#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
ZCCHC14	23174	broad.mit.edu	37	16	87445898	87445898	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:87445898C>A	ENST00000268616.4	-	12	2235	c.2018G>T	c.(2017-2019)cGg>cTg	p.R673L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	673							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGAGCAGTCCGGGGGTTTAT	0.507																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2017-2019)cGg>cTg		zinc finger, CCHC domain containing 14							77.0	93.0	87.0					16																	87445898		2196	4289	6485	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445898C>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2018G>T	16.37:g.87445898C>A	ENSP00000268616:p.Arg673Leu						p.R673L	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2235	-			673					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.2018G>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407083	0.25378	.	.	ENSG00000140948	ENST00000268616	T	0.20738	2.05	5.59	3.63	0.41609	.	0.130335	0.49916	D	0.000126	T	0.26666	0.0652	N	0.14661	0.345	0.33721	D	0.617003	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.987	T	0.35748	-0.9776	10	0.46703	T	0.11	-25.3936	11.3208	0.49421	0.0:0.8042:0.1274:0.0684	.	673;673	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	L	673	ENSP00000268616:R673L	ENSP00000268616:R673L	R	-	2	0	ZCCHC14	86003399	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.554000	0.60760	0.718000	0.32166	-1.087000	0.02190	CGG		0.507	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		9	73	1	0	6.40141e-05	1	6.87559e-05	9	73				
FAM171A1	221061	broad.mit.edu	37	10	15255016	15255016	+	Silent	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:15255016G>A	ENST00000378116.4	-	8	2577	c.2571C>T	c.(2569-2571)caC>caT	p.H857H	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	857						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTCTTCCTCGTGGGCAGATC	0.592																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2569-2571)caC>caT		family with sequence similarity 171, member A1							137.0	141.0	140.0					10																	15255016		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255016G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2571C>T	10.37:g.15255016G>A							p.H857H	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2577	-			857					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.2571C>T	CCDS31154.1																																																																																				0.592	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		6	68	0	0	0	1	0	6	68				
RUNDC3A	10900	broad.mit.edu	37	17	42390845	42390845	+	Silent	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:42390845G>A	ENST00000426726.3	+	4	706	c.432G>A	c.(430-432)acG>acA	p.T144T	RUNDC3A_ENST00000590941.1_Silent_p.T139T|RUNDC3A_ENST00000225441.7_Silent_p.T144T|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	144	Interaction with RAP2A. {ECO:0000250}.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACATCACCACGGCTCTGCGTG	0.567																																					Pancreas(82;1061 1416 11136 20771 23901)	ENST00000426726.3																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(430-432)acG>acA		RUN domain containing 3A							62.0	67.0	65.0					17																	42390845		2101	4226	6327	SO:0001819	synonymous_variant	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42390845G>A	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.432G>A	17.37:g.42390845G>A						RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T|AC003102.3_ENST00000588097.1_RNA	p.T144T	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	4	706	+		Prostate(33;0.0233)	144			Interaction with RAP2A (By similarity).|RUN.		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Silent	SNP	ENST00000426726.3	37	c.432G>A	CCDS45698.1																																																																																				0.567	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695		4	45	0	0	0	1	0	4	45				
PCDHA13	56136	broad.mit.edu	37	5	140263757	140263757	+	Missense_Mutation	SNP	G	G	A	rs142435897	byFrequency	TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr5:140263757G>A	ENST00000289272.2	+	1	1904	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R635H|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	635	Cadherin 6. {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(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACGCGCCCTCTGGAC	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1903-1905)cGc>cAc									58.0	61.0	60.0					5																	140263757		2203	4298	6501	SO:0001583	missense	0							g.chr5:140263757G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1904G>A	5.37:g.140263757G>A	ENSP00000289272:p.Arg635His					PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R635H|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.R635H	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1904	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1904G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637159	0.47049	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53857	0.6;0.6	4.15	4.15	0.48705	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72228	0.3434	M	0.86028	2.79	0.31673	N	0.644148	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.66847	0.864;0.947;0.941	T	0.77151	-0.2693	9	0.87932	D	0	.	11.2619	0.49089	0.0886:0.0:0.9114:0.0	.	635;635;635	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	H	635	ENSP00000386821:R635H;ENSP00000289272:R635H	ENSP00000289272:R635H	R	+	2	0	PCDHA13	140243941	0.011000	0.17503	0.252000	0.24328	0.077000	0.17291	1.616000	0.36933	2.136000	0.66102	0.655000	0.94253	CGC		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		19	87	0	0	0	1	0	19	87				
GCC1	79571	broad.mit.edu	37	7	127222427	127222427	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr7:127222427C>T	ENST00000321407.2	-	2	2393	c.1969G>A	c.(1969-1971)Gct>Act	p.A657T	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	657					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTTGCTCAGCGTACAGAAAG	0.577																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1969-1971)Gct>Act		GRIP and coiled-coil domain containing 1							113.0	106.0	109.0					7																	127222427		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222427C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1969G>A	7.37:g.127222427C>T	ENSP00000318821:p.Ala657Thr						p.A657T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	2393	-			657					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1969G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538895	0.45176	.	.	ENSG00000179562	ENST00000321407	T	0.15017	2.46	5.87	4.99	0.66335	.	0.047505	0.85682	D	0.000000	T	0.30386	0.0763	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02676	-1.1125	10	0.21540	T	0.41	-5.2728	13.3198	0.60426	0.0:0.9233:0.0:0.0767	.	657	Q96CN9	GCC1_HUMAN	T	657	ENSP00000318821:A657T	ENSP00000318821:A657T	A	-	1	0	GCC1	127009663	1.000000	0.71417	0.119000	0.21687	0.002000	0.02628	6.953000	0.75995	1.626000	0.50381	0.655000	0.94253	GCT		0.577	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		4	49	0	0	0	1	0	4	49				
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	72										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(214-216)cCa>cAa																																						SO:0001583	missense	0							g.chr20:29625971C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.215C>A	20.37:g.29625971C>A	ENSP00000278882:p.Pro72Gln					FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q	p.P72Q							5	595	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.215C>A		.	.	.	.	.	.	.	.	.	.	c	12.14	1.847531	0.32606	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49720	0.77	1.68	1.68	0.24146	.	0.112402	0.64402	D	0.000009	T	0.63271	0.2497	.	.	.	0.49483	D	0.999795	D	0.63046	0.992	D	0.79784	0.993	T	0.65948	-0.6044	9	0.66056	D	0.02	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	77	F5H5R5	.	Q	72;77;72	ENSP00000408863:P77Q	ENSP00000278882:P72Q	P	+	2	0	FRG1B	28239632	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CCA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	52	1	0	0.115264	1	0.115264	3	52				
MAT1A	4143	broad.mit.edu	37	10	82034334	82034334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:82034334G>A	ENST00000372213.3	-	8	1287	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	343					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCAGCTCTCGCTCTGTCTTC	0.557																																						ENST00000372213.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1027-1029)Cga>Tga		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						174.0	156.0	162.0					10																	82034334		2203	4300	6503	SO:0001587	stop_gained	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82034334G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.1027C>T	10.37:g.82034334G>A	ENSP00000361287:p.Arg343*					MAT1A_ENST00000485270.1_5'UTR	p.R343*	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	Colorectal(32;0.229)		8	1287	-			343					D3DWD5|Q5QP09	Nonsense_Mutation	SNP	ENST00000372213.3	37	c.1027C>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	37	6.214036	0.97380	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	.	.	.	5.09	-1.26	0.09376	.	0.428221	0.25422	N	0.030793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-1.5604	15.2348	0.73419	0.0:0.0:0.5854:0.4146	.	.	.	.	X	343	.	ENSP00000361280:R343X	R	-	1	2	MAT1A	82024314	0.000000	0.05858	0.023000	0.16930	0.604000	0.37047	-0.302000	0.08221	-0.373000	0.07979	0.655000	0.94253	CGA		0.557	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		6	67	0	0	0	1	0	6	67				
GCG	2641	broad.mit.edu	37	2	163005635	163005635	+	Silent	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr2:163005635G>A	ENST00000418842.2	-	2	308	c.54C>T	c.(52-54)agC>agT	p.S18S	GCG_ENST00000375497.3_Silent_p.S18S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	18					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AACGTTGCCAGCTGCCTTGTA	0.438																																						ENST00000418842.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(52-54)agC>agT		glucagon	Exenatide(DB01276)|Phentolamine(DB00692)						145.0	141.0	142.0					2																	163005635		1876	4111	5987	SO:0001819	synonymous_variant	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163005635G>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.54C>T	2.37:g.163005635G>A						GCG_ENST00000375497.3_Silent_p.S18S	p.S18S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN			2	308	-			18					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.54C>T	CCDS46439.1																																																																																				0.438	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		10	77	0	0	0	1	0	10	77				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		9	41	0	0	0	1	0	9	41				
ENOSF1	55556	broad.mit.edu	37	18	697346	697346	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr18:697346G>A	ENST00000251101.7	-	3	291	c.203C>T	c.(202-204)gCt>gTt	p.A68V	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.A89V|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000539164.1_Missense_Mutation_p.A68V	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	68					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCATTCACAGCACAGACAAC	0.428																																						ENST00000251101.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(202-204)gCt>gTt		enolase superfamily member 1							160.0	161.0	161.0					18																	697346		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:697346G>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.203C>T	18.37:g.697346G>A	ENSP00000251101:p.Ala68Val					ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.A89V|ENOSF1_ENST00000539164.1_Missense_Mutation_p.A68V	p.A68V	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN			3	291	-			68					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.203C>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368243	0.42003	.	.	ENSG00000132199	ENST00000251101;ENST00000340116;ENST00000539164	T;T;T	0.52526	0.66;0.66;0.66	5.49	3.64	0.41730	Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	0.156546	0.56097	N	0.000028	T	0.62575	0.2439	M	0.79343	2.45	0.38593	D	0.950467	D;D;D	0.67145	0.996;0.987;0.996	P;P;P	0.61070	0.883;0.864;0.804	T	0.64807	-0.6320	10	0.41790	T	0.15	.	10.5505	0.45085	0.0748:0.1337:0.7915:0.0	.	89;113;68	A6NMP3;Q6ZS08;Q7L5Y1	.;.;ENOF1_HUMAN	V	68;89;68	ENSP00000251101:A68V;ENSP00000345974:A89V;ENSP00000446321:A68V	ENSP00000251101:A68V	A	-	2	0	ENOSF1	687346	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	4.871000	0.63042	0.644000	0.30656	0.650000	0.86243	GCT		0.428	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		5	85	0	0	0	1	0	5	85				
PLCG2	5336	broad.mit.edu	37	16	81965227	81965227	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:81965227A>G	ENST00000359376.3	+	25	2921	c.2707A>G	c.(2707-2709)Atc>Gtc	p.I903V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	903					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTTCAGAGCATCCGAGAGAT	0.577																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2707-2709)Atc>Gtc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							80.0	85.0	83.0					16																	81965227		1965	4151	6116	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81965227A>G		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2707A>G	16.37:g.81965227A>G	ENSP00000352336:p.Ile903Val						p.I903V	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			25	2921	+			903					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2707A>G	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598871	0.46318	.	.	ENSG00000197943	ENST00000359376	T	0.52057	0.68	5.54	5.54	0.83059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.195766	0.53938	D	0.000044	T	0.34106	0.0886	L	0.28115	0.83	0.43907	D	0.996548	B	0.06786	0.001	B	0.06405	0.002	T	0.14144	-1.0483	10	0.45353	T	0.12	.	9.9448	0.41602	0.8795:0.0:0.1205:0.0	.	903	P16885	PLCG2_HUMAN	V	903	ENSP00000352336:I903V	ENSP00000352336:I903V	I	+	1	0	PLCG2	80522728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.757000	0.38400	2.089000	0.63090	0.533000	0.62120	ATC		0.577	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			5	61	0	0	0	1	0	5	61				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	38	0	0	0	1	0	4	38				
ATM	472	broad.mit.edu	37	11	108205765	108205765	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr11:108205765G>A	ENST00000452508.2	+	56	8269	c.8080G>A	c.(8080-8082)Gga>Aga	p.G2694R	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2694R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2694					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G2695delG(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCGCTTAGCAGGAGGTGTAAA	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Deletion - In frame(1)	p.G2695delG(1)	large_intestine(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8080-8082)Gga>Aga	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							100.0	98.0	99.0					11																	108205765		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108205765G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8080G>A	11.37:g.108205765G>A	ENSP00000388058:p.Gly2694Arg	TSP Lung(14;0.12)				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2694R	p.G2694R	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	55	8465	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2694					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8080G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494582	0.96339	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.94330	-3.4;-3.4	5.67	5.67	0.87782	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96537	0.9397	10	0.87932	D	0	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	2694	Q13315	ATM_HUMAN	R	2694	ENSP00000278616:G2694R;ENSP00000388058:G2694R	ENSP00000278616:G2694R	G	+	1	0	ATM	107710975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.107000	0.94261	2.680000	0.91292	0.655000	0.94253	GGA		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	23	0	0	0	1	0	6	23				
TSR1	55720	broad.mit.edu	37	17	2236286	2236286	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:2236286T>C	ENST00000301364.5	-	7	2353	c.1274A>G	c.(1273-1275)gAa>gGa	p.E425G	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	425	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATCCTCATGTTCCATATCATC	0.448																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1273-1275)gAa>gGa		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							178.0	161.0	167.0					17																	2236286		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2236286T>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1274A>G	17.37:g.2236286T>C	ENSP00000301364:p.Glu425Gly						p.E425G	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			7	2353	-			425			Glu-rich.		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.1274A>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676652	0.29783	.	.	ENSG00000167721	ENST00000301364	T	0.13538	2.58	5.02	3.89	0.44902	.	0.803553	0.11541	N	0.553772	T	0.13286	0.0322	L	0.45352	1.415	0.09310	N	1	B	0.18863	0.031	B	0.18263	0.021	T	0.11203	-1.0597	10	0.30078	T	0.28	-8.6214	11.0598	0.47940	0.0:0.0:0.1549:0.8451	.	425	Q2NL82	TSR1_HUMAN	G	425	ENSP00000301364:E425G	ENSP00000301364:E425G	E	-	2	0	TSR1	2183036	0.981000	0.34729	0.381000	0.26106	0.562000	0.35680	4.198000	0.58419	2.101000	0.63845	0.528000	0.53228	GAA		0.448	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		5	28	0	0	0	1	0	5	28				
BAHD1	22893	broad.mit.edu	37	15	40754435	40754435	+	Missense_Mutation	SNP	G	G	A	rs143007309		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr15:40754435G>A	ENST00000416165.1	+	3	1828	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H|BAHD1_ENST00000561234.1_Missense_Mutation_p.R585H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	586	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCCGTCGCCGCCGCACTAAT	0.647																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1753-1755)cGc>cAc		bromo adjacent homology domain containing 1		T	HIS/ARG	2,4286		0,2,2142	70.0	81.0	77.0		1757	4.8	1.0	15	dbSNP_134	77	0,8406		0,0,4203	yes	missense	BAHD1	NM_014952.3	29	0,2,6345	AA,AG,GG		0.0,0.0466,0.0158	probably-damaging	586/781	40754435	2,12692	2144	4203	6347	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40754435G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1757G>A	15.37:g.40754435G>A	ENSP00000396976:p.Arg586His					BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R586H	p.R585H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	3	2013	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	586			Arg-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1754G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	g	18.60	3.659474	0.67586	4.66E-4	0.0	ENSG00000140320	ENST00000416165	T	0.23552	1.9	5.74	4.83	0.62350	.	0.058627	0.64402	D	0.000002	T	0.39708	0.1088	L	0.29908	0.895	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.925;0.966	T	0.35076	-0.9803	10	0.72032	D	0.01	-13.9515	16.3667	0.83331	0.0:0.0:0.8669:0.133	.	586;586;585	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	586	ENSP00000396976:R586H	ENSP00000396976:R586H	R	+	2	0	BAHD1	38541727	0.997000	0.39634	1.000000	0.80357	0.443000	0.32047	5.323000	0.65858	1.460000	0.47911	-0.196000	0.12772	CGC		0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		4	95	0	0	0	1	0	4	95				
SPATA31A6	389730	broad.mit.edu	37	9	43627235	43627235	+	Missense_Mutation	SNP	T	T	A	rs552974847	byFrequency	TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr9:43627235T>A	ENST00000332857.6	-	4	1480	c.1452A>T	c.(1450-1452)caA>caT	p.Q484H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	484					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGGCAGGAATTGGGGTGTGG	0.537													T|||	2	0.000399361	0.0	0.0	5008	,	,		14089	0.0		0.0	False		,,,				2504	0.002					ENST00000332857.6																			0											c.(1450-1452)caA>caT		SPATA31 subfamily A, member 6							92.0	103.0	100.0					9																	43627235		615	1533	2148	SO:0001583	missense	389730							g.chr9:43627235T>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1452A>T	9.37:g.43627235T>A	ENSP00000329825:p.Gln484His						p.Q484H	NM_001145196.1	NP_001138668.1					4	1480	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1452A>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466088	0.26335	.	.	ENSG00000185775	ENST00000332857	T	0.10099	2.91	2.1	0.931	0.19460	.	0.321861	0.22716	N	0.056505	T	0.12263	0.0298	L	0.56280	1.765	0.09310	N	1	P	0.50528	0.936	P	0.48030	0.564	T	0.11966	-1.0566	10	0.72032	D	0.01	0.0214	3.9328	0.09293	0.0:0.1896:0.0:0.8104	.	484	Q5VVP1	F75A6_HUMAN	H	484	ENSP00000329825:Q484H	ENSP00000329825:Q484H	Q	-	3	2	FAM75A6	43567231	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.456000	0.21859	0.267000	0.21916	-0.562000	0.04174	CAA		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		30	142	0	0	0	1	0	30	142				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		8	39	0	0	0	1	0	8	39				
TET1	80312	broad.mit.edu	37	10	70332588	70332588	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:70332588G>C	ENST00000373644.4	+	2	702	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	165					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGACACCCAAGTCCTTCCTGA	0.398																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(493-495)Gtc>Ctc		tet methylcytosine dioxygenase 1							71.0	70.0	71.0					10																	70332588		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332588G>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.493G>C	10.37:g.70332588G>C	ENSP00000362748:p.Val165Leu						p.V165L	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	702	+			165					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.493G>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	3.530	-0.095918	0.07010	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.24	-4.04	0.04010	.	1.581080	0.03860	N	0.273812	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41592	-0.9500	10	0.46703	T	0.11	.	9.4778	0.38882	0.3017:0.1319:0.5665:0.0	.	165	Q8NFU7	TET1_HUMAN	L	165	ENSP00000362748:V165L	ENSP00000362748:V165L	V	+	1	0	TET1	70002594	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.580000	0.05827	-1.141000	0.02873	-0.471000	0.05019	GTC		0.398	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		4	39	0	0	0	1	0	4	39				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		8	27	0	0	0	1	0	8	27				
ATG4D	84971	broad.mit.edu	37	19	10663643	10663643	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr19:10663643A>G	ENST00000309469.4	+	10	1498	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G|RNU7-140P_ENST00000459546.1_RNA|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	442					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGCCTGGACGACCTCTGCTCC	0.642																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(1324-1326)gAc>gGc		autophagy related 4D, cysteine peptidase							75.0	66.0	69.0					19																	10663643		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663643A>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1325A>G	19.37:g.10663643A>G	ENSP00000311318:p.Asp442Gly					ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G	p.D442G	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1498	+			442					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1325A>G	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868207	0.32977	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.19	4.14	0.48551	.	1.045320	0.07391	N	0.889109	T	0.31071	0.0785	N	0.13098	0.295	0.32503	N	0.538584	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33879	-0.9851	9	0.36615	T	0.2	-11.3571	6.1855	0.20495	0.7524:0.164:0.0836:0.0	.	379;442	B4DGM8;Q86TL0	.;ATG4D_HUMAN	G	442;109	.	ENSP00000311318:D442G	D	+	2	0	ATG4D	10524643	1.000000	0.71417	0.966000	0.40874	0.885000	0.51271	3.126000	0.50477	0.876000	0.35872	0.533000	0.62120	GAC		0.642	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		3	61	0	0	0	1	0	3	61				
MEX3A	92312	broad.mit.edu	37	1	156046660	156046660	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr1:156046660delG	ENST00000532414.2	-	2	1267	c.1268delC	c.(1267-1269)ccgfs	p.P423fs	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	423						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GTGTGCGCCCGGGGGCCCAGC	0.731																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1267-1269)cgfs		mex-3 RNA binding family member A							3.0	4.0	4.0					1																	156046660		1642	3659	5301	SO:0001589	frameshift_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046660delG	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1268delC	1.37:g.156046660delG	ENSP00000432845:p.Pro423fs						p.P423fs	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1267	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		423						Frame_Shift_Del	DEL	ENST00000532414.2	37	c.1268delC	CCDS53377.1																																																																																				0.731	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		2	4						2	4	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			6	5						6	5	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1114389	1114389	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr19:1114389delG	ENST00000361757.3	-	18	2155	c.1918delC	c.(1918-1920)cggfs	p.R640fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.R630fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.R583fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	640					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CACGCCAGCCGGGGGGCTTTG	0.697																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1918-1920)ggfs		strawberry notch homolog 2 (Drosophila)							15.0	17.0	16.0					19																	1114389		2107	4176	6283	SO:0001589	frameshift_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1114389delG	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1918delC	19.37:g.1114389delG	ENSP00000354733:p.Arg640fs					SBNO2_ENST00000438103.2_Frame_Shift_Del_p.R583fs|SBNO2_ENST00000587024.1_Frame_Shift_Del_p.R630fs	p.R640fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_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)	18	2155	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	640					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	ENST00000361757.3	37	c.1918delC	CCDS45894.1																																																																																				0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		2	4						2	4	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				7	67						7	67	---	---	---	---
