#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
DIP2C	22982	broad.mit.edu	37	10	436251	436251	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr10:436251A>T	ENST00000280886.6	-	12	1534	c.1447T>A	c.(1447-1449)Tgg>Agg	p.W483R	DIP2C_ENST00000381496.3_Missense_Mutation_p.W376R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	483						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGGAACCAGTCTCGGGGC	0.483																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1447-1449)Tgg>Agg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							132.0	128.0	130.0					10																	436251		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:436251A>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1447T>A	10.37:g.436251A>T	ENSP00000280886:p.Trp483Arg					DIP2C_ENST00000381496.3_Missense_Mutation_p.W376R	p.W483R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	12	1534	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	483					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1447T>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623297	0.87460	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.44083	0.93;0.93	5.67	5.67	0.87782	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.85859	2.78	0.58432	D	0.999999	D;B	0.71674	0.998;0.389	D;P	0.77004	0.989;0.507	T	0.66424	-0.5927	10	0.20519	T	0.43	-20.1553	15.9001	0.79365	1.0:0.0:0.0:0.0	.	376;483	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	R	483;376	ENSP00000280886:W483R;ENSP00000370907:W376R	ENSP00000280886:W483R	W	-	1	0	DIP2C	426251	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.287000	0.95975	2.162000	0.67917	0.383000	0.25322	TGG		0.483	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		3	82	0	0	0	1	0	3	82				
MAP3K4	4216	broad.mit.edu	37	6	161530825	161530825	+	Silent	SNP	G	G	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr6:161530825G>A	ENST00000392142.4	+	23	4423	c.4275G>A	c.(4273-4275)ggG>ggA	p.G1425G	MAP3K4_ENST00000366919.2_Silent_p.G1375G|MAP3K4_ENST00000366920.2_Silent_p.G1421G|MAP3K4_ENST00000348824.7_Silent_p.G1371G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGATGAGGGGACTTTAGAAG	0.463																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4273-4275)ggG>ggA		mitogen-activated protein kinase kinase kinase 4							148.0	131.0	137.0					6																	161530825		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161530825G>A	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4275G>A	6.37:g.161530825G>A						MAP3K4_ENST00000366919.2_Silent_p.G1375G|MAP3K4_ENST00000348824.7_Silent_p.G1371G|MAP3K4_ENST00000366920.2_Silent_p.G1421G	p.G1425G	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	23	4423	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1425			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.4275G>A	CCDS34565.1																																																																																				0.463	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			22	47	0	0	0	1	0	22	47				
FAM66D	100132923	broad.mit.edu	37	8	11986719	11986719	+	RNA	SNP	G	G	C	rs182717706	byFrequency	TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr8:11986719G>C	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		TGGATTTCAGGAAAAGCTGCA	0.522													C|||	6	0.00119808	0.003	0.0	5008	,	,		23680	0.0		0.0	False		,,,				2504	0.002					ENST00000434078.2																			0																																																			0							g.chr8:11986719G>C			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986719G>C								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.522	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		3	36	0	0	0	1	0	3	36				
PRSS53	339105	broad.mit.edu	37	16	31098181	31098181	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:31098181A>G	ENST00000280606.6	-	4	434	c.281T>C	c.(280-282)cTg>cCg	p.L94P		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	94	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						CAGAGAACCCAGGACCACTGA	0.612																																						ENST00000280606.6																			0				large_intestine(1)|lung(3)	4						c.(280-282)cTg>cCg		protease, serine, 53							42.0	44.0	43.0					16																	31098181		2067	4216	6283	SO:0001583	missense	339105				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:31098181A>G		CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.281T>C	16.37:g.31098181A>G	ENSP00000280606:p.Leu94Pro						p.L94P	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN			4	434	-			94			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000280606.6	37	c.281T>C	CCDS42153.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284536	0.59867	.	.	ENSG00000151006	ENST00000280606	D	0.91011	-2.77	5.75	5.75	0.90469	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.29362	U	0.012361	D	0.96106	0.8731	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96789	0.9581	10	0.87932	D	0	.	13.5751	0.61868	1.0:0.0:0.0:0.0	.	94	Q2L4Q9	PRS53_HUMAN	P	94	ENSP00000280606:L94P	ENSP00000280606:L94P	L	-	2	0	PRSS53	31005682	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	5.552000	0.67281	2.196000	0.70406	0.533000	0.62120	CTG		0.612	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108580.4	NM_001081268		3	44	0	0	0	1	0	3	44				
DCAF15	90379	broad.mit.edu	37	19	14066828	14066828	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:14066828C>G	ENST00000254337.6	+	4	492	c.471C>G	c.(469-471)ttC>ttG	p.F157L	PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	157					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCTTCGGCTTCAAGTGAGACC	0.662																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(469-471)ttC>ttG		DDB1 and CUL4 associated factor 15							57.0	55.0	56.0					19																	14066828		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14066828C>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.471C>G	19.37:g.14066828C>G	ENSP00000254337:p.Phe157Leu						p.F157L	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			4	492	+			157					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.471C>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	c	14.84	2.654637	0.47467	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.02	2.98	0.34508	.	0.000000	0.64402	D	0.000001	T	0.39200	0.1069	L	0.35414	1.06	0.80722	D	1	P	0.36837	0.571	B	0.39027	0.288	T	0.08146	-1.0736	9	0.13470	T	0.59	-22.9902	10.8601	0.46821	0.0:0.9038:0.0:0.0962	.	157	Q66K64	DCA15_HUMAN	L	157	.	ENSP00000254337:F157L	F	+	3	2	DCAF15	13927828	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.066000	0.41452	0.827000	0.34685	-0.258000	0.10820	TTC		0.662	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		3	55	0	0	0	1	0	3	55				
CMYA5	202333	broad.mit.edu	37	5	79029294	79029294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr5:79029294C>A	ENST00000446378.2	+	2	4737	c.4706C>A	c.(4705-4707)tCa>tAa	p.S1569*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1569					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAGCAAGTTCATCTCCTGAG	0.408																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4705-4707)tCa>tAa		cardiomyopathy associated 5							118.0	121.0	120.0					5																	79029294		1904	4125	6029	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79029294C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4706C>A	5.37:g.79029294C>A	ENSP00000394770:p.Ser1569*						p.S1569*	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4737	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1569					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.4706C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	41	8.915605	0.99002	.	.	ENSG00000164309	ENST00000446378	.	.	.	4.9	3.97	0.46021	.	1.181720	0.06122	N	0.669078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.671	0.40013	0.2073:0.7926:0.0:0.0	.	.	.	.	X	1569	.	ENSP00000394770:S1569X	S	+	2	0	CMYA5	79065050	0.007000	0.16637	0.162000	0.22713	0.031000	0.12232	0.560000	0.23500	2.275000	0.75901	0.655000	0.94253	TCA		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		5	130	1	0	1	1	1	5	130				
ZNF554	115196	broad.mit.edu	37	19	2834829	2834829	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:2834829C>G	ENST00000317243.5	+	5	1794	c.1596C>G	c.(1594-1596)aaC>aaG	p.N532K		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTACCAGAACAGACATCTTA	0.423																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1594-1596)aaC>aaG		zinc finger protein 554							63.0	63.0	63.0					19																	2834829		2066	4225	6291	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834829C>G	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1596C>G	19.37:g.2834829C>G	ENSP00000321132:p.Asn532Lys						p.N532K	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1794	+		Hepatocellular(1079;0.137)	532					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1596C>G	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	4.796	0.147924	0.09134	.	.	ENSG00000172006	ENST00000317243	T	0.58797	0.31	2.86	1.68	0.24146	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	N	0.03224	-0.385	0.09310	N	0.999994	B	0.25105	0.118	B	0.17098	0.017	T	0.18085	-1.0348	9	0.06236	T	0.91	.	8.678	0.34191	0.2262:0.7738:0.0:0.0	.	532	Q86TJ5	ZN554_HUMAN	K	532	ENSP00000321132:N532K	ENSP00000321132:N532K	N	+	3	2	ZNF554	2785829	.	.	0.048000	0.18961	0.005000	0.04900	.	.	1.615000	0.50252	0.643000	0.83706	AAC		0.423	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		27	62	0	0	0	1	0	27	62				
NAE1	8883	broad.mit.edu	37	16	66842495	66842495	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:66842495T>A	ENST00000290810.3	-	17	1356	c.1259A>T	c.(1258-1260)gAt>gTt	p.D420V	NAE1_ENST00000379463.2_Missense_Mutation_p.D414V|NAE1_ENST00000359087.4_Missense_Mutation_p.D423V|NAE1_ENST00000394074.2_Missense_Mutation_p.D331V			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	420					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATTTCATTATCTGGATTGTC	0.308																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1240-1242)gAt>gTt		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						106.0	113.0	111.0					16																	66842495		2200	4293	6493	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66842495T>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1259A>T	16.37:g.66842495T>A	ENSP00000290810:p.Asp420Val					NAE1_ENST00000359087.4_Missense_Mutation_p.D423V|NAE1_ENST00000290810.3_Missense_Mutation_p.D420V|NAE1_ENST00000394074.2_Missense_Mutation_p.D331V	p.D414V	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	18	1433	-		Ovarian(137;0.0563)	420					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1241A>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	T	7.218	0.596871	0.13875	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.69	4.58	0.56647	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.66439	2.03	0.80722	D	1	P;D;D	0.67145	0.818;0.996;0.975	P;P;P	0.61201	0.546;0.885;0.867	T	0.62177	-0.6909	10	0.44086	T	0.13	-8.4176	13.0238	0.58804	0.0:0.0:0.1346:0.8654	.	423;420;414	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	V	423;420;414;331	ENSP00000351990:D423V;ENSP00000290810:D420V;ENSP00000368776:D414V;ENSP00000377637:D331V	ENSP00000290810:D420V	D	-	2	0	NAE1	65399996	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.403000	0.79983	0.968000	0.38212	0.533000	0.62120	GAT		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		21	134	0	0	0	1	0	21	134				
SVEP1	79987	broad.mit.edu	37	9	113170819	113170819	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr9:113170819A>G	ENST00000401783.2	-	38	7397	c.7061T>C	c.(7060-7062)gTc>gCc	p.V2354A	SVEP1_ENST00000374469.1_Missense_Mutation_p.V2331A|SVEP1_ENST00000297826.5_Missense_Mutation_p.V280A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2354	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTTGCAGGACATGCCCTTC	0.498																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(7060-7062)gTc>gCc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							56.0	55.0	55.0					9																	113170819		1906	4126	6032	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113170819A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7061T>C	9.37:g.113170819A>G	ENSP00000384917:p.Val2354Ala					SVEP1_ENST00000374469.1_Missense_Mutation_p.V2331A|SVEP1_ENST00000297826.5_Missense_Mutation_p.V280A	p.V2354A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	7397	-			2354			Sushi 16.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.7061T>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.546401	0.00926	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.65549	-0.16;-0.16;-0.16	5.8	-2.58	0.06228	Complement control module (2);Sushi/SCR/CCP (3);	0.459896	0.25726	N	0.028702	T	0.48768	0.1518	L	0.60845	1.875	0.09310	N	0.999999	B	0.06786	0.001	B	0.13407	0.009	T	0.47699	-0.9097	10	0.06494	T	0.89	.	12.7962	0.57560	0.8126:0.0:0.1874:0.0	.	2354	Q4LDE5	SVEP1_HUMAN	A	2354;2331;280;26	ENSP00000384917:V2354A;ENSP00000363593:V2331A;ENSP00000297826:V280A	ENSP00000297826:V280A	V	-	2	0	SVEP1	112210640	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.965000	0.29319	-0.339000	0.08401	-0.242000	0.12053	GTC		0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	23	0	0	0	1	0	9	23				
NBEA	26960	broad.mit.edu	37	13	35738505	35738505	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr13:35738505G>T	ENST00000400445.3	+	24	4626	c.4092G>T	c.(4090-4092)aaG>aaT	p.K1364N	NBEA_ENST00000540320.1_Missense_Mutation_p.K1364N|NBEA_ENST00000310336.4_Missense_Mutation_p.K1364N|NBEA_ENST00000379939.2_Missense_Mutation_p.K1364N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1364					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTCTACAAAGTCTGTAATGG	0.289																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(4090-4092)aaG>aaT		neurobeachin							74.0	67.0	69.0					13																	35738505		1816	4084	5900	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35738505G>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4092G>T	13.37:g.35738505G>T	ENSP00000383295:p.Lys1364Asn					NBEA_ENST00000310336.4_Missense_Mutation_p.K1364N|NBEA_ENST00000379939.2_Missense_Mutation_p.K1364N|NBEA_ENST00000400445.3_Missense_Mutation_p.K1364N	p.K1364N			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	24	4626	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1364					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.4092G>T	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508971	0.64410	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.77	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.56280	1.765	0.80722	D	1	B;P	0.37824	0.384;0.609	B;B	0.40659	0.159;0.336	T	0.53514	-0.8428	10	0.54805	T	0.06	.	10.4572	0.44557	0.2072:0.0:0.7928:0.0	.	1364;1364	Q8NFP9;Q5T321	NBEA_HUMAN;.	N	1364;1364;1364;1364;26	ENSP00000440951:K1364N;ENSP00000383295:K1364N;ENSP00000369271:K1364N;ENSP00000308534:K1364N	ENSP00000308534:K1364N	K	+	3	2	NBEA	34636505	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.371000	0.34250	1.583000	0.49898	0.655000	0.94253	AAG		0.289	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		3	11	1	0	0.004672	1	0.00491159	3	11				
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	A	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr17:39274343A>G	ENST00000391413.2	-	1	263	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(223-225)tgT>tgC		keratin associated protein 4-11																																				SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274343A>G	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.225T>C	17.37:g.39274343A>G							p.C75C	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	263	-		Breast(137;0.000496)	75		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.225T>C	CCDS45675.1																																																																																				0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	49	0	0	0	1	0	3	49				
LOC101927755	101927755	broad.mit.edu	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																						ENST00000586209.1																			0																																																			0							g.chr17:58066651C>T																													17.37:g.58066651C>T														0	158	+									RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	16	0	0	0	1	0	3	16				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	71	0	0	0	1	0	26	71				
XIST	7503	broad.mit.edu	37	X	73065175	73065175	+	lincRNA	SNP	G	G	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chrX:73065175G>A	ENST00000429829.1	-	0	7413					NR_001564.2				X inactive specific transcript (non-protein coding)																		CTGCTGTACTGCAAAAAGGGT	0.473																																						ENST00000429829.1																			0																				219.0	195.0	202.0					X																	73065175		876	1991	2867			0							g.chrX:73065175G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065175G>A								NR_001564.2						0	7413	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.473	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		6	93	0	0	0	1	0	6	93				
SAP130	79595	broad.mit.edu	37	2	128744415	128744415	+	Silent	SNP	G	G	C			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr2:128744415G>C	ENST00000259235.3	-	14	2109	c.1980C>G	c.(1978-1980)ccC>ccG	p.P660P	SAP130_ENST00000259234.6_Silent_p.P633P|SAP130_ENST00000357702.5_Silent_p.P660P	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	660					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCCCTGGGCGGGAGCGTTGG	0.572																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1978-1980)ccC>ccG		Sin3A-associated protein, 130kDa							153.0	134.0	140.0					2																	128744415		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128744415G>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1980C>G	2.37:g.128744415G>C						SAP130_ENST00000259234.6_Silent_p.P633P|SAP130_ENST00000259235.3_Silent_p.P660P	p.P660P	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	14	2111	-	Colorectal(110;0.1)		660					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.1980C>G	CCDS2153.1																																																																																				0.572	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		28	66	0	0	0	1	0	28	66				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|SNORA41_ENST00000384675.1_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	102	0	0	0	1	0	4	102				
EI24	9538	broad.mit.edu	37	11	125453434	125453434	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:125453434C>G	ENST00000343678.4	+	11	1006	c.764C>G	c.(763-765)tCt>tGt	p.S255C	STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000278903.6_Silent_p.L292L|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000532714.1_RNA	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	0					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGTTGCGCCTCTTCTCCTTGG	0.448																																						ENST00000343678.4																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(763-765)tCt>tGt		etoposide induced 2.4							74.0	72.0	73.0					11																	125453434		1904	4131	6035	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125453434C>G	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000343678.4:c.764C>G	11.37:g.125453434C>G	ENSP00000364081:p.Ser255Cys					EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000278903.6_Silent_p.L292L	p.S255C	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	11	1006	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	0					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000343678.4	37	c.764C>G		.	.	.	.	.	.	.	.	.	.	C	12.94	2.088635	0.36855	.	.	ENSG00000149547	ENST00000343678	.	.	.	5.21	1.03	0.20045	.	.	.	.	.	T	0.38480	0.1042	.	.	.	0.21675	N	0.999599	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.62326	D	0.03	.	12.4131	0.55478	0.1209:0.5296:0.3495:0.0	.	255	A6NES3	.	C	255	.	ENSP00000364081:S255C	S	+	2	0	EI24	124958644	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.704000	0.25661	-0.063000	0.13065	0.655000	0.94253	TCT		0.448	EI24-202	KNOWN	basic	protein_coding	protein_coding		NM_004879		6	13	0	0	0	1	0	6	13				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	13	0	0	0	1	0	3	13				
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64.0	64.0	64.0					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	41	0	0	0	1	0	6	41				
PCDHB18	54660	broad.mit.edu	37	5	140615655	140615655	+	RNA	SNP	A	A	G			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr5:140615655A>G	ENST00000526308.1	+	0	1718					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AACGCGGACAACGGCCACCTA	0.677																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615655A>G	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615655A>G								NR_001281.1						0	1718	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.677	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			42	155	0	0	0	1	0	42	155				
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000572681.2_Missense_Mutation_p.R1111W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63.0	67.0	66.0					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	29	0	0	0	1	0	6	29				
MUC16	94025	broad.mit.edu	37	19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V7696M(2)|p.V3329M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTCACGGCAGGTAAA	0.582																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.V7696M(2)|p.V3329M(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23086-23088)Gtg>Atg		mucin 16, cell surface associated							89.0	97.0	94.0					19																	9064360		2057	4189	6246	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064360C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23086G>A	19.37:g.9064360C>T	ENSP00000381008:p.Val7696Met						p.V7696M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23289	-			7698			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23086G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.467	-0.560793	0.03939	.	.	ENSG00000181143	ENST00000397910	T	0.20069	2.1	2.22	-2.35	0.06684	.	.	.	.	.	T	0.09113	0.0225	N	0.12182	0.205	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.25012	-1.0144	8	0.87932	D	0	.	1.0026	0.01480	0.1728:0.1825:0.1463:0.4985	.	7696	B5ME49	.	M	7696	ENSP00000381008:V7696M	ENSP00000381008:V7696M	V	-	1	0	MUC16	8925360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.741000	0.00191	-2.163000	0.00783	-2.597000	0.00163	GTG		0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	73	0	0	0	1	0	5	73				
CIC	23152	broad.mit.edu	37	19	42791752	42791752	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791752G>C	ENST00000575354.2	+	5	678	c.638G>C	c.(637-639)cGg>cCg	p.R213P	CIC_ENST00000572681.2_Missense_Mutation_p.R1122P|CIC_ENST00000160740.3_Missense_Mutation_p.R213P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R213P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCAGCAAGCGGCACCGGGCC	0.617			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R213P(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3364-3366)cGg>cCg		capicua transcriptional repressor							65.0	66.0	65.0					19																	42791752		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791752G>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.638G>C	19.37:g.42791752G>C	ENSP00000458663:p.Arg213Pro					CIC_ENST00000575354.2_Missense_Mutation_p.R213P|CIC_ENST00000160740.3_Missense_Mutation_p.R213P	p.R1122P			Q96RK0	CIC_HUMAN			6	3433	+		Prostate(69;0.00682)	213			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3365G>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310090	0.60414	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.81029	0.4738	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84888	0.0835	8	0.87932	D	0	-14.4163	14.5138	0.67807	0.0:0.0:1.0:0.0	.	213	Q96RK0	CIC_HUMAN	P	213	.	ENSP00000160740:R213P	R	+	2	0	CIC	47483592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	37	0	0	0	1	0	8	37				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		3	41	0	0	0	1	0	3	41				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	34	0	0	0	1	0	4	34				
OR5M1	390168	broad.mit.edu	37	11	56380102	56380102	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:56380102G>A	ENST00000526538.1	-	1	876	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTGTGTTCCGTAGGCTATAG	0.403																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(877-879)Cgg>Tgg		olfactory receptor, family 5, subfamily M, member 1							178.0	174.0	175.0					11																	56380102		1844	4100	5944	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380102G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.877C>T	11.37:g.56380102G>A	ENSP00000435416:p.Arg293Trp						p.R293W	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	876	-			293					Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.877C>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580695	0.28180	.	.	ENSG00000255012	ENST00000526538	T	0.41065	1.01	3.71	2.55	0.30701	.	.	.	.	.	T	0.45115	0.1326	M	0.79805	2.47	0.09310	N	1	B	0.29378	0.243	B	0.27715	0.082	T	0.40175	-0.9577	9	0.87932	D	0	.	9.7622	0.40539	0.0:0.0:0.3308:0.6692	.	293	Q8NGP8	OR5M1_HUMAN	W	293	ENSP00000435416:R293W	ENSP00000435416:R293W	R	-	1	2	OR5M1	56136678	0.000000	0.05858	0.506000	0.27664	0.138000	0.21146	-0.012000	0.12699	0.082000	0.17018	-3.265000	0.00048	CGG		0.403	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		10	170	0	0	0	1	0	10	170				
PCDH10	57575	broad.mit.edu	37	4	134072585	134072585	+	Silent	SNP	C	C	A	rs140875995	byFrequency	TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr4:134072585C>A	ENST00000264360.5	+	1	2116	c.1290C>A	c.(1288-1290)acC>acA	p.T430T	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTCCTACACCCTGACTGTAG	0.587																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1288-1290)acC>acA		protocadherin 10		C	,	0,4394		0,0,2197	112.0	127.0	122.0		1290,1290	0.4	1.0	4	dbSNP_134	122	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous,coding-synonymous	PCDH10	NM_020815.1,NM_032961.1	,	0,2,6490	AA,AC,CC		0.0233,0.0,0.0154	,	430/897,430/1041	134072585	2,12982	2197	4295	6492	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072585C>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1290C>A	4.37:g.134072585C>A							p.T430T	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2116	+			430			Cadherin 4.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1290C>A	CCDS34063.1																																																																																				0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	139	1	0	9.05144e-12	1	9.76603e-12	12	139				
TRPM6	140803	broad.mit.edu	37	9	77442828	77442828	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr9:77442828C>T	ENST00000360774.1	-	7	944	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TRPM6_ENST00000376872.3_Missense_Mutation_p.S236N|TRPM6_ENST00000449912.2_Missense_Mutation_p.S231N|TRPM6_ENST00000361255.3_Missense_Mutation_p.S231N|TRPM6_ENST00000451710.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376871.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376864.4_Missense_Mutation_p.S236N|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000359047.2_Missense_Mutation_p.S236N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	236					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGTGAGCTTGCTGAGGGGGTT	0.537																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(706-708)aGc>aAc		transient receptor potential cation channel, subfamily M, member 6							171.0	152.0	158.0					9																	77442828		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77442828C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.707G>A	9.37:g.77442828C>T	ENSP00000354006:p.Ser236Asn					TRPM6_ENST00000376864.4_Missense_Mutation_p.S236N|TRPM6_ENST00000376871.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376872.3_Missense_Mutation_p.S236N|TRPM6_ENST00000361255.3_Missense_Mutation_p.S231N|TRPM6_ENST00000360774.1_Missense_Mutation_p.S236N|TRPM6_ENST00000359047.2_Missense_Mutation_p.S236N|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.S231N	p.S236N			Q9BX84	TRPM6_HUMAN			7	944	-			236					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.707G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159374	0.94686	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;4.07	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.997;0.993;0.976	T	0.78084	-0.2342	10	0.87932	D	0	.	18.389	0.90475	0.0:1.0:0.0:0.0	.	236;236;236;236;236;231	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	N	236;236;236;236;231;231;235;236;236	ENSP00000354006:S236N;ENSP00000407341:S236N;ENSP00000366068:S236N;ENSP00000366067:S236N;ENSP00000396672:S231N;ENSP00000354962:S231N;ENSP00000366060:S236N;ENSP00000351942:S236N	ENSP00000351942:S236N	S	-	2	0	TRPM6	76632648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.688000	0.84153	2.406000	0.81754	0.591000	0.81541	AGC		0.537	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		20	44	0	0	0	1	0	20	44				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	32	0	0	0	1	0	4	32				
ELMOD1	55531	broad.mit.edu	37	11	107463175	107463175	+	Intron	SNP	C	C	A			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:107463175C>A	ENST00000265840.7	+	1	180				ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000529675.1_3'UTR|AP000889.3_ENST00000600612.1_Missense_Mutation_p.P125T	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ACGTTTTGTGCCGGTGGCTTG	0.423																																						ENST00000600612.1																			0											c.(373-375)Ccg>Acg									113.0	112.0	113.0					11																	107463175		1997	4148	6145	SO:0001627	intron_variant	0							g.chr11:107463175C>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-86+1040C>A	11.37:g.107463175C>A						ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000529675.1_3'UTR|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000531234.1_Intron	p.P125T							2	386	+								B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.373C>A	CCDS44723.1																																																																																				0.423	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		3	48	1	0	0.00909568	1	0.00932307	3	48				
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-	rs202017154		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)gatggg>ggg	p.D57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.D57del|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(169-174)ggg>g		CD2 (cytoplasmic tail) binding protein 2																																				SO:0001651	inframe_deletion	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365550_30365552delCAT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.170_172delATG	16.37:g.30365559_30365561delCAT	ENSP00000304903:p.Asp57del					CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	345_347	-			57					B2RDX2|Q9ULP2	In_Frame_Del	DEL	ENST00000305596.3	37	c.170_172delATG	CCDS10675.1																																																																																				0.532	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		7	401						7	401	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2601322	2601322	+	Frame_Shift_Del	DEL	G	G	-	rs374090140		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr17:2601322delG	ENST00000570628.2	-	10	1820	c.1715delC	c.(1714-1716)ccgfs	p.P572fs	CLUH_ENST00000538975.1_Frame_Shift_Del_p.P572fs|CLUH_ENST00000435359.1_Frame_Shift_Del_p.P572fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	572					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.P572L(1)									GTTGAGGTCCGGGGGGAAGGT	0.692																																						ENST00000570628.1																			1	Substitution - Missense(1)	p.P572L(1)	large_intestine(1)								c.(1714-1716)cgfs		clustered mitochondria (cluA/CLU1) homolog							39.0	51.0	47.0					17																	2601322		2151	4250	6401	SO:0001589	frameshift_variant	23277							g.chr17:2601322delG	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1715delC	17.37:g.2601322delG	ENSP00000458986:p.Pro572fs					CLUH_ENST00000435359.1_Frame_Shift_Del_p.P572fs|CLUH_ENST00000575014.1_Frame_Shift_Del_p.P504fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.P572fs	p.P572fs							10	1820	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Del	DEL	ENST00000570628.2	37	c.1715delC	CCDS45572.1																																																																																				0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		3	5						3	5	---	---	---	---
SUGP1	57794	broad.mit.edu	37	19	19416875	19416875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:19416875delG	ENST00000247001.5	-	4	668	c.321delC	c.(319-321)accfs	p.T107fs	SUGP1_ENST00000334782.5_Frame_Shift_Del_p.T107fs|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	107					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TGGGCGCACTGGTCGGGGCGT	0.697																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(319-321)acfs		SURP and G patch domain containing 1							7.0	9.0	8.0					19																	19416875		2021	3950	5971	SO:0001589	frameshift_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19416875delG	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.321delC	19.37:g.19416875delG	ENSP00000247001:p.Thr107fs					SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Frame_Shift_Del_p.T107fs	p.T107fs	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			4	668	-			107					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Frame_Shift_Del	DEL	ENST00000247001.5	37	c.321delC	CCDS12399.1																																																																																				0.697	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085429	11085431	+	RNA	DEL	ACC	ACC	-			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr21:11085429_11085431delACC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaccaccaccacca	0.507																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085429_11085431delACC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085438_11085440delACC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.507	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
