#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
FAT4	79633	broad.mit.edu	37	4	126372407	126372407	+	Missense_Mutation	SNP	G	G	C	rs371194603		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr4:126372407G>C	ENST00000394329.3	+	9	10249	c.10236G>C	c.(10234-10236)caG>caC	p.Q3412H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3412	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGTGTGCAGATCAGTGAAG	0.463																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10234-10236)caG>caC		FAT atypical cadherin 4		G	HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	166.0	160.0	162.0		10236	3.3	1.0	4		162	0,8600		0,0,4300	no	missense	FAT4	NM_024582.4	24	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	3412/4982	126372407	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372407G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10236G>C	4.37:g.126372407G>C	ENSP00000377862:p.Gln3412His					FAT4_ENST00000335110.5_Missense_Mutation_p.Q1710H	p.Q3412H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10249	+			3412			Cadherin 33.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10236G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752441	0.31046	2.27E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.14	3.27	0.37495	Cadherin (3);Cadherin-like (1);	0.000000	0.32819	U	0.005604	T	0.03959	0.0111	L	0.28192	0.835	0.44789	D	0.997796	P;D;D	0.71674	0.828;0.998;0.998	P;D;D	0.83275	0.576;0.996;0.994	T	0.57057	-0.7876	10	0.46703	T	0.11	.	7.2205	0.25983	0.203:0.1332:0.6638:0.0	.	1710;3412;3412	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	3412;1710	ENSP00000377862:Q3412H;ENSP00000335169:Q1710H	ENSP00000335169:Q1710H	Q	+	3	2	FAT4	126591857	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	1.305000	0.33493	1.138000	0.42230	0.561000	0.74099	CAG		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		83	90	0	0	0	1	0	83	90				
ITGBL1	9358	broad.mit.edu	37	13	102235598	102235598	+	Missense_Mutation	SNP	G	G	A	rs267603743		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr13:102235598G>A	ENST00000376180.3	+	6	979	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ITGBL1_ENST00000545560.2_Missense_Mutation_p.D113N|ITGBL1_ENST00000376162.3_Missense_Mutation_p.D161N	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	254	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTGTCACGATGTTGATCC	0.428																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(760-762)Gat>Aat		integrin, beta-like 1 (with EGF-like repeat domains)							252.0	236.0	241.0					13																	102235598		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102235598G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.760G>A	13.37:g.102235598G>A	ENSP00000365351:p.Asp254Asn					ITGBL1_ENST00000376162.3_Missense_Mutation_p.D161N|ITGBL1_ENST00000545560.2_Missense_Mutation_p.D113N	p.D254N	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			6	979	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		254			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.760G>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910882	0.92178	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92752	-3.1;-3.1;-3.1	5.25	5.25	0.73442	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	N	0.25890	0.77	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.68192	0.956;0.932	D	0.92823	0.6274	10	0.41790	T	0.15	.	18.8235	0.92106	0.0:0.0:1.0:0.0	.	113;254	B3KTP1;O95965	.;ITGBL_HUMAN	N	254;162;113;113;161	ENSP00000365351:D254N;ENSP00000439903:D113N;ENSP00000365332:D161N	ENSP00000365332:D161N	D	+	1	0	ITGBL1	101033599	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	9.284000	0.95882	2.620000	0.88729	0.591000	0.81541	GAT		0.428	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		6	206	0	0	0	1	0	6	206				
ANKAR	150709	broad.mit.edu	37	2	190554683	190554683	+	Silent	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr2:190554683T>C	ENST00000520309.1	+	3	1120	c.1032T>C	c.(1030-1032)ccT>ccC	p.P344P	ANKAR_ENST00000438402.2_Silent_p.P344P|ANKAR_ENST00000281412.6_Silent_p.P108P|ANKAR_ENST00000313581.4_Silent_p.P344P|ANKAR_ENST00000431575.2_Silent_p.P273P|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	344						integral component of membrane (GO:0016021)		p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCTTCAGCCTTTTTCAGGTA	0.289																																						ENST00000520309.1																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)	lung(4)	breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1030-1032)ccT>ccC		ankyrin and armadillo repeat containing							39.0	44.0	42.0					2																	190554683		2064	4223	6287	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190554683T>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1032T>C	2.37:g.190554683T>C						ANKAR_ENST00000281412.6_Silent_p.P108P|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Silent_p.P273P|ANKAR_ENST00000313581.4_Silent_p.P344P|ANKAR_ENST00000438402.2_Silent_p.P344P	p.P344P	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	1120	+			344					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.1032T>C	CCDS33351.2																																																																																				0.289	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		3	71	0	0	0	1	0	3	71				
MUC17	140453	broad.mit.edu	37	7	100683689	100683689	+	Missense_Mutation	SNP	C	C	T	rs540856466	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr7:100683689C>T	ENST00000306151.4	+	3	9056	c.8992C>T	c.(8992-8994)Ccg>Tcg	p.P2998S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGCCAG	0.507													C|||	2	0.000399361	0.0	0.0029	5008	,	,		25028	0.0		0.0	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8992-8994)Ccg>Tcg		mucin 17, cell surface associated							250.0	262.0	258.0					7																	100683689		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683689C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8992C>T	7.37:g.100683689C>T	ENSP00000302716:p.Pro2998Ser						p.P2998S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9056	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2998			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8992C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021399	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	.	.	.	.	.	.	.	.	T	0.05686	0.0149	N	0.17082	0.46	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.06935	-1.0799	7	0.09084	T	0.74	.	.	.	.	.	2998	Q685J3	MUC17_HUMAN	S	2998	ENSP00000302716:P2998S	ENSP00000302716:P2998S	P	+	1	0	MUC17	100470409	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.091000	0.00297	-1.495000	0.01831	-1.492000	0.00969	CCG		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	572	0	0	0	1	0	5	572				
DBH	1621	broad.mit.edu	37	9	136513016	136513016	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr9:136513016G>A	ENST00000393056.2	+	6	1085	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	358					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCCAAGCTGCGGCGCTTCAAC	0.607																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1072-1074)cGg>cAg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						113.0	86.0	95.0					9																	136513016		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136513016G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1073G>A	9.37:g.136513016G>A	ENSP00000376776:p.Arg358Gln						p.R358Q	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	6	1085	+			358					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.1073G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044620	0.75732	.	.	ENSG00000123454	ENST00000393056	T	0.67523	-0.27	4.95	4.95	0.65309	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (2);	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.89456	0.3733	10	0.87932	D	0	-25.9727	18.1753	0.89759	0.0:0.0:1.0:0.0	.	358	P09172	DOPO_HUMAN	Q	358	ENSP00000376776:R358Q	ENSP00000376776:R358Q	R	+	2	0	DBH	135502837	1.000000	0.71417	0.851000	0.33527	0.101000	0.19017	9.071000	0.93980	2.274000	0.75844	0.561000	0.74099	CGG		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		21	33	0	0	0	1	0	21	33				
MST1L	11223	broad.mit.edu	37	1	17083776	17083776	+	RNA	SNP	C	C	A	rs56318124	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:17083776C>A	ENST00000455405.2	-	0	812							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R674L(1)									CACAGAGACACGCGTGAAGAC	0.537																																						ENST00000455405.2																			1	Substitution - Missense(1)	p.R674L(1)	endometrium(1)																																																0							g.chr1:17083776C>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083776C>A														0	812	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	14.57	2.575742	0.45902	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42172	D	0.000756	T	0.66197	0.2765	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72117	-0.4387	6	0.87932	D	0	.	6.7402	0.23431	0.0:0.9998:0.0:2.0E-4	rs56318124	674;700	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	L	674;700	.	ENSP00000439273:R674L	R	-	2	0	MST1P9	16956363	1.000000	0.71417	0.897000	0.35233	0.000000	0.00434	4.748000	0.62148	0.502000	0.28037	0.000000	0.15137	CGT		0.537	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	26	1	0	3.86212e-05	1	4.01976e-05	5	26				
EPPK1	83481	broad.mit.edu	37	8	144940744	144940744	+	Silent	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:144940744G>A	ENST00000525985.1	-	2	6749	c.6678C>T	c.(6676-6678)atC>atT	p.I2226I				P58107	EPIPL_HUMAN	epiplakin 1	2226						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACGCCCGCGATGCAGCTGG	0.682																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6676-6678)atC>atT		epiplakin 1							82.0	86.0	85.0					8																	144940744		2137	4224	6361	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940744G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6678C>T	8.37:g.144940744G>A							p.I2226I			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6749	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2226					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6678C>T																																																																																					0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	147	0	0	0	1	0	5	147				
FLT1	2321	broad.mit.edu	37	13	29012395	29012395	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr13:29012395C>T	ENST00000282397.4	-	4	727	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	FLT1_ENST00000539099.1_Missense_Mutation_p.R159Q|FLT1_ENST00000541932.1_Missense_Mutation_p.R159Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	159	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGTAACCCGGCAGGGAAT	0.398																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(475-477)cGg>cAg		fms-related tyrosine kinase 1	Sunitinib(DB01268)						122.0	106.0	111.0					13																	29012395		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29012395C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.476G>A	13.37:g.29012395C>T	ENSP00000282397:p.Arg159Gln					FLT1_ENST00000541932.1_Missense_Mutation_p.R159Q|FLT1_ENST00000539099.1_Missense_Mutation_p.R159Q	p.R159Q	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	4	727	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	159			Ig-like C2-type 2.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.476G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417593	0.96092	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.53857	0.6;0.6;0.6	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.74389	2.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.67845	-0.5565	10	0.30078	T	0.28	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	159;159;159;159	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	Q	159	ENSP00000282397:R159Q;ENSP00000437631:R159Q;ENSP00000442630:R159Q	ENSP00000282397:R159Q	R	-	2	0	FLT1	27910395	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	6.827000	0.75303	2.861000	0.98227	0.655000	0.94253	CGG		0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			19	33	0	0	0	1	0	19	33				
ILDR1	286676	broad.mit.edu	37	3	121724129	121724129	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr3:121724129C>T	ENST00000344209.5	-	3	467	c.341G>A	c.(340-342)gGg>gAg	p.G114E	ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000273691.3_Missense_Mutation_p.G114E	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	114	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTAATCTACCCCCAGCACGGG	0.642																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(340-342)gGg>gAg		immunoglobulin-like domain containing receptor 1							39.0	39.0	39.0					3																	121724129		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121724129C>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.341G>A	3.37:g.121724129C>T	ENSP00000345667:p.Gly114Glu					ILDR1_ENST00000344209.5_Missense_Mutation_p.G114E|ILDR1_ENST00000462014.1_Missense_Mutation_p.G126E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.G114E	p.G114E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	446	-			114			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.341G>A	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629436	0.87660	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.77501	-0.2564	10	0.87932	D	0	-37.0567	17.5361	0.87832	0.0:1.0:0.0:0.0	.	114;114;114;126	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	E	114;114;114;126	ENSP00000273691:G114E;ENSP00000345667:G114E;ENSP00000377251:G114E;ENSP00000419414:G126E	ENSP00000273691:G114E	G	-	2	0	ILDR1	123206819	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.442000	0.80503	2.802000	0.96397	0.563000	0.77884	GGG		0.642	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		3	32	0	0	0	1	0	3	32				
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																						ENST00000417404.1																			0																																																			0							g.chr17:28961033T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1291	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		3	43	0	0	0	1	0	3	43				
CAPN3	825	broad.mit.edu	37	15	42681285	42681285	+	Silent	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:42681285C>T	ENST00000397163.3	+	5	1011	c.792C>T	c.(790-792)tgC>tgT	p.C264C	CAPN3_ENST00000357568.3_Silent_p.C264C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000349748.3_Silent_p.C264C|CAPN3_ENST00000318023.7_Silent_p.C264C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	264	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCATGGGCTGCTCCATTGATG	0.527																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(790-792)tgC>tgT		calpain 3, (p94)							82.0	82.0	82.0					15																	42681285		2203	4299	6502	SO:0001819	synonymous_variant	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681285C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.792C>T	15.37:g.42681285C>T						CAPN3_ENST00000357568.3_Silent_p.C264C|CAPN3_ENST00000356316.3_Silent_p.C177C|CAPN3_ENST00000349748.3_Silent_p.C264C|CAPN3_ENST00000318023.7_Silent_p.C264C|RP11-164J13.1_ENST00000495723.1_RNA	p.C264C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	1011	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	264			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Silent	SNP	ENST00000397163.3	37	c.792C>T	CCDS45245.1																																																																																				0.527	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			24	65	0	0	0	1	0	24	65				
RNF34	80196	broad.mit.edu	37	12	121855706	121855706	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr12:121855706C>T	ENST00000392464.2	+	3	694	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Missense_Mutation_p.P210S|RNF34_ENST00000361234.5_Missense_Mutation_p.P209S					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		ATCTGGAGTGCCGGCACAGGT	0.493																																						ENST00000361234.5																			0				breast(1)|large_intestine(1)	2						c.(625-627)Ccg>Tcg		ring finger protein 34, E3 ubiquitin protein ligase							98.0	112.0	107.0					12																	121855706		2203	4300	6503	SO:0001583	missense	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855706C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.625C>T	12.37:g.121855706C>T	ENSP00000376257:p.Pro209Ser					RNF34_ENST00000392465.3_Missense_Mutation_p.P210S|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Missense_Mutation_p.P209S	p.P209S	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	797	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		209						Missense_Mutation	SNP	ENST00000392464.2	37	c.625C>T		.	.	.	.	.	.	.	.	.	.	C	9.630	1.136128	0.21123	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000392464;ENST00000354795	T;T;T	0.30448	2.48;2.48;1.53	6.17	3.41	0.39046	.	0.701408	0.14556	N	0.312366	T	0.17959	0.0431	N	0.19112	0.55	0.49213	D	0.999766	B;B	0.18863	0.03;0.031	B;B	0.22601	0.029;0.04	T	0.04103	-1.0977	10	0.07990	T	0.79	-15.2453	10.0598	0.42268	0.0:0.7965:0.0:0.2035	.	209;210	Q969K3;Q969K3-2	RNF34_HUMAN;.	S	209;210;209;210	ENSP00000355137:P209S;ENSP00000376258:P210S;ENSP00000376257:P209S	ENSP00000346850:P210S	P	+	1	0	RNF34	120340089	0.132000	0.22450	0.428000	0.26697	0.257000	0.26127	0.552000	0.23376	0.496000	0.27904	0.655000	0.94253	CCG		0.493	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		4	223	0	0	0	1	0	4	223				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	40	0	0	0	1	0	4	40				
ATP2B3	492	broad.mit.edu	37	X	152815041	152815041	+	Silent	SNP	G	G	A	rs373112886		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chrX:152815041G>A	ENST00000349466.2	+	10	1751	c.1425G>A	c.(1423-1425)acG>acA	p.T475T	ATP2B3_ENST00000393842.1_Silent_p.T461T|ATP2B3_ENST00000359149.3_Silent_p.T475T|ATP2B3_ENST00000263519.4_Silent_p.T475T|ATP2B3_ENST00000370186.1_Silent_p.T461T|ATP2B3_ENST00000370181.2_Silent_p.T461T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	475					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.G476C(3)|p.G462C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGACAAGACGGGCACGCTCA	0.592																																						ENST00000370186.1																			4	Substitution - Missense(4)	p.G476C(3)|p.G462C(1)	lung(4)	NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1381-1383)acG>acA		ATPase, Ca++ transporting, plasma membrane 3		A	,	1,3834		0,0,1,1632,570	180.0	138.0	152.0		1425,1425	-4.8	0.9	X		152	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	ATP2B3	NM_001001344.2,NM_021949.3	,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	,	475/1221,475/1174	152815041	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815041G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1425G>A	X.37:g.152815041G>A						ATP2B3_ENST00000393842.1_Silent_p.T461T|ATP2B3_ENST00000370181.2_Silent_p.T461T|ATP2B3_ENST00000359149.3_Silent_p.T475T|ATP2B3_ENST00000263519.4_Silent_p.T475T|ATP2B3_ENST00000349466.2_Silent_p.T475T	p.T461T			Q16720	AT2B3_HUMAN			9	1709	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		475					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1383G>A	CCDS35440.1																																																																																				0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		75	6	0	0	0	1	0	75	6				
TRGV5	6978	broad.mit.edu	37	7	38389495	38389495	+	RNA	SNP	C	C	A	rs2012300	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr7:38389495C>A	ENST00000390344.2	-	0	128									T cell receptor gamma variable 5																		CTTAAAACTCCGGCCCCACTC	0.542													A|||	752	0.15016	0.1755	0.2435	5008	,	,		15107	0.0794		0.1481	False		,,,				2504	0.1247					ENST00000390344.2																			0																				42.0	43.0	43.0					7																	38389495		689	1570	2259			0							g.chr7:38389495C>A	M36286		7p14	2012-02-07				ENSG00000211697		"""T cell receptors / TRG locus"""	12290	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V5"""			TCRGV5		2902186, 2969332	Standard	NG_001336		Approved	V1S5			OTTHUMG00000155101		7.37:g.38389495C>A														0	128	-									RNA	SNP	ENST00000390344.2	37																																																																																						0.542	TRGV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338407.4	NG_001336		3	28	1	0	2.56e-06	1	2.83826e-06	3	28				
GPR124	25960	broad.mit.edu	37	8	37693177	37693177	+	Missense_Mutation	SNP	G	G	A	rs151148392	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:37693177G>A	ENST00000412232.2	+	13	1952	c.1939G>A	c.(1939-1941)Gtc>Atc	p.V647I	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	647					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCAACTGCTCGTCTTCCGAAA	0.677													G|||	2	0.000399361	0.0	0.0014	5008	,	,		11791	0.0		0.001	False		,,,				2504	0.0					ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1939-1941)Gtc>Atc		G protein-coupled receptor 124		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	74.0	81.0	79.0		1939	2.5	1.0	8	dbSNP_134	79	12,8588	9.1+/-34.3	0,12,4288	yes	missense	GPR124	NM_032777.9	29	0,14,6489	AA,AG,GG		0.1395,0.0454,0.1076	benign	647/1339	37693177	14,12992	2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693177G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1939G>A	8.37:g.37693177G>A	ENSP00000406367:p.Val647Ile					GPR124_ENST00000315215.7_Intron	p.V647I	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1952	+			647					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1939G>A	CCDS6097.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.41	3.114314	0.56505	4.54E-4	0.001395	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.58358	0.34	5.29	2.53	0.30540	.	0.488989	0.21014	N	0.081629	T	0.40815	0.1132	L	0.46157	1.445	0.35319	D	0.78459	B	0.13594	0.008	B	0.06405	0.002	T	0.39354	-0.9618	10	0.13108	T	0.6	-24.6791	10.4567	0.44555	0.2129:0.0:0.7871:0.0	.	647	Q96PE1	GP124_HUMAN	I	640;647	ENSP00000406367:V647I	ENSP00000406367:V647I	V	+	1	0	GPR124	37812335	1.000000	0.71417	0.979000	0.43373	0.958000	0.62258	3.106000	0.50322	0.246000	0.21394	-0.140000	0.14226	GTC		0.677	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			77	24	0	0	0	1	0	77	24				
TP53	7157	broad.mit.edu	37	17	7576927	7576927	+	Splice_Site	SNP	C	C	A	rs587781702		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr17:7576927C>A	ENST00000269305.4	-	9	1109		c.e9-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	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						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.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TTGGGCAGTGCTAGGAAAGAG	0.493		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"""		30	Unknown(20)|Whole gene deletion(8)|Deletion - Frameshift(2)	p.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)	upper_aerodigestive_tract(7)|ovary(5)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|liver(2)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(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.e9-1	Other conserved DNA damage response genes	tumor protein p53							138.0	124.0	129.0					17																	7576927		2203	4300	6503	SO:0001630	splice_region_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.chr17:7576927C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.920-1G>T	17.37:g.7576927C>A		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_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron		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)	9	1052	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.522	1.108605	0.20714	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0356	0.58870	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517652	0.043000	0.20138	0.996000	0.52242	0.305000	0.27757	0.852000	0.27764	2.462000	0.83206	0.561000	0.74099	.		0.493	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	39	14	1	0	1.60099e-16	1	1.85569e-16	39	14				
EPRS	2058	broad.mit.edu	37	1	220195728	220195728	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:220195728C>T	ENST00000366923.3	-	9	1345	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	359	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTGAATTTTGCAGCGATAAAG	0.378																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(1075-1077)tGc>tAc		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						268.0	254.0	259.0					1																	220195728		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220195728C>T	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1076G>A	1.37:g.220195728C>T	ENSP00000355890:p.Cys359Tyr						p.C359Y	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	9	1345	-			359			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.1076G>A	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877547	0.91664	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.23348	1.91	5.88	5.88	0.94601	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.080669	0.85682	D	0.000000	T	0.60314	0.2259	M	0.87456	2.885	0.80722	D	1	D;D;P;D	0.89917	0.999;1.0;0.834;1.0	D;D;P;D	0.97110	0.99;0.995;0.642;1.0	T	0.64884	-0.6302	10	0.87932	D	0	-7.7173	20.2405	0.98372	0.0:1.0:0.0:0.0	.	383;359;359;359	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	Y	359;359;383	ENSP00000355890:C359Y	ENSP00000355890:C359Y	C	-	2	0	EPRS	218262351	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.280000	0.78610	2.797000	0.96272	0.561000	0.74099	TGC		0.378	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		5	219	0	0	0	1	0	5	219				
LCT	3938	broad.mit.edu	37	2	136570301	136570301	+	Silent	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr2:136570301G>A	ENST00000264162.2	-	7	1943	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	645	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGGGTCCTCAGGGTGGCTGGG	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1933-1935)Ctg>Ttg		lactase							113.0	98.0	103.0					2																	136570301		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570301G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1933C>T	2.37:g.136570301G>A							p.L645L	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1943	-			645			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1933C>T	CCDS2178.1																																																																																				0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	80	0	0	0	1	0	5	80				
ZNF648	127665	broad.mit.edu	37	1	182025561	182025561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:182025561C>A	ENST00000339948.3	-	2	1792	c.1585G>T	c.(1585-1587)Gag>Tag	p.E529*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	529					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(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TAGGGCCTCTCTCCGTTGTGC	0.612																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1585-1587)Gag>Tag		zinc finger protein 648							159.0	125.0	137.0					1																	182025561		2203	4300	6503	SO:0001587	stop_gained	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182025561C>A	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1585G>T	1.37:g.182025561C>A	ENSP00000344129:p.Glu529*						p.E529*	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	1792	-			529					B2RP16	Nonsense_Mutation	SNP	ENST00000339948.3	37	c.1585G>T	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	38	6.921294	0.97936	.	.	ENSG00000179930	ENST00000339948	.	.	.	2.77	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.8524	0.35208	0.2254:0.7746:0.0:0.0	.	.	.	.	X	529	.	ENSP00000344129:E529X	E	-	1	0	ZNF648	180292184	0.406000	0.25344	0.988000	0.46212	0.991000	0.79684	1.422000	0.34826	0.672000	0.31204	0.655000	0.94253	GAG		0.612	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	29	1	0	0.004672	1	0.00476544	3	29				
LAMB1	3912	broad.mit.edu	37	7	107600202	107600202	+	Missense_Mutation	SNP	C	C	T	rs376461562		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr7:107600202C>T	ENST00000222399.6	-	19	2622	c.2392G>A	c.(2392-2394)Gtg>Atg	p.V798M	LAMB1_ENST00000393560.1_Missense_Mutation_p.V798M|LAMB1_ENST00000393561.1_Missense_Mutation_p.V822M	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	798	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CTTCCAACCACGTTGGGCCGG	0.522																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2464-2466)Gtg>Atg		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	MET/VAL	0,4406		0,0,2203	58.0	55.0	56.0		2392	5.3	1.0	7		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMB1	NM_002291.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	798/1787	107600202	1,13005	2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107600202C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2392G>A	7.37:g.107600202C>T	ENSP00000222399:p.Val798Met					LAMB1_ENST00000222399.6_Missense_Mutation_p.V798M|LAMB1_ENST00000393560.1_Missense_Mutation_p.V798M	p.V822M			P07942	LAMB1_HUMAN			17	2648	-			798			Laminin EGF-like 7.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2464G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638775	0.87760	0.0	1.16E-4	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.66280	-0.2;-0.2;-0.2	5.31	5.31	0.75309	EGF-like, laminin (4);	.	.	.	.	D	0.88299	0.6399	H	0.98936	4.375	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77004	0.969;0.976;0.989	D	0.92727	0.6196	9	0.87932	D	0	.	19.1741	0.93597	0.0:1.0:0.0:0.0	.	798;798;822	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	M	822;798;798	ENSP00000377191:V822M;ENSP00000222399:V798M;ENSP00000377190:V798M	ENSP00000222399:V798M	V	-	1	0	LAMB1	107387438	1.000000	0.71417	0.967000	0.41034	0.968000	0.65278	4.512000	0.60469	2.759000	0.94783	0.563000	0.77884	GTG		0.522	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		3	27	0	0	0	1	0	3	27				
SV2A	9900	broad.mit.edu	37	1	149884966	149884966	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:149884966T>C	ENST00000369146.3	-	2	917	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	SV2A_ENST00000369145.1_Missense_Mutation_p.K143E	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	143					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCTCGTTCTTTCCGTCGTTGT	0.637																																						ENST00000369146.3																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(427-429)Aaa>Gaa		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						113.0	113.0	113.0					1																	149884966		2203	4300	6503	SO:0001583	missense	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884966T>C	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.427A>G	1.37:g.149884966T>C	ENSP00000358142:p.Lys143Glu					SV2A_ENST00000369145.1_Missense_Mutation_p.K143E	p.K143E	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	917	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		143					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.427A>G	CCDS940.1	.	.	.	.	.	.	.	.	.	.	T	9.659	1.143658	0.21205	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.66995	0.78;-0.24	5.07	5.07	0.68467	Major facilitator superfamily domain, general substrate transporter (1);	0.126562	0.51477	D	0.000089	T	0.29288	0.0729	N	0.25144	0.715	0.58432	D	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.23297	-1.0192	10	0.02654	T	1	-13.4933	14.1554	0.65415	0.0:0.0:0.0:1.0	.	143	Q7L0J3	SV2A_HUMAN	E	143	ENSP00000358142:K143E;ENSP00000358141:K143E	ENSP00000358141:K143E	K	-	1	0	SV2A	148151590	0.990000	0.36364	1.000000	0.80357	0.987000	0.75469	1.752000	0.38349	2.128000	0.65567	0.455000	0.32223	AAA		0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			23	45	0	0	0	1	0	23	45				
NCF4	4689	broad.mit.edu	37	22	37266570	37266570	+	Silent	SNP	G	G	A	rs554368196		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr22:37266570G>A	ENST00000248899.6	+	5	640	c.456G>A	c.(454-456)ccG>ccA	p.P152P	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000397147.4_Silent_p.P152P|CTA-833B7.2_ENST00000431290.1_RNA	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	152					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GGCTCCGCCCGCGCACCCGGA	0.612																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(454-456)ccG>ccA		neutrophil cytosolic factor 4, 40kDa							49.0	49.0	49.0					22																	37266570		2203	4300	6503	SO:0001819	synonymous_variant	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37266570G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.456G>A	22.37:g.37266570G>A						NCF4_ENST00000248899.6_Silent_p.P152P	p.P152P	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			5	640	+			152					A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Silent	SNP	ENST00000248899.6	37	c.456G>A	CCDS13934.1																																																																																				0.612	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		30	45	0	0	0	1	0	30	45				
POLR2B	5431	broad.mit.edu	37	4	57860925	57860925	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr4:57860925C>T	ENST00000381227.1	+	6	882	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	POLR2B_ENST00000431623.2_Missense_Mutation_p.R82W|POLR2B_ENST00000441246.2_Missense_Mutation_p.R150W|POLR2B_ENST00000314595.5_Missense_Mutation_p.R157W|snoU13_ENST00000459266.1_RNA			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	157					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AATTATGTTGCGGTCAACTTA	0.353																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(469-471)Cgg>Tgg		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							73.0	77.0	76.0					4																	57860925		2202	4300	6502	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57860925C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.469C>T	4.37:g.57860925C>T	ENSP00000370625:p.Arg157Trp					POLR2B_ENST00000314595.5_Missense_Mutation_p.R157W|POLR2B_ENST00000431623.2_Missense_Mutation_p.R82W|POLR2B_ENST00000441246.2_Missense_Mutation_p.R150W	p.R157W			P30876	RPB2_HUMAN			6	882	+	Glioma(25;0.08)|all_neural(26;0.181)		157					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.469C>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287374	0.95517	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90374	0.4383	10	0.87932	D	0	.	19.9884	0.97356	0.0:1.0:0.0:0.0	.	82;157	C9J4M6;P30876	.;RPB2_HUMAN	W	157;82;150;157	ENSP00000370625:R157W;ENSP00000391096:R82W;ENSP00000391452:R150W;ENSP00000312735:R157W	ENSP00000312735:R157W	R	+	1	2	POLR2B	57555682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.727000	0.84838	2.736000	0.93811	0.557000	0.71058	CGG		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		50	47	0	0	0	1	0	50	47				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	47	0	0	0	1	0	4	47				
CALHM2	51063	broad.mit.edu	37	10	105207301	105207301	+	Missense_Mutation	SNP	C	C	T	rs2232662	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr10:105207301C>T	ENST00000260743.5	-	4	1103	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CALHM2_ENST00000494180.1_5'Flank|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.V194M	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	194			V -> M (in dbSNP:rs2232662).		ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						ATGGCCACCACGCCGATGAGC	0.602													C|||	15	0.00299521	0.0045	0.0058	5008	,	,		19406	0.0		0.005	False		,,,				2504	0.0					ENST00000260743.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(580-582)Gtg>Atg		calcium homeostasis modulator 2		C	MET/VAL	44,4360	45.3+/-79.5	0,44,2158	33.0	33.0	33.0		580	2.4	1.0	10	dbSNP_98	33	33,8565	21.6+/-65.8	0,33,4266	yes	missense	CALHM2	NM_015916.4	21	0,77,6424	TT,TC,CC		0.3838,0.9991,0.5922	benign	194/324	105207301	77,12925	2202	4299	6501	SO:0001583	missense	51063					integral to membrane		g.chr10:105207301C>T	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.580G>A	10.37:g.105207301C>T	ENSP00000260743:p.Val194Met					CALHM2_ENST00000369788.3_Missense_Mutation_p.V194M	p.V194M	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN			4	1103	-			194		V -> M (in dbSNP:rs2232662).			D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.580G>A	CCDS7549.1	7	0.003205128205128205	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	C	18.47	3.630290	0.67015	0.009991	0.003838	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.20069	2.1;2.1	5.37	2.39	0.29439	.	0.568703	0.18152	N	0.150074	T	0.11707	0.0285	L	0.44542	1.39	0.54753	D	0.999981	P	0.43431	0.807	B	0.39465	0.3	T	0.02596	-1.1136	10	0.62326	D	0.03	-4.214	6.7617	0.23544	0.1261:0.6589:0.0:0.2149	rs2232662;rs2232662	194	Q9HA72	CAHM2_HUMAN	M	194	ENSP00000358803:V194M;ENSP00000260743:V194M	ENSP00000260743:V194M	V	-	1	0	CALHM2	105197291	0.048000	0.20356	0.986000	0.45419	0.997000	0.91878	0.420000	0.21263	0.603000	0.29913	0.561000	0.74099	GTG		0.602	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		17	26	0	0	0	1	0	17	26				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		5	16	0	0	0	1	0	5	16				
RECQL	5965	broad.mit.edu	37	12	21626537	21626537	+	Silent	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr12:21626537T>C	ENST00000444129.2	-	12	1863	c.1395A>G	c.(1393-1395)gtA>gtG	p.V465V	RECQL_ENST00000421138.2_Silent_p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	465					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGAGTTCCATACTTCATCAA	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1393-1395)gtA>gtG	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							137.0	111.0	120.0					12																	21626537		2202	4299	6501	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21626537T>C	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1395A>G	12.37:g.21626537T>C						RECQL_ENST00000421138.2_Silent_p.V465V	p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			12	1863	-			465					A8K6G2	Silent	SNP	ENST00000444129.2	37	c.1395A>G	CCDS31756.1																																																																																				0.323	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		4	49	0	0	0	1	0	4	49				
FCRL1	115350	broad.mit.edu	37	1	157771741	157771741	+	Missense_Mutation	SNP	C	C	A	rs200955967		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:157771741C>A	ENST00000368176.3	-	5	917	c.850G>T	c.(850-852)Gcc>Tcc	p.A284S	FCRL1_ENST00000358292.3_Missense_Mutation_p.A284S|FCRL1_ENST00000491942.1_Missense_Mutation_p.A284S|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	284	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGCGCTGGGCCCCCAGGCCA	0.562																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(850-852)Gcc>Tcc		Fc receptor-like 1							79.0	83.0	82.0					1																	157771741		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771741C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.850G>T	1.37:g.157771741C>A	ENSP00000357158:p.Ala284Ser					FCRL1_ENST00000491942.1_Missense_Mutation_p.A284S|FCRL1_ENST00000368176.3_Missense_Mutation_p.A284S|FCRL1_ENST00000489998.1_5'UTR	p.A284S	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	901	-	all_hematologic(112;0.0378)		284			Ig-like C2-type 3.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.850G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199536	0.38806	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.02395	4.31;4.31;4.31	5.1	2.11	0.27256	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.520850	0.03430	N	0.207609	T	0.01730	0.0055	L	0.45698	1.435	0.09310	N	1	P;P;D	0.56521	0.57;0.73;0.976	B;P;P	0.50109	0.202;0.495;0.631	T	0.46317	-0.9200	10	0.13853	T	0.58	.	7.4085	0.27004	0.0:0.5899:0.3218:0.0883	.	284;284;284	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	S	284	ENSP00000351039:A284S;ENSP00000357158:A284S;ENSP00000418130:A284S	ENSP00000351039:A284S	A	-	1	0	FCRL1	156038365	0.000000	0.05858	0.002000	0.10522	0.873000	0.50193	-0.555000	0.05999	0.379000	0.24794	0.650000	0.86243	GCC		0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		32	40	1	0	6.84511e-11	1	7.75779e-11	32	40				
GPR98	84059	broad.mit.edu	37	5	89992872	89992872	+	Silent	SNP	C	C	T	rs75195840		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr5:89992872C>T	ENST00000405460.2	+	34	8160	c.8064C>T	c.(8062-8064)tcC>tcT	p.S2688S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2688					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCCAAGCTCCGACACTGTTA	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(8062-8064)tcC>tcT		G protein-coupled receptor 98		C		1,3797		0,1,1898	171.0	160.0	163.0		8064	-7.7	0.7	5	dbSNP_133	163	0,8232		0,0,4116	no	coding-synonymous	GPR98	NM_032119.3		0,1,6014	TT,TC,CC		0.0,0.0263,0.0083		2688/6307	89992872	1,12029	1899	4116	6015	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89992872C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8064C>T	5.37:g.89992872C>T							p.S2688S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	34	8160	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2688					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.8064C>T	CCDS47246.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.552	-0.849077	0.02651	2.63E-4	0.0	ENSG00000164199	ENST00000509621	.	.	.	6.06	-7.66	0.01277	.	.	.	.	.	T	0.38241	0.1033	.	.	.	0.53005	D	0.99996	.	.	.	.	.	.	T	0.43065	-0.9414	4	.	.	.	.	4.3153	0.10990	0.2183:0.1598:0.0737:0.5482	.	.	.	.	L	254	.	.	P	+	2	0	GPR98	90028628	0.000000	0.05858	0.714000	0.30535	0.043000	0.13939	-2.732000	0.00804	-1.369000	0.02147	-0.345000	0.07892	CCG		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		27	58	0	0	0	1	0	27	58				
CEP192	55125	broad.mit.edu	37	18	13056131	13056131	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr18:13056131C>G	ENST00000325971.8	+	17	3347	c.1754C>G	c.(1753-1755)tCa>tGa	p.S585*	CEP192_ENST00000506447.1_Nonsense_Mutation_p.S1181*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.S706*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	585					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGGTGGGGTCAGCCACATCA	0.527																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3541-3543)tCa>tGa		centrosomal protein 192kDa							58.0	59.0	59.0					18																	13056131		2203	4300	6503	SO:0001587	stop_gained	55125							g.chr18:13056131C>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1754C>G	18.37:g.13056131C>G	ENSP00000317156:p.Ser585*					CEP192_ENST00000430049.2_Nonsense_Mutation_p.S706*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.S585*	p.S1181*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	3622	+			776					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37	c.3542C>G		.	.	.	.	.	.	.	.	.	.	C	35	5.596238	0.96602	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	4.71	2.87	0.33458	.	1.247150	0.05806	N	0.613086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.0242	7.2214	0.25990	0.1677:0.7445:0.0:0.0878	.	.	.	.	X	1181;585;585;706	.	ENSP00000317156:S585X	S	+	2	0	CEP192	13046131	0.000000	0.05858	0.002000	0.10522	0.093000	0.18481	0.263000	0.18478	0.492000	0.27815	0.563000	0.77884	TCA		0.527	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		23	38	0	0	0	1	0	23	38				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	74	0	0	0	1	0	4	74				
C15orf57	90416	broad.mit.edu	37	15	40855084	40855084	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:40855084A>C	ENST00000358005.3	-	2	404	c.131T>G	c.(130-132)gTg>gGg	p.V44G	C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	44										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GCAAGAATCCACAAAGGAGTC	0.512																																						ENST00000358005.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						c.(130-132)gTg>gGg		chromosome 15 open reading frame 57							183.0	177.0	179.0					15																	40855084		2203	4300	6503	SO:0001583	missense	90416							g.chr15:40855084A>C	BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"""coiled-coil domain containing 32"""	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.131T>G	15.37:g.40855084A>C	ENSP00000350695:p.Val44Gly					C15orf57_ENST00000561011.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558113.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44G|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44G|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44G|C15orf57_ENST00000558750.1_Missense_Mutation_p.V53G	p.V44G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN			2	404	-			44					A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	37	c.131T>G	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314631	0.23908	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.45276	0.9	4.92	3.79	0.43588	.	0.729179	0.13713	N	0.367942	T	0.22742	0.0549	N	0.08118	0	0.39122	D	0.961689	B;B;B	0.27416	0.178;0.178;0.078	B;B;B	0.24541	0.054;0.054;0.054	T	0.14727	-1.0462	10	0.66056	D	0.02	-22.3122	8.5492	0.33440	0.8501:0.0:0.1499:0.0	.	44;53;44	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	G	44;53	ENSP00000350695:V44G	ENSP00000350695:V44G	V	-	2	0	C15orf57	38642376	0.600000	0.26899	0.903000	0.35520	0.295000	0.27426	1.157000	0.31724	1.969000	0.57287	0.454000	0.30748	GTG		0.512	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		24	233	0	0	0	1	0	24	233				
MYBL2	4605	broad.mit.edu	37	20	42331293	42331293	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr20:42331293G>A	ENST00000217026.4	+	8	1242	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	MYBL2_ENST00000396863.4_Missense_Mutation_p.R348H	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	372					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCGAGTACCGCCTGGATGGC	0.637																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1114-1116)cGc>cAc		v-myb avian myeloblastosis viral oncogene homolog-like 2							106.0	103.0	104.0					20																	42331293		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42331293G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1115G>A	20.37:g.42331293G>A	ENSP00000217026:p.Arg372His					MYBL2_ENST00000396863.4_Missense_Mutation_p.R348H	p.R372H	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		8	1242	+		Myeloproliferative disorder(115;0.00452)	372					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1115G>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180769	0.94846	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.17213	2.29;2.3	4.99	4.99	0.66335	.	0.053127	0.85682	D	0.000000	T	0.22085	0.0532	L	0.27053	0.805	0.80722	D	1	B;D	0.69078	0.015;0.997	B;P	0.54210	0.007;0.745	T	0.01600	-1.1315	10	0.27082	T	0.32	-29.2097	17.4343	0.87547	0.0:0.0:1.0:0.0	.	348;372	F8W6N6;P10244	.;MYBB_HUMAN	H	348;372	ENSP00000380072:R348H;ENSP00000217026:R372H	ENSP00000217026:R372H	R	+	2	0	MYBL2	41764707	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.186000	0.94906	2.488000	0.83962	0.462000	0.41574	CGC		0.637	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		67	99	0	0	0	1	0	67	99				
PCDHGB1	56104	broad.mit.edu	37	5	140731932	140731932	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr5:140731932C>T	ENST00000523390.1	+	1	2105	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	702					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTCCTCGCGGTGATTCTA	0.617																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2104-2106)gCg>gTg									125.0	136.0	132.0					5																	140731932		2078	4197	6275	SO:0001583	missense	0							g.chr5:140731932C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2105C>T	5.37:g.140731932C>T	ENSP00000429273:p.Ala702Val					PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A702V	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2105	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2105C>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	9.121	1.008912	0.19199	.	.	ENSG00000254221	ENST00000523390	T	0.16457	2.34	5.68	3.87	0.44632	.	.	.	.	.	T	0.15825	0.0381	M	0.62723	1.935	0.09310	N	1	B;P	0.35908	0.126;0.527	B;B	0.26517	0.065;0.07	T	0.13656	-1.0501	9	0.45353	T	0.12	.	8.4801	0.33038	0.0:0.7259:0.1296:0.1445	.	702;702	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	702	ENSP00000429273:A702V	ENSP00000429273:A702V	A	+	2	0	PCDHGB1	140712116	0.502000	0.26107	0.126000	0.21872	0.028000	0.11728	-0.229000	0.09098	1.532000	0.49169	0.655000	0.94253	GCG		0.617	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		8	184	0	0	0	1	0	8	184				
PDP1	54704	broad.mit.edu	37	8	94934399	94934399	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:94934399T>C	ENST00000297598.4	+	2	381	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	PDP1_ENST00000396200.3_Missense_Mutation_p.Y63H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H|PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	38					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTCCTCATCGTACATTCCTCA	0.468																																						ENST00000396200.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(187-189)Tac>Cac		pyruvate dehyrogenase phosphatase catalytic subunit 1							175.0	152.0	160.0					8																	94934399		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934399T>C	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.112T>C	8.37:g.94934399T>C	ENSP00000297598:p.Tyr38His					PDP1_ENST00000517764.1_Missense_Mutation_p.Y38H|PDP1_ENST00000520728.1_Missense_Mutation_p.Y38H|PDP1_ENST00000297598.4_Missense_Mutation_p.Y38H	p.Y63H	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	463	+			38					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.187T>C	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.794165	0.00617	.	.	ENSG00000164951	ENST00000297598;ENST00000520614;ENST00000520728;ENST00000518107;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	6.16	5.13	0.70059	.	0.319061	0.28618	N	0.014706	T	0.10594	0.0259	N	0.00538	-1.39	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23332	-1.0191	10	0.11485	T	0.65	-4.5192	3.3949	0.07302	0.0:0.5298:0.0:0.4702	.	89;38	B4DYX8;Q9P0J1	.;PDP1_HUMAN	H	38;38;38;38;63;38;38;38;38	ENSP00000297598:Y38H;ENSP00000428317:Y38H;ENSP00000379503:Y63H;ENSP00000430380:Y38H	ENSP00000297598:Y38H	Y	+	1	0	PDP1	95003575	0.284000	0.24287	0.016000	0.15963	0.047000	0.14425	2.308000	0.43690	1.205000	0.43262	0.528000	0.53228	TAC		0.468	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444		32	85	0	0	0	1	0	32	85				
KIAA1429	25962	broad.mit.edu	37	8	95538772	95538772	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr8:95538772T>G	ENST00000297591.5	-	8	1775	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T|KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	567					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACCAAGTCTTTTAATCTCTGA	0.418																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1699-1701)aAa>aCa		KIAA1429							124.0	123.0	123.0					8																	95538772		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538772T>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1700A>C	8.37:g.95538772T>G	ENSP00000297591:p.Lys567Thr					KIAA1429_ENST00000421249.2_Missense_Mutation_p.K567T|KIAA1429_ENST00000437199.1_Missense_Mutation_p.K567T	p.K567T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1775	-	Breast(36;3.29e-05)		567					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1700A>C	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019584	0.54576	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.54279	0.59;0.6;0.58	5.95	5.95	0.96441	.	0.051192	0.85682	D	0.000000	T	0.52306	0.1726	L	0.27053	0.805	0.52501	D	0.999955	P;P	0.50528	0.936;0.936	P;P	0.50934	0.654;0.654	T	0.55617	-0.8113	10	0.59425	D	0.04	-24.2699	16.4069	0.83677	0.0:0.0:0.0:1.0	.	567;567	Q69YN4-4;Q69YN4	.;VIR_HUMAN	T	567	ENSP00000297591:K567T;ENSP00000395600:K567T;ENSP00000398390:K567T	ENSP00000297591:K567T	K	-	2	0	KIAA1429	95607948	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.141000	0.58038	2.272000	0.75746	0.460000	0.39030	AAA		0.418	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		202	123	0	0	0	1	0	202	123				
ACTRT2	140625	broad.mit.edu	37	1	2939177	2939177	+	Silent	SNP	C	C	T			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:2939177C>T	ENST00000378404.2	+	1	1132	c.927C>T	c.(925-927)caC>caT	p.H309H		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	309						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCCTGTTCCACGGGCTGGATG	0.592																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(925-927)caC>caT		actin-related protein T2							51.0	59.0	56.0					1																	2939177		2202	4300	6502	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2939177C>T	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.927C>T	1.37:g.2939177C>T							p.H309H	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1132	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	309					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.927C>T	CCDS45.1																																																																																				0.592	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		46	73	0	0	0	1	0	46	73				
LAMP3	27074	broad.mit.edu	37	3	182853620	182853620	+	Silent	SNP	C	C	T	rs369571047		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr3:182853620C>T	ENST00000265598.3	-	5	1257	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	LAMP3_ENST00000466939.1_Silent_p.G310G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	334					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGAAGGAATGCCCGACTGCTG	0.468																																						ENST00000265598.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28						c.(1000-1002)ggG>ggA		lysosomal-associated membrane protein 3							293.0	279.0	284.0					3																	182853620		2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182853620C>T	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1002G>A	3.37:g.182853620C>T						LAMP3_ENST00000466939.1_Silent_p.G310G	p.G334G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		5	1257	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		334					D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.1002G>A	CCDS3242.1																																																																																				0.468	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			5	383	0	0	0	1	0	5	383				
KMT2B	9757	broad.mit.edu	37	19	36211883	36211883	+	Missense_Mutation	SNP	G	G	A	rs202218975		TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr19:36211883G>A	ENST00000222270.7	+	3	1634	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KMT2B_ENST00000341701.1_Intron|KMT2B_ENST00000420124.1_Missense_Mutation_p.R545Q|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	545	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACACCCCGGCGATTTATGGAT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		8240	0.0		0.001	False		,,,				2504	0.0					ENST00000420124.1																			0											c.(1633-1635)cGa>cAa									32.0	36.0	35.0					19																	36211883		1925	4134	6059	SO:0001583	missense	0							g.chr19:36211883G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1634G>A	19.37:g.36211883G>A	ENSP00000222270:p.Arg545Gln					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.R545Q|WBP7_ENST00000341701.1_Intron	p.R545Q							3	1634	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.1634G>A	CCDS46055.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.38	2.815302	0.50527	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.88586	-2.4;-2.4	4.62	4.62	0.57501	.	0.000000	0.33572	N	0.004776	D	0.88908	0.6565	N	0.14661	0.345	0.45330	D	0.998328	D	0.89917	1.0	D	0.79108	0.992	D	0.88787	0.3275	10	0.34782	T	0.22	.	16.3929	0.83545	0.0:0.0:1.0:0.0	.	545	Q9UMN6	MLL4_HUMAN	Q	545	ENSP00000222270:R545Q;ENSP00000398837:R545Q	ENSP00000222270:R545Q	R	+	2	0	AD000671.1	40903723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.712000	0.91403	2.400000	0.81607	0.555000	0.69702	CGA		0.587	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	8	0	0	0	1	0	7	8				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		5	203	1	0	0.0293803	1	0.0293803	5	203				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	3						4	3	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31437400	31437400	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr5:31437400delT	ENST00000511367.2	-	23	3132	c.2888delA	c.(2887-2889)aacfs	p.N963fs	DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N926fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N963fs|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N926fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	963	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.N963S(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTCATTGTGGTTAATCCTACA	0.388																																						ENST00000511367.2																			1	Substitution - Missense(1)	p.N963S(1)	large_intestine(1)	breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2887-2889)acfs		drosha, ribonuclease type III							48.0	45.0	46.0					5																	31437400		1829	4075	5904	SO:0001589	frameshift_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31437400delT	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2888delA	5.37:g.31437400delT	ENSP00000425979:p.Asn963fs					DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N926fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N963fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N926fs	p.N963fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			23	3132	-			963			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	ENST00000511367.2	37	c.2888delA	CCDS47195.1																																																																																				0.388	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		2	4						2	4	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	7						4	7	---	---	---	---
HLA-DQA2	3118	broad.mit.edu	37	6	32712958	32712958	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr6:32712958delT	ENST00000374940.3	+	2	207	c.105delT	c.(103-105)ggtfs	p.G35fs		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	35	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CCTCCTATGGTGTGAACTTCT	0.488																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(103-105)ggfs		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						207.0	204.0	205.0					6																	32712958		1511	2709	4220	SO:0001589	frameshift_variant	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32712958delT		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.105delT	6.37:g.32712958delT	ENSP00000364076:p.Gly35fs						p.G35fs	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			2	207	+			35			Alpha-1.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Frame_Shift_Del	DEL	ENST00000374940.3	37	c.105delT	CCDS4753.1																																																																																				0.488	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		7	210						7	210	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312381	+	RNA	DEL	TT	TT	-			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr15:23312380_23312381delTT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttctttttttttttt	0.401																																						ENST00000560464.1																			0																																																			0							g.chr15:23312380_23312381delTT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312390_23312391delTT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.401	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			2	4						2	4	---	---	---	---
GDF1	2657	broad.mit.edu	37	19	18981067	18981069	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-KK-A7AU-01A-11D-A32B-08	TCGA-KK-A7AU-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce4c568d-84ca-4819-a08b-7dca4ad7fc1a	f59ccc77-35be-4949-8994-517c407d30fd	g.chr19:18981067_18981069delAGG	ENST00000247005.6	-	7	1393_1395	c.48_50delCCT	c.(46-51)ctcctg>ctg	p.16_17LL>L	CERS1_ENST00000427170.2_3'UTR			P27539	GDF1_HUMAN	growth differentiation factor 1	16					growth (GO:0040007)	extracellular space (GO:0005615)											CAGCAGGGCCAGGAGGAGGAGGA	0.749																																						ENST00000247005.6																			0											c.(46-51)ctg>ct		growth differentiation factor 1			,	28,2752		2,24,1364					,	1.9	0.0			3	70,5840		6,58,2891	no	utr-3,coding	GDF1,CERS1	NM_021267.3,NM_001492.4	,	8,82,4255	A1A1,A1R,RR		1.1844,1.0072,1.1277	,	,		98,8592				SO:0001651	inframe_deletion	2657							g.chr19:18981067_18981069delAGG	M62302	CCDS42526.1	19p13.11	2014-01-30			ENSG00000130283	ENSG00000130283		"""Endogenous ligands"""	4214	protein-coding gene	gene with protein product		602880				2034669	Standard	NM_001492		Approved			P27539		ENST00000247005.6:c.48_50delCCT	19.37:g.18981076_18981078delAGG	ENSP00000247005:p.Leu17del					CERS1_ENST00000427170.2_3'UTR	p.LL16del							7	1393_1395	-								O43344	In_Frame_Del	DEL	ENST00000247005.6	37	c.48_50delCCT	CCDS42526.1																																																																																				0.749	GDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465926.1	NM_001492		2	4						2	4	---	---	---	---
