0	73.0	71.0					17																	45994113		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994113G>A		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.676G>A	17.37:g.45994113G>A	ENSP00000365931:p.Gly226Arg					AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	p.G226R	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	813	+			226					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.676G>A	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969762	0.53614	.	.	ENSG00000167182	ENST00000376741;ENST00000322172	T	0.11277	2.79	5.39	5.39	0.77823	.	0.173496	0.49916	D	0.000126	T	0.18299	0.0439	M	0.65975	2.015	0.53688	D	0.999979	D	0.60160	0.987	P	0.47915	0.561	T	0.00155	-1.1980	10	0.56958	D	0.05	.	12.062	0.53568	0.0817:0.0:0.9183:0.0	.	226	Q02086	SP2_HUMAN	R	226;219	ENSP00000365931:G226R	ENSP00000316942:G219R	G	+	1	0	SP2	43349112	1.000000	0.71417	0.958000	0.39756	0.827000	0.46813	5.131000	0.64751	2.809000	0.96659	0.467000	0.42956	GGG		0.612	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		21	70	0	0	0	1	0	21	70				
SPSB3	90864	broad.mit.edu	37	16	1828538	1828538	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:1828538C>T	ENST00000566339.1	-	3	532	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SPSB3_ENST00000301717.4_Missense_Mutation_p.E68K	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	68					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CAGAAGGACTCGCCGGTCACG	0.677																																						ENST00000566339.1																			0				endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						c.(202-204)Gag>Aag		splA/ryanodine receptor domain and SOCS box containing 3							70.0	73.0	72.0					16																	1828538		2198	4300	6498	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1828538C>T		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.202G>A	16.37:g.1828538C>T	ENSP00000457206:p.Glu68Lys					SPSB3_ENST00000301717.4_Missense_Mutation_p.E68K	p.E68K	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN			3	532	-			68					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.202G>A	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671848	0.88348	.	.	ENSG00000162032	ENST00000301717	T	0.51574	0.7	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.64404	1.975	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.857	T	0.70285	-0.4914	10	0.72032	D	0.01	-15.5224	16.8053	0.85625	0.0:1.0:0.0:0.0	.	123;68	B7Z7H9;Q6PJ21	.;SPSB3_HUMAN	K	68	ENSP00000301717:E68K	ENSP00000301717:E68K	E	-	1	0	SPSB3	1768539	1.000000	0.71417	0.966000	0.40874	0.067000	0.16453	7.375000	0.79646	2.300000	0.77407	0.561000	0.74099	GAG		0.677	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		18	46	0	0	0	1	0	18	46				
TMCO2	127391	broad.mit.edu	37	1	40717103	40717103	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:40717103T>C	ENST00000372766.3	+	2	479	c.386T>C	c.(385-387)aTt>aCt	p.I129T	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	129						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CAAGAGAAAATTTTGAAAAAA	0.413																																						ENST00000372766.3																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(385-387)aTt>aCt		transmembrane and coiled-coil domains 2							62.0	66.0	65.0					1																	40717103		2203	4300	6503	SO:0001583	missense	127391					integral to membrane		g.chr1:40717103T>C	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.386T>C	1.37:g.40717103T>C	ENSP00000361852:p.Ile129Thr					TMCO2_ENST00000468258.1_3'UTR	p.I129T	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		2	479	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	129						Missense_Mutation	SNP	ENST00000372766.3	37	c.386T>C	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561761	0.65538	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.11	5.11	0.69529	.	0.000000	0.56097	D	0.000030	T	0.60612	0.2282	L	0.32530	0.975	0.33268	D	0.560617	D	0.76494	0.999	D	0.83275	0.996	T	0.71351	-0.4619	9	0.87932	D	0	-12.2962	11.2249	0.48877	0.0:0.0:0.0:1.0	.	129	Q7Z6W1	TMCO2_HUMAN	T	129	.	ENSP00000361852:I129T	I	+	2	0	TMCO2	40489690	0.998000	0.40836	0.998000	0.56505	0.964000	0.63967	3.432000	0.52824	2.151000	0.67156	0.528000	0.53228	ATT		0.413	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		11	49	0	0	0	1	0	11	49				
MORN3	283385	broad.mit.edu	37	12	122097169	122097169	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:122097169G>A	ENST00000355329.3	-	2	401	c.231C>T	c.(229-231)ctC>ctT	p.L77L		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	77						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAGGAAGGCTGAGGGTGCCGT	0.557																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(229-231)ctC>ctT		MORN repeat containing 3							157.0	129.0	138.0					12																	122097169		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122097169G>A	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.231C>T	12.37:g.122097169G>A							p.L77L	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	2	401	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		77					Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.231C>T	CCDS31917.1																																																																																				0.557	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		21	43	0	0	0	1	0	21	43				
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:7578524G>C	ENST00000269305.4	-	5	595	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000420246.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E	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	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TTGGCCAGTTGGCAAAACATC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	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"""		67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM971503	TP53	M		c.(406-408)Caa>Gaa	Other conserved DNA damage response genes	tumor protein p53							52.0	52.0	52.0					17																	7578524		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.chr17:7578524G>C	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.406C>G	17.37:g.7578524G>C	ENSP00000269305:p.Gln136Glu	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_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E	p.Q136E	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)	5	538	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.406C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708589	0.89018	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.85373	2.75	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.95;0.977;0.572;0.989;0.996;0.981;0.996	P;D;B;P;D;D;D	0.69654	0.794;0.928;0.197;0.888;0.965;0.941;0.909	D	0.97401	0.9996	10	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136E;ENSP00000352610:Q136E;ENSP00000269305:Q136E;ENSP00000398846:Q136E;ENSP00000391127:Q136E;ENSP00000391478:Q136E;ENSP00000425104:Q4E;ENSP00000423862:Q43E;ENSP00000424104:Q136E	ENSP00000269305:Q136E	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	43	0	0	0	1	0	11	43				
PCBP2	5094	broad.mit.edu	37	12	53854798	53854798	+	Splice_Site	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:53854798G>A	ENST00000439930.3	+	6	397		c.e6-1		PCBP2_ENST00000541275.1_Splice_Site|PCBP2_ENST00000546463.1_Splice_Site|PCBP2_ENST00000552819.1_Splice_Site|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359462.5_Splice_Site|PCBP2_ENST00000455667.3_Splice_Site|PCBP2_ENST00000603815.1_Splice_Site|PCBP2_ENST00000552296.2_Splice_Site|PCBP2_ENST00000437231.1_Splice_Site|PCBP2_ENST00000359282.5_Splice_Site|PCBP2_ENST00000549863.1_Splice_Site|PCBP2_ENST00000447282.1_Splice_Site|PCBP2_ENST00000548933.1_Splice_Site			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TTACTCCAAAGAGTACAGGGG	0.438																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.e7-1		poly(rC) binding protein 2							106.0	105.0	105.0					12																	53854798		2203	4300	6503	SO:0001630	splice_region_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53854798G>A	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.376-1G>A	12.37:g.53854798G>A						RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Splice_Site|PCBP2_ENST00000359282.5_Splice_Site|PCBP2_ENST00000437231.1_Splice_Site|PCBP2_ENST00000552819.1_Splice_Site|PCBP2_ENST00000439930.3_Splice_Site|PCBP2_ENST00000359462.5_Splice_Site|PCBP2_ENST00000455667.3_Splice_Site|PCBP2_ENST00000541275.1_Splice_Site|PCBP2_ENST00000549863.1_Splice_Site|PCBP2_ENST00000548933.1_Splice_Site|PCBP2_ENST00000552296.2_Splice_Site|PCBP2_ENST00000546463.1_Splice_Site		NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			7	725	+								A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Splice_Site	SNP	ENST00000439930.3	37		CCDS44901.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928257	0.52759	.	.	ENSG00000197111	ENST00000541275;ENST00000359282;ENST00000447282;ENST00000437231;ENST00000439930;ENST00000549863;ENST00000359462;ENST00000550927;ENST00000546463;ENST00000551104;ENST00000550520;ENST00000552296;ENST00000552083;ENST00000552819;ENST00000455667;ENST00000548933;ENST00000546652;ENST00000379777	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1345	0.89614	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCBP2	52141065	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.400000	0.73252	2.822000	0.97130	0.558000	0.71614	.		0.438	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016	Intron	16	40	0	0	0	1	0	16	40				
DYNC2H1	79659	broad.mit.edu	37	11	102988494	102988494	+	Silent	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr11:102988494C>T	ENST00000375735.2	+	6	1045	c.901C>T	c.(901-903)Cta>Tta	p.L301L	DYNC2H1_ENST00000398093.3_Silent_p.L301L|DYNC2H1_ENST00000334267.7_Silent_p.L301L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	301	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGTAATCATCTAACAGGTCA	0.403																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(901-903)Cta>Tta		dynein, cytoplasmic 2, heavy chain 1							112.0	107.0	109.0					11																	102988494		1893	4124	6017	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102988494C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.901C>T	11.37:g.102988494C>T						DYNC2H1_ENST00000334267.7_Silent_p.L301L|DYNC2H1_ENST00000398093.3_Silent_p.L301L	p.L301L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	6	1045	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	301			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.901C>T	CCDS53701.1																																																																																				0.403	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		14	272	0	0	0	1	0	14	272				
AFTPH	54812	broad.mit.edu	37	2	64780062	64780062	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:64780062A>G	ENST00000422803.1	+	2	1768	c.1454A>G	c.(1453-1455)aAt>aGt	p.N485S	AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409933.1_Missense_Mutation_p.N485S|AFTPH_ENST00000238856.4_Missense_Mutation_p.N485S|AFTPH_ENST00000238855.7_Missense_Mutation_p.N485S|AFTPH_ENST00000409183.1_Missense_Mutation_p.N116S			Q6ULP2	AFTIN_HUMAN	aftiphilin	485					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GGGGATATAAATGCTGTTTCT	0.363																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1453-1455)aAt>aGt		aftiphilin							108.0	109.0	109.0					2																	64780062		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780062A>G	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1454A>G	2.37:g.64780062A>G	ENSP00000397726:p.Asn485Ser					AFTPH_ENST00000409183.1_Missense_Mutation_p.N116S|AFTPH_ENST00000238856.4_Missense_Mutation_p.N485S|AFTPH_ENST00000409933.1_Missense_Mutation_p.N485S|AFTPH_ENST00000238855.7_Missense_Mutation_p.N485S|AFTPH_ENST00000487769.1_3'UTR	p.N485S			Q6ULP2	AFTIN_HUMAN			2	1768	+			485					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1454A>G		.	.	.	.	.	.	.	.	.	.	A	3.253	-0.152807	0.06585	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.44881	1.92;1.93;1.92;1.92;0.91	6.06	-1.06	0.10002	.	0.556870	0.20293	N	0.095190	T	0.30198	0.0757	L	0.52364	1.645	0.09310	N	1	B;B;B;B	0.12013	0.002;0.002;0.005;0.005	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.18650	-1.0330	10	0.27785	T	0.31	-3.5088	7.2199	0.25981	0.5654:0.1128:0.3218:0.0	.	485;485;485;485	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	S	485;485;485;485;116	ENSP00000238856:N485S;ENSP00000397726:N485S;ENSP00000238855:N485S;ENSP00000387071:N485S;ENSP00000386913:N116S	ENSP00000238855:N485S	N	+	2	0	AFTPH	64633566	0.688000	0.27680	0.267000	0.24556	0.803000	0.45373	0.306000	0.19279	-0.141000	0.11374	0.528000	0.53228	AAT		0.363	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		34	74	0	0	0	1	0	34	74				
RGS22	26166	broad.mit.edu	37	8	101075915	101075915	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr8:101075915G>A	ENST00000360863.6	-	8	1275	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	RGS22_ENST00000523437.1_Missense_Mutation_p.H349Y|RGS22_ENST00000523287.1_Missense_Mutation_p.H180Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	361					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCTTGCCATGAATAGACTCA	0.343																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1081-1083)Cat>Tat		regulator of G-protein signaling 22							98.0	86.0	90.0					8																	101075915		1820	4080	5900	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101075915G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1081C>T	8.37:g.101075915G>A	ENSP00000354109:p.His361Tyr					RGS22_ENST00000523437.1_Missense_Mutation_p.H349Y|RGS22_ENST00000523287.1_Missense_Mutation_p.H180Y	p.H361Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1275	-			361					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1081C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	9.154	1.016955	0.19355	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.29917	1.55;1.55;1.55	5.41	-9.4	0.00616	.	2.379240	0.01062	N	0.004672	T	0.11750	0.0286	N	0.22421	0.69	0.09310	N	1	B;B;B	0.20671	0.008;0.008;0.047	B;B;B	0.15870	0.006;0.006;0.014	T	0.35773	-0.9775	10	0.02654	T	1	.	0.6204	0.00777	0.3692:0.155:0.2411:0.2347	.	349;361;180	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Y	361;349;180;349	ENSP00000354109:H361Y;ENSP00000429382:H180Y;ENSP00000428212:H349Y	ENSP00000354109:H361Y	H	-	1	0	RGS22	101145091	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.780000	0.01775	-1.432000	0.01979	-1.107000	0.02091	CAT		0.343	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		16	59	0	0	0	1	0	16	59				
DIP2B	57609	broad.mit.edu	37	12	51072582	51072582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:51072582G>A	ENST00000301180.5	+	8	1071	c.1037G>A	c.(1036-1038)tGg>tAg	p.W346*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	346						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGCAGCGCTGGGGTACCACT	0.532																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1036-1038)tGg>tAg		DIP2 disco-interacting protein 2 homolog B (Drosophila)							80.0	72.0	75.0					12																	51072582		2203	4300	6503	SO:0001587	stop_gained	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51072582G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1037G>A	12.37:g.51072582G>A	ENSP00000301180:p.Trp346*						p.W346*	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			8	1071	+			346					Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	37	c.1037G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307966	0.95629	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-9.0015	18.2696	0.90064	0.0:0.0:1.0:0.0	.	.	.	.	X	356;346	.	ENSP00000301180:W346X	W	+	2	0	DIP2B	49358849	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.619000	0.88677	0.467000	0.42956	TGG		0.532	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		16	29	0	0	0	1	0	16	29				
HLA-DQB2	3120	broad.mit.edu	37	6	32726803	32726803	+	Missense_Mutation	SNP	C	C	T	rs1049110	byFrequency	TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr6:32726803C>T	ENST00000437316.2	-	3	533	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R157Q|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.R157Q			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	161	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCGAAACCACCGGACTTTGAT	0.547																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(469-471)cGg>cAg		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32726803C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.470G>A	6.37:g.32726803C>T	ENSP00000396330:p.Arg157Gln					HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R157Q|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.R157Q	p.R157Q			Q5SR06	Q5SR06_HUMAN			3	531	-			157					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.470G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.106|9.106	1.005354|1.005354	0.19199|0.19199	.|.	.|.	ENSG00000232629|ENSG00000232629	ENST00000427449|ENST00000437316;ENST00000435145;ENST00000411527	.|T;T;T	.|0.02709	.|4.19;4.19;4.19	3.43|3.43	-2.23|-2.23	0.06930|0.06930	.|.	.|1.315740	.|0.05325	.|N	.|0.527239	T|T	0.01029|0.01029	0.0034|0.0034	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	P|P	0.0|0.0	.|B;P	.|0.39282	.|0.227;0.666	.|B;B	.|0.24974	.|0.021;0.057	T|T	0.45629|0.45629	-0.9248|-0.9248	4|9	.|0.66056	.|D	.|0.02	.|.	4.6583|4.6583	0.12630|0.12630	0.0:0.2967:0.2518:0.4515|0.0:0.2967:0.2518:0.4515	rs1049110;rs3189204;rs3213482;rs17840145;rs17853002;rs34594032;rs58630299;rs1049110|rs1049110;rs3189204;rs3213482;rs17840145;rs17853002;rs34594032;rs58630299;rs1049110	.|157;157	.|A2ADX3;Q5SR06	.|.;.	S|Q	156|157	.|ENSP00000396330:R157Q;ENSP00000410512:R157Q;ENSP00000390431:R157Q	.|ENSP00000390431:R157Q	G|R	-|-	1|2	0|0	HLA-DQB2|HLA-DQB2	32834781|32834781	0.000000|0.000000	0.05858|0.05858	0.721000|0.721000	0.30653|0.30653	0.360000|0.360000	0.29518|0.29518	-0.503000|-0.503000	0.06383|0.06383	-0.273000|-0.273000	0.09246|0.09246	-1.174000|-1.174000	0.01732|0.01732	GGT|CGG		0.547	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			8	100	0	0	0	1	0	8	100				
ICA1L	130026	broad.mit.edu	37	2	203686198	203686198	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:203686198G>C	ENST00000392237.2	-	5	399	c.242C>G	c.(241-243)tCa>tGa	p.S81*	ICA1L_ENST00000425178.1_Nonsense_Mutation_p.S81*|ICA1L_ENST00000418208.1_Intron|ICA1L_ENST00000358299.2_Nonsense_Mutation_p.S81*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	81	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTTCCTCTGATATAACTAG	0.353																																						ENST00000392237.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(241-243)tCa>tGa		islet cell autoantigen 1,69kDa-like							48.0	48.0	48.0					2																	203686198		2203	4300	6503	SO:0001587	stop_gained	130026							g.chr2:203686198G>C	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.242C>G	2.37:g.203686198G>C	ENSP00000376070:p.Ser81*					ICA1L_ENST00000418208.1_Intron|ICA1L_ENST00000425178.1_Nonsense_Mutation_p.S81*|ICA1L_ENST00000358299.2_Nonsense_Mutation_p.S81*	p.S81*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN			5	399	-			81			AH.		B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Nonsense_Mutation	SNP	ENST00000392237.2	37	c.242C>G	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371016	0.95923	.	.	ENSG00000163596	ENST00000392237;ENST00000358299;ENST00000425178;ENST00000450143;ENST00000435143;ENST00000419460;ENST00000441547;ENST00000412210;ENST00000457524;ENST00000432273;ENST00000416760;ENST00000454326	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	17.6329	0.88114	0.0:0.0:1.0:0.0	.	.	.	.	X	81	.	ENSP00000351047:S81X	S	-	2	0	ICA1L	203394443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.578000	0.82498	2.764000	0.94973	0.655000	0.94253	TCA		0.353	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		15	27	0	0	0	1	0	15	27				
PNN	5411	broad.mit.edu	37	14	39650601	39650601	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr14:39650601G>C	ENST00000216832.4	+	9	1755	c.1688G>C	c.(1687-1689)aGa>aCa	p.R563T	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	563	Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGCAGAAGTAGAGGTCGAGCT	0.448																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(1687-1689)aGa>aCa		pinin, desmosome associated protein							112.0	114.0	113.0					14																	39650601		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650601G>C	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1688G>C	14.37:g.39650601G>C	ENSP00000216832:p.Arg563Thr					PNN_ENST00000557680.1_Intron	p.R563T	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	1755	+	Hepatocellular(127;0.213)		563			Ser-rich.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.1688G>C	CCDS9671.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663804	0.47572	.	.	ENSG00000100941	ENST00000216832	T	0.52983	0.64	6.16	6.16	0.99307	.	0.082446	0.85682	D	0.000000	T	0.66655	0.2811	M	0.83223	2.63	0.80722	D	1	D	0.63880	0.993	P	0.52109	0.69	T	0.69375	-0.5162	10	0.62326	D	0.03	-15.4145	20.8598	0.99761	0.0:0.0:1.0:0.0	.	563	Q9H307	PININ_HUMAN	T	563	ENSP00000216832:R563T	ENSP00000216832:R563T	R	+	2	0	PNN	38720352	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	2.937000	0.99478	0.650000	0.86243	AGA		0.448	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		12	51	0	0	0	1	0	12	51				
MSL2	55167	broad.mit.edu	37	3	135871452	135871452	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr3:135871452C>G	ENST00000309993.2	-	2	1003	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	MSL2_ENST00000434835.2_Missense_Mutation_p.E17Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	91	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TTGTTTTCCTCAAACTGCTCA	0.408																																						ENST00000309993.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(271-273)Gag>Cag		male-specific lethal 2 homolog (Drosophila)							235.0	215.0	222.0					3																	135871452		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135871452C>G	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.271G>C	3.37:g.135871452C>G	ENSP00000311827:p.Glu91Gln					MSL2_ENST00000434835.2_Missense_Mutation_p.E17Q	p.E91Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN			2	1003	-			91					B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.271G>C	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432262	0.25813	.	.	ENSG00000174579	ENST00000309993;ENST00000434835;ENST00000481989;ENST00000491050;ENST00000473093	.	.	.	6.17	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.35644	1.08	0.43622	D	0.996006	B	0.12630	0.006	B	0.11329	0.006	T	0.24693	-1.0153	9	0.19590	T	0.45	-8.5495	11.3873	0.49793	0.0:0.8059:0.1268:0.0673	.	91	Q9HCI7	MSL2_HUMAN	Q	91;17;17;17;17	.	ENSP00000311827:E91Q	E	-	1	0	MSL2	137354142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.938000	0.63519	0.933000	0.37291	0.655000	0.94253	GAG		0.408	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		37	110	0	0	0	1	0	37	110				
APBB1IP	54518	broad.mit.edu	37	10	26851329	26851329	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:26851329G>C	ENST00000376236.4	+	14	1899	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	482					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGTTCTCCAAGAGGCCCAGAG	0.478																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1444-1446)Gag>Cag		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							177.0	176.0	176.0					10																	26851329		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26851329G>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1444G>C	10.37:g.26851329G>C	ENSP00000365411:p.Glu482Gln					APBB1IP_ENST00000493857.1_3'UTR	p.E482Q	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			14	1899	+			482					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1444G>C	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449748	0.63290	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.34072	1.38	5.29	4.39	0.52855	.	0.599759	0.18727	N	0.132858	T	0.50990	0.1648	M	0.81682	2.555	0.80722	D	1	D	0.63880	0.993	P	0.52957	0.714	T	0.53373	-0.8448	10	0.45353	T	0.12	.	10.9446	0.47294	0.0879:0.0:0.9121:0.0	.	482	Q7Z5R6	AB1IP_HUMAN	Q	482	ENSP00000365411:E482Q	ENSP00000365411:E482Q	E	+	1	0	APBB1IP	26891335	0.996000	0.38824	0.050000	0.19076	0.007000	0.05969	5.288000	0.65651	1.236000	0.43740	0.557000	0.71058	GAG		0.478	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		35	105	0	0	0	1	0	35	105				
SRRM2	23524	broad.mit.edu	37	16	2815863	2815863	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr16:2815863G>C	ENST00000301740.8	+	11	5883	c.5334G>C	c.(5332-5334)agG>agC	p.R1778S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1778	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGCTCAAGGAGAGAGAAAA	0.582																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5332-5334)agG>agC		serine/arginine repetitive matrix 2							51.0	55.0	54.0					16																	2815863		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815863G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5334G>C	16.37:g.2815863G>C	ENSP00000301740:p.Arg1778Ser						p.R1778S	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	5883	+			1778			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5334G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	8.180	0.793543	0.16327	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.38240	1.15	5.46	-0.578	0.11724	.	0.000000	0.64402	D	0.000011	T	0.21103	0.0508	N	0.08118	0	0.27854	N	0.940654	D	0.58268	0.982	P	0.53006	0.715	T	0.21042	-1.0257	10	0.24483	T	0.36	-9.7578	5.0452	0.14480	0.0725:0.1149:0.4783:0.3343	.	1778	Q9UQ35	SRRM2_HUMAN	S	1778;1778;1030	ENSP00000301740:R1778S	ENSP00000301740:R1778S	R	+	3	2	SRRM2	2755864	0.179000	0.23135	0.995000	0.50966	0.996000	0.88848	-0.127000	0.10547	-0.052000	0.13311	0.650000	0.86243	AGG		0.582	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			13	33	0	0	0	1	0	13	33				
HIST2H2BF	440689	broad.mit.edu	37	1	149783657	149783657	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:149783657G>A	ENST00000369167.1	-	1	257	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_Silent_p.I74I|HIST2H2BF_ENST00000545683.1_Silent_p.I74I	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	74					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CCTCTCCCGCGATGCGCTCGA	0.642																																						ENST00000427880.2																			1	Substitution - coding silent(1)	p.I74I(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(220-222)atC>atT		histone cluster 2, H2bf							60.0	56.0	57.0					1																	149783657		2202	4277	6479	SO:0001819	synonymous_variant	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783657G>A	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.222C>T	1.37:g.149783657G>A						HIST2H2BF_ENST00000369167.1_Silent_p.I74I|HIST2H2BF_ENST00000545683.1_Silent_p.I74I|HIST2H2BF_ENST00000469483.1_5'UTR	p.I74I			Q5QNW6	H2B2F_HUMAN			1	268	-	Breast(34;0.0124)|all_hematologic(923;0.127)		74					A8K0U9|B4DLA9	Silent	SNP	ENST00000369167.1	37	c.222C>T	CCDS30846.1																																																																																				0.642	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		25	107	0	0	0	1	0	25	107				
MCU	90550	broad.mit.edu	37	10	74631162	74631162	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:74631162G>C	ENST00000373053.3	+	6	706	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	MCU_ENST00000357157.6_Missense_Mutation_p.E208Q|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000536019.1_Missense_Mutation_p.E180Q	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	229					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CAGAAAAGCTGAGAAGAGGAC	0.443																																						ENST00000536019.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(538-540)Gag>Cag		mitochondrial calcium uniporter							226.0	221.0	223.0					10																	74631162		2203	4300	6503	SO:0001583	missense	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74631162G>C	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.685G>C	10.37:g.74631162G>C	ENSP00000362144:p.Glu229Gln					MCU_ENST00000357157.6_Missense_Mutation_p.E208Q|MCU_ENST00000373053.3_Missense_Mutation_p.E229Q|MCU_ENST00000605416.1_3'UTR	p.E180Q	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN			6	983	+			229					B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	c.538G>C	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676638	0.88445	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.31247	1.5;1.5;1.5	5.91	4.99	0.66335	Coiled-coil domain containing protein 109, C-terminal (1);	0.043198	0.85682	N	0.000000	T	0.44008	0.1273	L	0.60067	1.865	0.80722	D	1	B;P;P	0.46064	0.376;0.73;0.872	B;B;P	0.50270	0.293;0.284;0.636	T	0.41963	-0.9479	10	0.59425	D	0.04	-16.1328	16.8854	0.86074	0.0:0.1283:0.8717:0.0	.	208;180;229	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	Q	229;208;180	ENSP00000362144:E229Q;ENSP00000349680:E208Q;ENSP00000440913:E180Q	ENSP00000349680:E208Q	E	+	1	0	MCU	74301168	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.801000	0.99128	1.448000	0.47680	0.650000	0.86243	GAG		0.443	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		35	125	0	0	0	1	0	35	125				
CDKN2A	1029	broad.mit.edu	37	9	21971153	21971153	+	Nonsense_Mutation	SNP	C	C	A	rs121913383		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr9:21971153C>A	ENST00000304494.5	-	2	475	c.205G>T	c.(205-207)Gag>Tag	p.E69*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G83V|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G83V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G124V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69			E -> G (found in some patients with melanoma; partial loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E69*(16)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E69K(1)|p.E61_L94del(1)|p.0(1)|p.E69fs*77(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.L64_E69>Q(1)|p.E69Q(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTTGGGCTCCGCGCCGTGG	0.711	E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS)	17																	1390	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(16)|Deletion - Frameshift(10)|Substitution - Missense(2)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E69*(16)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E69K(1)|p.E61_L94del(1)|p.0(1)|p.E69fs*77(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.L64_E69>Q(1)|p.E69Q(1)	haematopoietic_and_lymphoid_tissue(286)|skin(175)|central_nervous_system(167)|lung(153)|urinary_tract(91)|bone(74)|oesophagus(57)|soft_tissue(57)|upper_aerodigestive_tract(54)|pleura(51)|ovary(36)|pancreas(35)|kidney(32)|breast(32)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(205-207)Gag>Tag		cyclin-dependent kinase inhibitor 2A							8.0	10.0	9.0					9																	21971153		2147	4236	6383	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971153C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.205G>T	9.37:g.21971153C>A	ENSP00000307101:p.Glu69*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G83V|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G83V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G124V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E69*	p.E69*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	475	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	69		E -> G (found in some patients with melanoma; partial loss of CDK4 binding).|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.205G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.888184|5.888184	0.97068|0.97068	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|T;T	.|0.78246	.|-1.16;-1.09	5.79|5.79	3.97|3.97	0.46021|0.46021	.|.	.|0.859520	.|0.09600	.|N	.|0.780264	.|T	.|0.74412	.|0.3713	N|N	0.24115|0.24115	0.695|0.695	0.51482|0.51482	D|D	0.999929|0.999929	.|D	.|0.63880	.|0.993	.|P	.|0.52758	.|0.708	.|T	.|0.65857	.|-0.6066	.|10	0.66056|0.48119	D|T	0.02|0.1	-9.2069|-9.2069	9.9469|9.9469	0.41613|0.41613	0.0:0.7792:0.0:0.2208|0.0:0.7792:0.0:0.2208	.|.	.|124	.|Q8N726	.|CD2A2_HUMAN	X|V	69|124;83	.|ENSP00000355153:G124V;ENSP00000432664:G83V	ENSP00000307101:E69X|ENSP00000355153:G124V	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961153|21961153	0.978000|0.978000	0.34361|0.34361	0.219000|0.219000	0.23793|0.23793	0.464000|0.464000	0.32679|0.32679	2.592000|2.592000	0.46171|0.46171	0.809000|0.809000	0.34255|0.34255	-0.226000|-0.226000	0.12346|0.12346	GAG|GGA		0.711	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	6	1	0	0.000602214	1	0.000627307	5	6				
CDH9	1007	broad.mit.edu	37	5	26903762	26903762	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr5:26903762A>T	ENST00000231021.4	-	6	1155	c.983T>A	c.(982-984)aTt>aAt	p.I328N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GACAGTTATAATCCCTTCCTG	0.403																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(982-984)aTt>aAt		cadherin 9, type 2 (T1-cadherin)							241.0	219.0	226.0					5																	26903762		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903762A>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.983T>A	5.37:g.26903762A>T	ENSP00000231021:p.Ile328Asn						p.I328N	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1155	-			328			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.983T>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636620	0.87760	.	.	ENSG00000113100	ENST00000231021	T	0.38887	1.11	5.74	5.74	0.90152	Cadherin (5);Cadherin-like (1);	0.103112	0.64402	D	0.000004	T	0.64494	0.2603	M	0.81179	2.53	0.49130	D	0.999759	B	0.33583	0.418	P	0.53224	0.721	T	0.63088	-0.6715	9	.	.	.	.	15.2013	0.73139	1.0:0.0:0.0:0.0	.	328	Q9ULB4	CADH9_HUMAN	N	328	ENSP00000231021:I328N	.	I	-	2	0	CDH9	26939519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.200000	0.95010	2.323000	0.78572	0.529000	0.55759	ATT		0.403	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		63	117	0	0	0	1	0	63	117				
ABCB6	10058	broad.mit.edu	37	2	220078891	220078891	+	Silent	SNP	G	G	A	rs144749234		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:220078891G>A	ENST00000265316.3	-	8	1720	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ABCB6_ENST00000439002.2_Silent_p.A422A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	468	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTAACTCTCGGCGTTGTAAT	0.488																																						ENST00000265316.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1402-1404)gcC>gcT		ATP-binding cassette, sub-family B (MDR/TAP), member 6		G		1,4405	2.1+/-5.4	0,1,2202	139.0	129.0	132.0		1404	-10.7	0.0	2	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	ABCB6	NM_005689.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		468/843	220078891	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220078891G>A	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1404C>T	2.37:g.220078891G>A						ABCB6_ENST00000439002.2_Silent_p.A422A	p.A468A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1720	-		Renal(207;0.0474)	468			ABC transmembrane type-1.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Silent	SNP	ENST00000265316.3	37	c.1404C>T	CCDS2436.1	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199321	0.06219	2.27E-4	0.0	ENSG00000115657	ENST00000295750	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.31949	0.0813	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48681	-0.9014	4	.	.	.	-17.4727	1.3189	0.02112	0.3041:0.255:0.0822:0.3588	.	.	.	.	L	316	.	.	P	-	2	0	ABCB6	219787135	0.000000	0.05858	0.000000	0.03702	0.384000	0.30261	-3.828000	0.00356	-3.863000	0.00097	-0.423000	0.05987	CCG		0.488	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		15	74	0	0	0	1	0	15	74				
RPUSD2	27079	broad.mit.edu	37	15	40862066	40862066	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:40862066A>G	ENST00000315616.7	+	1	568	c.530A>G	c.(529-531)tAc>tGc	p.Y177C	RPUSD2_ENST00000559271.1_Intron	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	177					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CCCCTGGCCTACTATGAGGCC	0.622																																						ENST00000315616.7																			0				kidney(4)|lung(4)|skin(3)	11						c.(529-531)tAc>tGc		RNA pseudouridylate synthase domain containing 2							15.0	14.0	14.0					15																	40862066		2203	4300	6503	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40862066A>G	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.530A>G	15.37:g.40862066A>G	ENSP00000323288:p.Tyr177Cys					RPUSD2_ENST00000559271.1_Intron	p.Y177C	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	1	568	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	177					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.530A>G	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157356	0.78114	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.35973	1.28	5.93	4.78	0.61160	.	0.052600	0.85682	D	0.000000	T	0.63721	0.2535	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.68595	-0.5367	10	0.52906	T	0.07	-15.6489	12.4727	0.55795	0.7365:0.2635:0.0:0.0	.	177	Q8IZ73	RUSD2_HUMAN	C	177;156	ENSP00000323288:Y177C	ENSP00000323288:Y177C	Y	+	2	0	RPUSD2	38649358	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.762000	0.62250	1.026000	0.39733	0.533000	0.62120	TAC		0.622	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		4	6	0	0	0	1	0	4	6				
RAB3GAP1	22930	broad.mit.edu	37	2	135890465	135890465	+	Splice_Site	SNP	T	T	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:135890465T>C	ENST00000264158.8	+	14	1280	c.1237T>C	c.(1237-1239)Ttc>Ctc	p.F413L	RAB3GAP1_ENST00000539493.1_Splice_Site_p.F369L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Splice_Site_p.F413L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	413					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCCTTCAAGTTCTTATTCCC	0.294																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.e14-1		RAB3 GTPase activating protein subunit 1 (catalytic)							113.0	119.0	117.0					2																	135890465		2203	4295	6498	SO:0001630	splice_region_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135890465T>C	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1237-1T>C	2.37:g.135890465T>C						RAB3GAP1_ENST00000442034.1_Splice_Site_p.F413_splice|RAB3GAP1_ENST00000539493.1_Splice_Site_p.F369_splice|RAB3GAP1_ENST00000487003.1_3'UTR	p.F413_splice	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	14	1280	+			413					A6H8Z3|C9J837|Q659F5|Q8TBB4	Splice_Site	SNP	ENST00000264158.8	37	c.1236_splice	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.256166	0.59321	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.70282	-0.47;-0.47;-0.47	5.08	5.08	0.68730	.	0.102125	0.64402	D	0.000001	T	0.69620	0.3131	M	0.66939	2.045	0.54753	D	0.999985	B;B	0.25563	0.129;0.104	B;B	0.29716	0.106;0.079	T	0.66571	-0.5890	9	.	.	.	-6.7782	14.5357	0.67958	0.0:0.0:0.0:1.0	.	413;413	C9J837;Q15042	.;RB3GP_HUMAN	L	413;369;413	ENSP00000264158:F413L;ENSP00000444306:F369L;ENSP00000411418:F413L	.	F	+	1	0	RAB3GAP1	135606935	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.593000	0.67550	1.912000	0.55364	0.477000	0.44152	TTC		0.294	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	Missense_Mutation	10	26	0	0	0	1	0	10	26				
FN1	2335	broad.mit.edu	37	2	216272015	216272015	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:216272015C>T	ENST00000359671.1	-	18	2813	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	FN1_ENST00000336916.4_Missense_Mutation_p.E850K|FN1_ENST00000346544.3_Missense_Mutation_p.E850K|FN1_ENST00000357009.2_Missense_Mutation_p.E850K|FN1_ENST00000421182.1_Missense_Mutation_p.E850K|FN1_ENST00000345488.5_Missense_Mutation_p.E850K|FN1_ENST00000357867.4_Missense_Mutation_p.E850K|FN1_ENST00000446046.1_Missense_Mutation_p.E850K|FN1_ENST00000443816.1_Missense_Mutation_p.E850K|FN1_ENST00000323926.6_Missense_Mutation_p.E850K|FN1_ENST00000432072.2_Missense_Mutation_p.E850K|FN1_ENST00000356005.4_Missense_Mutation_p.E850K|FN1_ENST00000354785.4_Missense_Mutation_p.E850K			P02751	FINC_HUMAN	fibronectin 1	850	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGCTACCTTCTACTGATGGC	0.433																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(2548-2550)Gaa>Aaa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						203.0	190.0	194.0					2																	216272015		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216272015C>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2548G>A	2.37:g.216272015C>T	ENSP00000352696:p.Glu850Lys					FN1_ENST00000336916.4_Missense_Mutation_p.E850K|FN1_ENST00000323926.6_Missense_Mutation_p.E850K|FN1_ENST00000446046.1_Missense_Mutation_p.E850K|FN1_ENST00000432072.2_Missense_Mutation_p.E850K|FN1_ENST00000421182.1_Missense_Mutation_p.E850K|FN1_ENST00000443816.1_Missense_Mutation_p.E850K|FN1_ENST00000359671.1_Missense_Mutation_p.E850K|FN1_ENST00000357867.4_Missense_Mutation_p.E850K|FN1_ENST00000357009.2_Missense_Mutation_p.E850K|FN1_ENST00000356005.4_Missense_Mutation_p.E850K|FN1_ENST00000346544.3_Missense_Mutation_p.E850K|FN1_ENST00000345488.5_Missense_Mutation_p.E850K	p.E850K			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	18	2917	-		Renal(323;0.127)	850			Fibronectin type-III 3.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.2548G>A		.	.	.	.	.	.	.	.	.	.	C	17.00	3.275737	0.59649	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.37	4.48	0.54585	.	0.000000	0.64402	D	0.000004	T	0.67163	0.2864	L	0.53617	1.68	0.53005	D	0.999967	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.984;0.988;0.99;0.997;0.999;0.988;0.988;0.994	D;D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.917;0.992;0.996;0.99;0.998;0.99;0.992;0.992	T	0.69213	-0.5204	10	0.62326	D	0.03	.	14.4512	0.67386	0.0:0.9278:0.0:0.0722	.	850;850;850;850;850;850;850;850;850;850	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	K	850	ENSP00000394423:E850K;ENSP00000323534:E850K;ENSP00000338200:E850K;ENSP00000350534:E850K;ENSP00000346839:E850K;ENSP00000352696:E850K;ENSP00000265312:E850K;ENSP00000273049:E850K;ENSP00000349509:E850K;ENSP00000410422:E850K;ENSP00000415018:E850K;ENSP00000399538:E850K;ENSP00000348285:E850K	ENSP00000265313:E850K	E	-	1	0	FN1	215980260	1.000000	0.71417	0.942000	0.38095	0.077000	0.17291	7.487000	0.81328	2.496000	0.84212	0.655000	0.94253	GAA		0.433	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		22	60	0	0	0	1	0	22	60				
MBOAT7	79143	broad.mit.edu	37	19	54691101	54691101	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:54691101A>G	ENST00000245615.1	-	4	755	c.275T>C	c.(274-276)cTg>cCg	p.L92P	MBOAT7_ENST00000391754.1_Missense_Mutation_p.L92P|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron|MBOAT7_ENST00000474910.1_5'UTR	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	92					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCAGGCCCAGGAGGCTGAG	0.652																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(274-276)cTg>cCg		membrane bound O-acyltransferase domain containing 7							52.0	51.0	52.0					19																	54691101		2194	4297	6491	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54691101A>G	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.275T>C	19.37:g.54691101A>G	ENSP00000245615:p.Leu92Pro					MBOAT7_ENST00000391754.1_Missense_Mutation_p.L92P|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron	p.L92P	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN			4	755	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		92					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.275T>C	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.519694	0.64634	.	.	ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320	T;T;T	0.49432	2.12;1.38;0.78	3.89	2.84	0.33178	.	0.290015	0.32161	N	0.006497	T	0.54029	0.1833	L	0.42245	1.32	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.62014	0.897;0.897	T	0.53041	-0.8494	10	0.72032	D	0.01	-11.6055	9.5525	0.39319	0.822:0.178:0.0:0.0	.	74;92	B4DDH8;Q96N66	.;MBOA7_HUMAN	P	92;44;92;92;92	ENSP00000245615:L92P;ENSP00000375634:L92P;ENSP00000388250:L92P	ENSP00000245615:L92P	L	-	2	0	MBOAT7	59382913	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.547000	0.73892	0.485000	0.27652	0.529000	0.55759	CTG		0.652	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		3	5	0	0	0	1	0	3	5				
SORCS3	22986	broad.mit.edu	37	10	106937877	106937877	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:106937877C>T	ENST00000369701.3	+	14	2182	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	652					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTTCGGTTCCTCTCTTTGTT	0.478																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1954-1956)cCt>cTt		sortilin-related VPS10 domain containing receptor 3							233.0	200.0	211.0					10																	106937877		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937877C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1955C>T	10.37:g.106937877C>T	ENSP00000358715:p.Pro652Leu					SORCS3_ENST00000369699.4_Intron	p.P652L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2182	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	652					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1955C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333410	0.60853	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.22743	1.94;1.94	5.48	5.48	0.80851	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53961	-0.8364	9	.	.	.	.	18.1324	0.89605	0.0:1.0:0.0:0.0	.	652	Q9UPU3	SORC3_HUMAN	L	652;97	ENSP00000358715:P652L;ENSP00000376876:P97L	.	P	+	2	0	SORCS3	106927867	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.415000	0.66411	2.559000	0.86315	0.460000	0.39030	CCT		0.478	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		10	38	0	0	0	1	0	10	38				
HERC1	8925	broad.mit.edu	37	15	64067335	64067335	+	Missense_Mutation	SNP	C	C	A	rs375843350		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr15:64067335C>A	ENST00000443617.2	-	2	575	c.488G>T	c.(487-489)cGa>cTa	p.R163L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	163					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAGACCAGTTCGAACACCCAT	0.468																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(487-489)cGa>cTa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1		C	LEU/ARG	0,3914		0,0,1957	198.0	199.0	199.0		488	5.6	1.0	15		199	1,8291		0,1,4145	no	missense	HERC1	NM_003922.3	102	0,1,6102	AA,AC,CC		0.0121,0.0,0.0082	probably-damaging	163/4862	64067335	1,12205	1957	4146	6103	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067335C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.488G>T	15.37:g.64067335C>A	ENSP00000390158:p.Arg163Leu						p.R163L	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			2	575	-			163					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.488G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859193	0.91433	0.0	1.21E-4	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.00515	6.87	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000008	T	0.01489	0.0048	M	0.63843	1.955	0.58432	D	0.999997	D;D;P	0.60575	0.988;0.985;0.918	P;P;P	0.60173	0.829;0.87;0.451	T	0.68405	-0.5417	10	0.87932	D	0	.	19.7186	0.96134	0.0:1.0:0.0:0.0	.	163;163;163	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	L	163	ENSP00000390158:R163L	ENSP00000389613:R163L	R	-	2	0	HERC1	61854388	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.036000	0.70948	2.659000	0.90383	0.655000	0.94253	CGA		0.468	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		48	157	1	0	1.76056e-25	1	1.98933e-25	48	157				
AATK	9625	broad.mit.edu	37	17	79098605	79098605	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:79098605C>T	ENST00000326724.4	-	9	908	c.884G>A	c.(883-885)cGc>cAc	p.R295H	AATK_ENST00000417379.1_Missense_Mutation_p.R192H|MIR657_ENST00000385003.1_RNA|AATK_ENST00000572339.1_5'Flank|MIR338_ENST00000390137.2_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGCGATCCAGCGCAGAGGCAC	0.667																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(883-885)cGc>cAc		apoptosis-associated tyrosine kinase							35.0	42.0	40.0					17																	79098605		2169	4256	6425	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79098605C>T	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.884G>A	17.37:g.79098605C>T	ENSP00000324196:p.Arg295His					AATK_ENST00000417379.1_Missense_Mutation_p.R192H	p.R295H	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		9	908	-	all_neural(118;0.101)		295			Protein kinase.		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.884G>A	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.228962|5.228962	0.95173|0.95173	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724;ENST00000374792	.|D;D	.|0.83591	.|-1.74;-1.74	3.86|3.86	3.86|3.86	0.44501|0.44501	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91233|0.91233	0.7237|0.7237	M|M	0.85197|0.85197	2.74|2.74	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	D|D	0.92915|0.92915	0.6350|0.6350	5|10	.|0.87932	.|D	.|0	.|.	14.7321|14.7321	0.69388|0.69388	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|295	.|Q6ZMQ8	.|LMTK1_HUMAN	T|H	248|295	.|ENSP00000324196:R295H;ENSP00000363924:R295H	.|ENSP00000324196:R295H	A|R	-|-	1|2	0|0	AATK|AATK	76713200|76713200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	5.444000|5.444000	0.66587|0.66587	1.982000|1.982000	0.57802|0.57802	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.667	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		7	14	0	0	0	1	0	7	14				
TNFRSF1A	7132	broad.mit.edu	37	12	6438571	6438571	+	Silent	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:6438571G>C	ENST00000162749.2	-	10	1574	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L	TNFRSF1A_ENST00000540022.1_Silent_p.L382L|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	425	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCATGTCGCGGAGCACGCGTC	0.736																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(1273-1275)ctC>ctG		tumor necrosis factor receptor superfamily, member 1A							7.0	8.0	8.0					12																	6438571		2096	4068	6164	SO:0001819	synonymous_variant	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6438571G>C	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1275C>G	12.37:g.6438571G>C						TNFRSF1A_ENST00000540022.1_Silent_p.L382L	p.L425L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			10	1574	-			425			Death.		A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Silent	SNP	ENST00000162749.2	37	c.1275C>G	CCDS8542.1																																																																																				0.736	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		6	5	0	0	0	1	0	6	5				
DSC2	1824	broad.mit.edu	37	18	28672097	28672097	+	Missense_Mutation	SNP	C	C	G	rs140856220		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr18:28672097C>G	ENST00000280904.6	-	3	764	c.321G>C	c.(319-321)aaG>aaC	p.K107N	DSC2_ENST00000251081.6_Missense_Mutation_p.K107N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	107					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAATATTTTCTTCTTTTCTT	0.338																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(319-321)aaG>aaC		desmocollin 2							86.0	87.0	87.0					18																	28672097		2202	4297	6499	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28672097C>G	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.321G>C	18.37:g.28672097C>G	ENSP00000280904:p.Lys107Asn					DSC2_ENST00000251081.6_Missense_Mutation_p.K107N	p.K107N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	764	-			107						Missense_Mutation	SNP	ENST00000280904.6	37	c.321G>C	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474563	0.63737	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.61158	0.13;0.13	5.21	5.21	0.72293	Cadherin prodomain-like (1);Cadherin-like (1);	0.239799	0.21648	N	0.071224	T	0.73179	0.3554	M	0.75615	2.305	0.35013	D	0.757061	D;D	0.67145	0.996;0.995	D;D	0.72625	0.978;0.962	T	0.80011	-0.1561	10	0.52906	T	0.07	.	11.4042	0.49887	0.0:0.9153:0.0:0.0847	.	107;107	Q02487;Q02487-2	DSC2_HUMAN;.	N	107	ENSP00000251081:K107N;ENSP00000280904:K107N	ENSP00000251081:K107N	K	-	3	2	DSC2	26926095	0.832000	0.29368	0.287000	0.24848	0.969000	0.65631	1.323000	0.33701	2.607000	0.88179	0.455000	0.32223	AAG		0.338	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		7	44	0	0	0	1	0	7	44				
RYR1	6261	broad.mit.edu	37	19	39003117	39003117	+	Missense_Mutation	SNP	G	G	A	rs150230127		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr19:39003117G>A	ENST00000359596.3	+	63	9466	c.9466G>A	c.(9466-9468)Gtc>Atc	p.V3156I	RYR1_ENST00000355481.4_Missense_Mutation_p.V3156I|RYR1_ENST00000360985.3_Missense_Mutation_p.V3156I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3156					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGGAGATGACGTCATCCGTAA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17831	0.0		0.0	False		,,,				2504	0.0					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9466-9468)Gtc>Atc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	63.0	55.0	58.0		9466,9466	4.4	1.0	19	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	3156/5039,3156/5034	39003117	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39003117G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9466G>A	19.37:g.39003117G>A	ENSP00000352608:p.Val3156Ile					RYR1_ENST00000359596.3_Missense_Mutation_p.V3156I|RYR1_ENST00000360985.3_Missense_Mutation_p.V3156I	p.V3156I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		63	9597	+	all_cancers(60;7.91e-06)		3156					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9466G>A	CCDS33011.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.96	2.095381	0.36952	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96745	-4.11;-4.11;-4.11	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000014	D	0.93242	0.7847	L	0.36672	1.1	0.36202	D	0.850792	D;P;P	0.53151	0.958;0.824;0.73	B;B;B	0.42995	0.404;0.193;0.095	D	0.95407	0.8495	10	0.66056	D	0.02	.	13.0042	0.58694	0.0:0.0:0.8382:0.1618	.	3156;3156;3156	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	I	3156;3156;3156;76	ENSP00000352608:V3156I;ENSP00000347667:V3156I;ENSP00000354254:V3156I	ENSP00000347667:V3156I	V	+	1	0	RYR1	43694957	1.000000	0.71417	0.976000	0.42696	0.976000	0.68499	2.941000	0.49011	2.261000	0.74972	0.591000	0.81541	GTC		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			22	41	0	0	0	1	0	22	41				
NOS2	4843	broad.mit.edu	37	17	26091112	26091112	+	Silent	SNP	G	G	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:26091112G>A	ENST00000313735.6	-	21	2720	c.2487C>T	c.(2485-2487)acC>acT	p.T829T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	829	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCAGGAAGTAGGTGAGGGCCT	0.617																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(2485-2487)acC>acT		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						27.0	29.0	28.0					17																	26091112		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26091112G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2487C>T	17.37:g.26091112G>A							p.T829T	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			21	2720	-			829			FAD-binding FR-type.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.2487C>T	CCDS11223.1																																																																																				0.617	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		3	19	0	0	0	1	0	3	19				
LRRC37A6P	387646	broad.mit.edu	37	10	27538843	27538843	+	lincRNA	SNP	G	G	T			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr10:27538843G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTCTCAGCTGGGGCCTCCTGC	0.512																																						ENST00000574842.1																			0																				44.0	37.0	39.0					10																	27538843		692	1591	2283			387646							g.chr10:27538843G>T																													10.37:g.27538843G>T						LRRC37A6P_ENST00000284414.4_RNA								0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.512	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			40	80	1	0	2.32173e-10	1	2.52362e-10	40	80				
COQ5	84274	broad.mit.edu	37	12	120941680	120941680	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:120941680G>C	ENST00000288532.6	-	7	931	c.891C>G	c.(889-891)ttC>ttG	p.F297L	Y_RNA_ENST00000410669.1_RNA|COQ5_ENST00000445328.2_Missense_Mutation_p.F223L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	297					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGTCCTTGAACTCTTCCT	0.413																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(889-891)ttC>ttG		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							112.0	104.0	107.0					12																	120941680		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120941680G>C	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.891C>G	12.37:g.120941680G>C	ENSP00000288532:p.Phe297Leu					COQ5_ENST00000445328.2_Missense_Mutation_p.F223L	p.F297L	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			7	931	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		297					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.891C>G	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053559	0.75960	.	.	ENSG00000110871	ENST00000288532;ENST00000445328	T;T	0.58652	0.32;0.32	5.76	4.88	0.63580	.	0.043130	0.85682	D	0.000000	T	0.50326	0.1609	N	0.17564	0.495	0.80722	D	1	P;P	0.49447	0.924;0.566	P;P	0.57057	0.812;0.533	T	0.44742	-0.9308	10	0.18710	T	0.47	.	7.6787	0.28500	0.1472:0.146:0.7067:0.0	.	223;297	B4DP72;Q5HYK3	.;COQ5_HUMAN	L	297;223	ENSP00000288532:F297L;ENSP00000401798:F223L	ENSP00000288532:F297L	F	-	3	2	COQ5	119426063	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.750000	0.55157	1.452000	0.47756	0.644000	0.83932	TTC		0.413	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		23	58	0	0	0	1	0	23	58				
IKZF3	22806	broad.mit.edu	37	17	37922071	37922071	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:37922071C>G	ENST00000346872.3	-	8	1563	c.1502G>C	c.(1501-1503)aGa>aCa	p.R501T	IKZF3_ENST00000346243.3_Missense_Mutation_p.R423T|IKZF3_ENST00000377952.2_Missense_Mutation_p.R280T|IKZF3_ENST00000394189.2_Missense_Mutation_p.R319T|IKZF3_ENST00000439016.2_Missense_Mutation_p.R406T|IKZF3_ENST00000377958.2_Missense_Mutation_p.R414T|IKZF3_ENST00000377945.3_Missense_Mutation_p.R367T|IKZF3_ENST00000377944.3_Missense_Mutation_p.R358T|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000467757.1_Missense_Mutation_p.R445T|IKZF3_ENST00000535189.1_Missense_Mutation_p.R467T|IKZF3_ENST00000351680.3_Missense_Mutation_p.R462T|IKZF3_ENST00000583368.1_Missense_Mutation_p.R254T|IKZF3_ENST00000350532.3_Missense_Mutation_p.R462T|IKZF3_ENST00000439167.2_Missense_Mutation_p.R428T	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	501					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGTTCTCCTCTGGCTATGTG	0.483																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1501-1503)aGa>aCa		IKAROS family zinc finger 3 (Aiolos)							103.0	99.0	100.0					17																	37922071		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922071C>G	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1502G>C	17.37:g.37922071C>G	ENSP00000344544:p.Arg501Thr					IKZF3_ENST00000583368.1_Missense_Mutation_p.R254T|IKZF3_ENST00000535189.1_Missense_Mutation_p.R467T|IKZF3_ENST00000467757.1_Missense_Mutation_p.R445T|IKZF3_ENST00000439167.2_Missense_Mutation_p.R428T|IKZF3_ENST00000439016.2_Missense_Mutation_p.R406T|IKZF3_ENST00000394189.2_Missense_Mutation_p.R319T|IKZF3_ENST00000377944.3_Missense_Mutation_p.R358T|IKZF3_ENST00000377945.3_Missense_Mutation_p.R367T|IKZF3_ENST00000377952.2_Missense_Mutation_p.R280T|IKZF3_ENST00000377958.2_Missense_Mutation_p.R414T|IKZF3_ENST00000350532.3_Missense_Mutation_p.R462T|IKZF3_ENST00000346243.3_Missense_Mutation_p.R423T|IKZF3_ENST00000351680.3_Missense_Mutation_p.R462T	p.R501T	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1563	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		501					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.1502G>C	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.706384|4.706384	0.89018|0.89018	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Zinc finger, C2H2-like (1);	.|0.000000	.|0.53938	.|D	.|0.000041	T|T	0.44095|0.44095	0.1277|0.1277	N|N	0.11892|0.11892	0.195|0.195	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.997;1.0;1.0;1.0;1.0;1.0;0.995;1.0;1.0;1.0;0.997;0.997;0.999	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97110	.|0.995;0.997;0.997;0.997;0.998;1.0;0.995;0.997;1.0;1.0;0.995;0.995;0.998	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.02654	.|T	.|1	-14.9578|-14.9578	19.392|19.392	0.94587|0.94587	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|414;280;319;367;358;467;423;406;462;445;462;428;501	.|Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	Q|T	416;455|501;406;367;319;358;414;280;467;462;423;462;445	.|ENSP00000367180:R367T;ENSP00000377741:R319T;ENSP00000367179:R358T;ENSP00000367194:R414T;ENSP00000367188:R280T;ENSP00000438972:R467T;ENSP00000345622:R462T;ENSP00000341977:R423T;ENSP00000344471:R462T;ENSP00000420463:R445T	.|ENSP00000341977:R423T	E|R	-|-	1|2	0|0	IKZF3|IKZF3	35175597|35175597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.580000|2.580000	0.87095|0.87095	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.483	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		19	83	0	0	0	1	0	19	83				
OLFM3	118427	broad.mit.edu	37	1	102296381	102296381	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr1:102296381delA	ENST00000338858.5	-	3	278	c.279delT	c.(277-279)gttfs	p.V93fs	OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000370103.4_Frame_Shift_Del_p.V73fs|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Frame_Shift_Del_p.V93fs			Q96PB7	NOE3_HUMAN	olfactomedin 3	93					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACATGTTCTGAACCTGTTGAA	0.343																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(217-219)gtfs		olfactomedin 3							87.0	88.0	88.0					1																	102296381		2203	4300	6503	SO:0001589	frameshift_variant	118427					extracellular region		g.chr1:102296381delA	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.279delT	1.37:g.102296381delA	ENSP00000345192:p.Val93fs					OLFM3_ENST00000359814.3_Frame_Shift_Del_p.V93fs|OLFM3_ENST00000338858.5_Frame_Shift_Del_p.V93fs|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR	p.V73fs	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	3	432	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	93					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Frame_Shift_Del	DEL	ENST00000338858.5	37	c.219delT																																																																																					0.343	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			17	65						17	65	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227895306	227895318	+	Splice_Site	DEL	CAGGTGCTCCTGA	CAGGTGCTCCTGA	-			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr2:227895306_227895318delCAGGTGCTCCTGA	ENST00000396625.3	-	41	4025_4033	c.3818_3826delTCAGGAGCACCTG	c.(3817-3828)gtcaggagcacc>gcc	p.VRST1273fs	COL4A4_ENST00000329662.7_Splice_Site_p.VRST1273fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1273	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|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(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGAGGCCCAGGTGCTCCTGACCACAGAGAA	0.54																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.e41-1		collagen, type IV, alpha 4																																				SO:0001630	splice_region_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227895306_227895318delCAGGTGCTCCTGA		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3818-1TCAGGAGCACCTG>-	2.37:g.227895306_227895318delCAGGTGCTCCTGA						COL4A4_ENST00000329662.7_Splice_Site_p.A1273_splice	p.A1273_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	41	4025_4033	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1273			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Splice_Site	DEL	ENST00000396625.3	37	c.3817_splice	CCDS42828.1																																																																																				0.540	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	Frame_Shift_Del	9	31						9	31	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187628651	187628652	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr4:187628651_187628652insA	ENST00000441802.2	-	2	2539_2540	c.2330_2331insT	c.(2329-2331)ttafs	p.L777fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	777	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAAGAGGAGATAAAATTTTCAG	0.436										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2329-2331)ttcfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628651_187628652insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2331dupT	4.37:g.187628655_187628655dupA	ENSP00000406229:p.Leu777fs	HNSCC(5;0.00058)					p.F777fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	2539_2540	-			777			Cadherin 6.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.2330_2331insT	CCDS47177.1																																																																																				0.436	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		31	72						31	72	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53447799	53447802	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:53447799_53447802delGTAA	ENST00000314250.6	+	6	640		c.e6+1		TENC1_ENST00000546602.1_Splice_Site|TENC1_ENST00000552570.1_Splice_Site|TENC1_ENST00000314276.3_Splice_Site|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000379902.3_Splice_Site|TENC1_ENST00000549700.1_Splice_Site|TENC1_ENST00000451358.1_Splice_Site|RP11-983P16.4_ENST00000551890.1_RNA	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTCTGCCCAGGTAAGTGAGGGTGC	0.627											OREG0021855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.e6+1		tensin like C1 domain containing phosphatase (tensin 2)																																				SO:0001630	splice_region_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53447799_53447802delGTAA	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.350+1GTAA>-	12.37:g.53447799_53447802delGTAA			OREG0021855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992	RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000552570.1_Splice_Site|RP11-983P16.4_ENST00000551890.1_RNA|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Splice_Site|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000379902.3_Splice_Site|TENC1_ENST00000549700.1_Splice_Site|TENC1_ENST00000314276.3_Splice_Site		NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			6	640	+								A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Splice_Site	DEL	ENST00000314250.6	37		CCDS8843.1																																																																																				0.627	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754	Intron	11	31						11	31	---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58145293	58145294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr12:58145293_58145294insG	ENST00000257904.6	-	2	572_573	c.207_208insC	c.(205-210)cccaatfs	p.N70fs	CDK4_ENST00000312990.6_Frame_Shift_Ins_p.N70fs|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CGGACAACATTGGGATGCTCAA	0.564			Mis			melanoma			Hereditary Melanoma																													ENST00000257904.6			yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21						c.(205-210)ccatgtfs		cyclin-dependent kinase 4																																				SO:0001589	frameshift_variant	1019	Hereditary Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58145293_58145294insG	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.208dupC	12.37:g.58145296_58145296dupG	ENSP00000257904:p.Asn70fs					CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_Frame_Shift_Ins_p.C70fs	p.C70fs	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		2	572_573	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		70			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Frame_Shift_Ins	INS	ENST00000257904.6	37	c.207_208insC	CCDS8953.1																																																																																				0.564	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		26	69						26	69	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7572959	7572962	+	Frame_Shift_Del	DEL	TGAG	TGAG	-	rs150842067|rs373710656		TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr17:7572959_7572962delTGAG	ENST00000269305.4	-	11	1336_1339	c.1147_1150delCTCA	c.(1147-1152)ctcatgfs	p.LM383fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.LM383fs	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	383	Basic (repression of DNA-binding).|Interaction with CARM1.				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.0?(8)|p.?(1)|p.L383F(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)	GTCTTGAACATGAGTTTTTTATGG	0.529		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)	ENST00000269305.4		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"""		10	Whole gene deletion(8)|Substitution - Missense(1)|Unknown(1)	p.0?(8)|p.?(1)|p.L383F(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|urinary_tract(1)|stomach(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						c.(1147-1152)tgfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7572959_7572962delTGAG	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.1147_1150delCTCA	17.37:g.7572959_7572962delTGAG	ENSP00000269305:p.Leu383fs	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_ENST00000445888.2_Frame_Shift_Del_p.LM383fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron	p.LM383fs	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	11	1336_1339	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	383			Basic (repression of DNA-binding).|Interaction with CARM1.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1147_1150delCTCA	CCDS11118.1																																																																																				0.529	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	130						22	130	---	---	---	---
CTBP2P3	220147	broad.mit.edu	37	18	58330742	58330742	+	lincRNA	DEL	C	C	-			TCGA-CQ-A4CD-01A-21D-A25D-08	TCGA-CQ-A4CD-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c269ecd1-5a4e-43a7-a658-970a52ca8776	9efb8636-73b0-41db-92ef-e70e1bf83e44	g.chr18:58330742delC	ENST00000591869.1	-	0	228																											CCAGGCATGGCCAGAAGGCAC	0.612																																						ENST00000591869.1																			0																																																			220147							g.chr18:58330742delC																													18.37:g.58330742delC														0	228	-									RNA	DEL	ENST00000591869.1	37																																																																																						0.612	RP11-325K19.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449086.1			2	4						2	4	---	---	---	---
