#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ZNF182	7569	broad.mit.edu	37	X	47836907	47836907	+	Silent	SNP	A	A	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chrX:47836907A>G	ENST00000396965.1	-	7	929	c.579T>C	c.(577-579)caT>caC	p.H193H	ZNF182_ENST00000305127.6_Silent_p.H193H|ZNF182_ENST00000376943.3_Silent_p.H174H	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CATACTCAGTATGGAAGAACA	0.343																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(577-579)caT>caC		zinc finger protein 182							64.0	57.0	59.0					X																	47836907		2203	4299	6502	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836907A>G	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.579T>C	X.37:g.47836907A>G			Somatic				ZNF182_ENST00000305127.6_Silent_p.H193H|ZNF182_ENST00000376943.3_Silent_p.H174H	p.H193H	NM_001178099.1	NP_001171570.1	WXS	Illumina GAIIx	Phase_I	P17025	ZN182_HUMAN			7	929	-			193					A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.579T>C	CCDS35236.1																																																																																				0.343	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		10	9	0	0	0	1	0	10	9				
IFIT3	3437	broad.mit.edu	37	10	91099758	91099758	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr10:91099758C>T	ENST00000371818.4	+	2	1526	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A449V	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	449					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTAAGGGATGCCCCTTCAGGC	0.498																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(1345-1347)gCc>gTc		interferon-induced protein with tetratricopeptide repeats 3							74.0	75.0	75.0					10																	91099758		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099758C>T	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.1346C>T	10.37:g.91099758C>T	ENSP00000360883:p.Ala449Val		Somatic				LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A449V	p.A449V	NM_001549.4	NP_001540.2	WXS	Illumina GAIIx	Phase_I	O14879	IFIT3_HUMAN			2	1526	+			449					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.1346C>T	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734826	0.30774	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.13196	2.61;2.61	4.65	0.621	0.17643	.	1.124900	0.06953	N	0.814954	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.26318	0.146	B	0.19148	0.024	T	0.40813	-0.9543	10	0.13853	T	0.58	0.0712	1.3313	0.02136	0.1389:0.3907:0.245:0.2254	.	449	O14879	IFIT3_HUMAN	V	449;449;270	ENSP00000360883:A449V;ENSP00000360876:A449V	ENSP00000360876:A449V	A	+	2	0	IFIT3	91089738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.216000	0.09266	0.032000	0.15435	-0.140000	0.14226	GCC		0.498	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		3	38	0	0	0	1	0	3	38				
EXOC2	55770	broad.mit.edu	37	6	610103	610103	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr6:610103A>G	ENST00000230449.4	-	7	872	c.737T>C	c.(736-738)cTg>cCg	p.L246P	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	246					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTACTGTTCAGAACATTCTC	0.368																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(736-738)cTg>cCg		exocyst complex component 2							145.0	136.0	139.0					6																	610103		2202	4300	6502	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:610103A>G	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.737T>C	6.37:g.610103A>G	ENSP00000230449:p.Leu246Pro		Somatic				EXOC2_ENST00000448181.3_Intron	p.L246P	NM_018303.5	NP_060773.3	WXS	Illumina GAIIx	Phase_I	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	7	872	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	246					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.737T>C	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.186355	0.78789	.	.	ENSG00000112685	ENST00000230449	T	0.55760	0.5	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.69833	-0.5038	10	0.87932	D	0	-12.8069	15.5852	0.76475	1.0:0.0:0.0:0.0	.	246	Q96KP1	EXOC2_HUMAN	P	246	ENSP00000230449:L246P	ENSP00000230449:L246P	L	-	2	0	EXOC2	555103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.629000	0.90983	2.068000	0.61886	0.533000	0.62120	CTG		0.368	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		17	22	0	0	0	1	0	17	22				
TPSAB1	7177	broad.mit.edu	37	16	1291302	1291302	+	Silent	SNP	G	G	A	rs376353480		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr16:1291302G>A	ENST00000338844.3	+	3	243	c.210G>A	c.(208-210)ctG>ctA	p.L70L	TPSAB1_ENST00000461509.2_Silent_p.L77L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	70	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L70L(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				AGTGGGTGCTGACCGCAGCGC	0.706																																						ENST00000461509.2																			1	Substitution - coding silent(1)	p.L70L(1)	central_nervous_system(1)	NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10						c.(229-231)ctG>ctA		tryptase alpha/beta 1		G		0,4396		0,0,2198	45.0	44.0	44.0		210	1.3	0.9	16		44	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TPSAB1	NM_003294.3		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		70/276	1291302	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	7177				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	g.chr16:1291302G>A	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.210G>A	16.37:g.1291302G>A			Somatic				TPSAB1_ENST00000338844.3_Silent_p.L70L	p.L77L			WXS	Illumina GAIIx	Phase_I	P20231	TRYB2_HUMAN			2	425	+		Hepatocellular(780;0.00369)	70			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	ENST00000338844.3	37	c.231G>A	CCDS10431.1																																																																																				0.706	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1	NM_003294		5	44	0	0	0	1	0	5	44				
HOXB5	3215	broad.mit.edu	37	17	46670514	46670514	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:46670514G>T	ENST00000239151.5	-	1	809	c.531C>A	c.(529-531)ttC>ttA	p.F177L	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000476342.1_5'Flank|HOXB3_ENST00000472863.1_5'Flank|HOXB-AS3_ENST00000481995.1_RNA|HOXB3_ENST00000498678.1_5'Flank|HOXB3_ENST00000460160.1_5'Flank|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000477144.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	177					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						TCATCCAGGGGAATATTTGCG	0.597																																						ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(529-531)ttC>ttA		homeobox B5							42.0	46.0	45.0					17																	46670514		2202	4299	6501	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670514G>T		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.531C>A	17.37:g.46670514G>T	ENSP00000239151:p.Phe177Leu		Somatic				HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA	p.F177L	NM_002147.3	NP_002138.1	WXS	Illumina GAIIx	Phase_I	P09067	HXB5_HUMAN			1	809	-			177					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.531C>A	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365987	0.61513	.	.	ENSG00000120075	ENST00000239151	D	0.92299	-3.01	5.31	2.24	0.28232	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90779	0.7105	M	0.72118	2.19	0.80722	D	1	P	0.46220	0.874	P	0.45343	0.477	D	0.88839	0.3311	10	0.87932	D	0	.	8.0276	0.30446	0.3178:0.0:0.6822:0.0	.	177	P09067	HXB5_HUMAN	L	177	ENSP00000239151:F177L	ENSP00000239151:F177L	F	-	3	2	HOXB5	44025513	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.272000	0.43373	0.615000	0.30124	0.455000	0.32223	TTC		0.597	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			7	29	1	0	0.000442599	1	0.000442599	7	29				
PGS1	9489	broad.mit.edu	37	17	76421433	76421433	+	IGR	SNP	T	T	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:76421433T>G	ENST00000262764.6	+	0	2201				DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000585328.1_Missense_Mutation_p.M4374L|DNAH17_ENST00000389840.5_Missense_Mutation_p.M4402L	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTACCTTCCATGAAGAGTCCG	0.532																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13204-13206)Atg>Ctg		dynein, axonemal, heavy chain 17							92.0	91.0	91.0					17																	76421433		2203	4300	6503	SO:0001628	intergenic_variant	8632							g.chr17:76421433T>G		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76421433T>G			Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.M4374L|DNAH17_ENST00000586052.1_5'UTR	p.M4402L			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13328	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.13204A>C	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683326	0.47991	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.04083	3.71	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	T	0.03305	0.0096	N	0.05487	-0.04	0.50467	D	0.999872	B	0.16396	0.017	B	0.25291	0.059	T	0.52533	-0.8563	10	0.15952	T	0.53	.	14.6095	0.68507	0.0:0.0:0.0:1.0	.	4374	E7EUM8	.	L	4374;4402	ENSP00000374490:M4402L	ENSP00000300671:M4374L	M	-	1	0	DNAH17	73933028	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.700000	0.84556	2.027000	0.59764	0.482000	0.46254	ATG		0.532	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		30	44	0	0	0	1	0	30	44				
ZNF180	7733	broad.mit.edu	37	19	44981067	44981067	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr19:44981067G>C	ENST00000221327.4	-	5	1912	c.1631C>G	c.(1630-1632)aCt>aGt	p.T544S	ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.T519S|ZNF180_ENST00000592529.1_Missense_Mutation_p.T517S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	544					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)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTCTCTCCAGTGTGAGTTCT	0.423																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1630-1632)aCt>aGt		zinc finger protein 180							78.0	78.0	78.0					19																	44981067		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981067G>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1631C>G	19.37:g.44981067G>C	ENSP00000221327:p.Thr544Ser		Somatic				ZNF180_ENST00000391956.4_Missense_Mutation_p.T519S|ZNF180_ENST00000592529.1_Missense_Mutation_p.T517S	p.T544S	NM_013256.3	NP_037388.2	WXS	Illumina GAIIx	Phase_I	Q9UJW8	ZN180_HUMAN			5	1912	-		Prostate(69;0.0435)	544					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1631C>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148613	0.57151	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24151	1.87;1.87	5.23	4.15	0.48705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000561	T	0.21267	0.0512	N	0.26130	0.795	0.80722	D	1	P;P;P	0.36768	0.513;0.569;0.569	B;B;B	0.38683	0.183;0.279;0.279	T	0.06232	-1.0838	10	0.49607	T	0.09	-11.686	14.7864	0.69806	0.0:0.1447:0.8553:0.0	.	519;543;544	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	544;519	ENSP00000221327:T544S;ENSP00000375818:T519S	ENSP00000221327:T544S	T	-	2	0	ZNF180	49672907	1.000000	0.71417	0.970000	0.41538	0.976000	0.68499	3.444000	0.52914	2.437000	0.82529	0.467000	0.42956	ACT		0.423	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		31	41	0	0	0	1	0	31	41				
TTF1	7270	broad.mit.edu	37	9	135251526	135251526	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr9:135251526G>C	ENST00000334270.2	-	11	2533	c.2494C>G	c.(2494-2496)Cta>Gta	p.L832V	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	832					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGCAAAGGTAGAGTCGTCTCA	0.403																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2494-2496)Cta>Gta		transcription termination factor, RNA polymerase I							124.0	118.0	120.0					9																	135251526		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251526G>C	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2494C>G	9.37:g.135251526G>C	ENSP00000333920:p.Leu832Val		Somatic				TTF1_ENST00000461970.1_5'UTR	p.L832V	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2533	-		Myeloproliferative disorder(178;0.204)	832					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2494C>G	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.352701	0.41700	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11712	2.75	5.12	5.12	0.69794	.	0.380127	0.21668	N	0.070909	T	0.25382	0.0617	L	0.61218	1.895	0.09310	N	1	D	0.67145	0.996	P	0.57620	0.824	T	0.03068	-1.1076	10	0.66056	D	0.02	.	14.4204	0.67180	0.0:0.0:1.0:0.0	.	832	Q15361	TTF1_HUMAN	V	832	ENSP00000333920:L832V	ENSP00000245588:L832V	L	-	1	2	TTF1	134241347	0.871000	0.30034	0.040000	0.18447	0.258000	0.26162	2.307000	0.43682	2.560000	0.86352	0.558000	0.71614	CTA		0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		18	26	0	0	0	1	0	18	26				
GAP43	2596	broad.mit.edu	37	3	115395065	115395065	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:115395065A>C	ENST00000305124.6	+	2	602	c.236A>C	c.(235-237)gAg>gCg	p.E79A	GAP43_ENST00000393780.3_Missense_Mutation_p.E115A	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	79					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GATGGGGTGGAGAAGAAGGGA	0.537																																						ENST00000393780.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(343-345)gAg>gCg		growth associated protein 43							81.0	78.0	79.0					3																	115395065		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395065A>C		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.236A>C	3.37:g.115395065A>C	ENSP00000305010:p.Glu79Ala		Somatic				GAP43_ENST00000305124.6_Missense_Mutation_p.E79A	p.E115A	NM_001130064.1	NP_001123536.1	WXS	Illumina GAIIx	Phase_I	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	812	+			79					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.344A>C	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.604969	0.28623	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.60920	0.15;0.15	4.62	3.42	0.39159	Neuromodulin (GAP-43), C-terminal (1);	0.205951	0.42548	N	0.000698	T	0.46964	0.1420	L	0.45228	1.405	0.42532	D	0.993044	B;B	0.25772	0.134;0.006	B;B	0.20767	0.031;0.011	T	0.43212	-0.9405	10	0.46703	T	0.11	-7.7158	10.5671	0.45179	0.6893:0.3107:0.0:0.0	.	115;79	A8K0Y4;P17677	.;NEUM_HUMAN	A	79;115	ENSP00000305010:E79A;ENSP00000377372:E115A	ENSP00000305010:E79A	E	+	2	0	GAP43	116877755	1.000000	0.71417	0.983000	0.44433	0.898000	0.52572	3.627000	0.54252	0.865000	0.35603	0.533000	0.62120	GAG		0.537	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		19	21	0	0	0	1	0	19	21				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A			Somatic				CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR	p.S151S	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	52	0	0	0	1	0	3	52				
RASA2	5922	broad.mit.edu	37	3	141231112	141231112	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:141231112A>C	ENST00000452898.1	+	2	276	c.241A>C	c.(241-243)Aaa>Caa	p.K81Q	RASA2_ENST00000286364.3_Missense_Mutation_p.K81Q	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	81	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGTTGTGGAAAAATCTTTAAG	0.284																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(241-243)Aaa>Caa		RAS p21 protein activator 2							57.0	60.0	59.0					3																	141231112		2203	4298	6501	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141231112A>C	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.241A>C	3.37:g.141231112A>C	ENSP00000391677:p.Lys81Gln		Somatic				RASA2_ENST00000452898.1_Missense_Mutation_p.K81Q	p.K81Q			WXS	Illumina GAIIx	Phase_I	Q15283	RASA2_HUMAN			2	276	+			81			C2 1.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.241A>C		.	.	.	.	.	.	.	.	.	.	A	23.9	4.468870	0.84533	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.73152	-0.72;-0.72	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.117590	0.56097	D	0.000030	D	0.84897	0.5574	M	0.85945	2.785	0.53688	D	0.999976	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.969;0.982	D	0.87294	0.2301	10	0.66056	D	0.02	.	14.3518	0.66708	1.0:0.0:0.0:0.0	.	81;81;81	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	Q	81	ENSP00000286364:K81Q;ENSP00000391677:K81Q	ENSP00000286364:K81Q	K	+	1	0	RASA2	142713802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.749000	0.85096	2.033000	0.60031	0.533000	0.62120	AAA		0.284	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		18	21	0	0	0	1	0	18	21				
UMODL1	89766	broad.mit.edu	37	21	43543127	43543127	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr21:43543127G>A	ENST00000408910.2	+	17	3014	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H	UMODL1_ENST00000400427.1_Missense_Mutation_p.R1061H|UMODL1_ENST00000400424.2_Missense_Mutation_p.R933H|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1133H|UMODL1_ENST00000400423.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1005	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ATCCAGAAGCGCTTCCTGCAG	0.637																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2797-2799)cGc>cAc		uromodulin-like 1							86.0	93.0	90.0					21																	43543127		2175	4271	6446	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43543127G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3014G>A	21.37:g.43543127G>A	ENSP00000386147:p.Arg1005His		Somatic				UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.R1061H|UMODL1_ENST00000408989.2_Missense_Mutation_p.R1133H|UMODL1_ENST00000408910.2_Missense_Mutation_p.R1005H	p.R933H	NM_001199528.2	NP_001186457	WXS	Illumina GAIIx	Phase_I	Q5DID0	UROL1_HUMAN			17	3194	+						EGF-like 3; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2798G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618443	0.28801	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	3.13	-0.879	0.10613	Zona pellucida sperm-binding protein (3);	0.802743	0.10438	N	0.674606	T	0.69486	0.3116	L	0.31294	0.92	0.26420	N	0.976111	B;B	0.21688	0.059;0.039	B;B	0.12156	0.005;0.007	T	0.52071	-0.8624	9	.	.	.	-9.003	7.916	0.29818	0.4938:0.0:0.5062:0.0	.	1133;1005	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	H	1061;933;1133;1005	ENSP00000383279:R1061H;ENSP00000383276:R933H;ENSP00000386126:R1133H;ENSP00000386147:R1005H	.	R	+	2	0	UMODL1	42416196	0.013000	0.17824	0.995000	0.50966	0.959000	0.62525	-0.472000	0.06623	-0.199000	0.10317	0.313000	0.20887	CGC		0.637	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			11	21	0	0	0	1	0	11	21				
ACTRT2	140625	broad.mit.edu	37	1	2939192	2939192	+	Silent	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr1:2939192G>A	ENST00000378404.2	+	1	1147	c.942G>A	c.(940-942)cgG>cgA	p.R314R		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	314						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGGATGACCGGCTTCTCAAGG	0.607																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(940-942)cgG>cgA		actin-related protein T2							50.0	58.0	55.0					1																	2939192		2203	4299	6502	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2939192G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.942G>A	1.37:g.2939192G>A			Somatic					p.R314R	NM_080431.4	NP_536356.3	WXS	Illumina GAIIx	Phase_I	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1147	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	314					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.942G>A	CCDS45.1																																																																																				0.607	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		25	27	0	0	0	1	0	25	27				
CDH24	64403	broad.mit.edu	37	14	23522740	23522740	+	Silent	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr14:23522740G>A	ENST00000267383.5	-	6	1283	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	CDH24_ENST00000397359.3_Silent_p.S397S|CDH24_ENST00000554034.1_Silent_p.S397S|CDH24_ENST00000487137.2_Silent_p.S397S			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGTCAGCCGCGGAGATCTGGC	0.637																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1189-1191)tcC>tcT		cadherin 24, type 2							37.0	34.0	35.0					14																	23522740		2203	4300	6503	SO:0001819	synonymous_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23522740G>A	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1191C>T	14.37:g.23522740G>A			Somatic				CDH24_ENST00000554034.1_Silent_p.S397S|CDH24_ENST00000487137.2_Silent_p.S397S|CDH24_ENST00000267383.5_Silent_p.S397S	p.S397S	NM_022478.3	NP_071923.2	WXS	Illumina GAIIx	Phase_I	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	7	1450	-	all_cancers(95;3.3e-05)		397			Cadherin 4.		D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.1191C>T	CCDS9585.1																																																																																				0.637	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		14	9	0	0	0	1	0	14	9				
MYPOP	339344	broad.mit.edu	37	19	46393971	46393971	+	Silent	SNP	T	T	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr19:46393971T>G	ENST00000322217.5	-	3	1196	c.1110A>C	c.(1108-1110)ccA>ccC	p.P370P		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	370	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A371fs*>30(1)		large_intestine(2)|lung(1)|skin(1)	4						GGAGCGGGGCTGGGGGGGGCC	0.657																																						ENST00000322217.5																			1	Insertion - Frameshift(1)	p.A371fs*>30(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)	4						c.(1108-1110)ccA>ccC		Myb-related transcription factor, partner of profilin							6.0	8.0	8.0					19																	46393971		2078	4151	6229	SO:0001819	synonymous_variant	339344					nucleus	DNA binding	g.chr19:46393971T>G	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1110A>C	19.37:g.46393971T>G			Somatic					p.P370P	NM_001012643.2	NP_001012661.1	WXS	Illumina GAIIx	Phase_I	Q86VE0	MYPOP_HUMAN			3	1196	-			370			Pro-rich.			Silent	SNP	ENST00000322217.5	37	c.1110A>C	CCDS33055.1																																																																																				0.657	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		4	4	0	0	0	1	0	4	4				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		22	51	0	0	0	1	0	22	51				
IGF2BP1	10642	broad.mit.edu	37	17	47119660	47119660	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:47119660T>C	ENST00000290341.3	+	9	1332	c.998T>C	c.(997-999)aTc>aCc	p.I333T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I194T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	333	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGGGGCCATCGAGAATTGT	0.532																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(997-999)aTc>aCc		insulin-like growth factor 2 mRNA binding protein 1							118.0	116.0	117.0					17																	47119660		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47119660T>C	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.998T>C	17.37:g.47119660T>C	ENSP00000290341:p.Ile333Thr		Somatic				IGF2BP1_ENST00000431824.2_Missense_Mutation_p.I194T	p.I333T	NM_006546.3	NP_006537.3	WXS	Illumina GAIIx	Phase_I	Q9NZI8	IF2B1_HUMAN			9	1332	+			333			KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.998T>C	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597867	0.66332	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.28454	1.61;1.61	5.59	5.59	0.84812	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.136010	0.56097	D	0.000040	T	0.42223	0.1193	L	0.31157	0.91	0.80722	D	1	P;B	0.40180	0.705;0.18	P;B	0.58780	0.845;0.178	T	0.16394	-1.0404	10	0.33141	T	0.24	-16.2489	15.7197	0.77697	0.0:0.0:0.0:1.0	.	194;333	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	333;194	ENSP00000290341:I333T;ENSP00000389135:I194T	ENSP00000290341:I333T	I	+	2	0	IGF2BP1	44474659	0.999000	0.42202	0.988000	0.46212	0.972000	0.66771	5.056000	0.64287	2.231000	0.72958	0.533000	0.62120	ATC		0.532	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		6	97	0	0	0	1	0	6	97				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_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)	Somatic				HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R	p.Q78R			WXS	Illumina GAIIx	Phase_I	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		5	15	0	0	0	1	0	5	15				
HOXB8	3218	broad.mit.edu	37	17	46691904	46691904	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:46691904G>C	ENST00000239144.4	-	1	397	c.163C>G	c.(163-165)Cag>Gag	p.Q55E	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.Q55E	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	55					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						TAGAACTCCTGGATTTGCGAC	0.662																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(163-165)Cag>Gag		homeobox B8							21.0	23.0	22.0					17																	46691904		2200	4297	6497	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691904G>C		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.163C>G	17.37:g.46691904G>C	ENSP00000239144:p.Gln55Glu		Somatic				HOXB8_ENST00000576562.1_Missense_Mutation_p.Q55E|HOXB7_ENST00000567101.2_Intron	p.Q55E	NM_024016.3	NP_076921.1	WXS	Illumina GAIIx	Phase_I	P17481	HXB8_HUMAN			1	397	-			55					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.163C>G	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	14.31	2.496902	0.44352	.	.	ENSG00000120068	ENST00000239144	T	0.39592	1.07	2.71	2.71	0.32032	.	0.000000	0.56097	U	0.000030	T	0.52996	0.1769	M	0.81942	2.565	0.54753	D	0.999983	P	0.45715	0.865	P	0.54706	0.759	T	0.60209	-0.7308	10	0.02654	T	1	.	13.8138	0.63278	0.0:0.0:1.0:0.0	.	55	P17481	HXB8_HUMAN	E	55	ENSP00000239144:Q55E	ENSP00000239144:Q55E	Q	-	1	0	HOXB8	44046903	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.971000	0.93419	1.543000	0.49345	0.290000	0.19541	CAG		0.662	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			6	10	0	0	0	1	0	6	10				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu		Somatic				CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	p.K152E	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	52	0	0	0	1	0	3	52				
KRTAP9-3	83900	broad.mit.edu	37	17	39389143	39389143	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:39389143C>G	ENST00000411528.2	+	1	429	c.390C>G	c.(388-390)tgC>tgG	p.C130W		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	130	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCCCTGCTGCCGCCCAGCCT	0.582																																						ENST00000411528.2																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(388-390)tgC>tgG		keratin associated protein 9-3							105.0	129.0	121.0					17																	39389143		2101	4297	6398	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39389143C>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.390C>G	17.37:g.39389143C>G	ENSP00000392189:p.Cys130Trp		Somatic					p.C130W	NM_031962.2	NP_114168.1	WXS	Illumina GAIIx	Phase_I	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	429	+		Breast(137;0.000496)	130			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.390C>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	15.41	2.826248	0.50739	.	.	ENSG00000204873	ENST00000411528	T	0.02812	4.15	2.67	1.65	0.23941	.	.	.	.	.	T	0.11793	0.0287	M	0.89353	3.025	0.49687	D	0.999811	.	.	.	.	.	.	T	0.00482	-1.1713	7	0.87932	D	0	.	7.0931	0.25295	0.0:0.8388:0.0:0.1612	.	.	.	.	W	130	ENSP00000392189:C130W	ENSP00000392189:C130W	C	+	3	2	KRTAP9-3	36642669	0.271000	0.24162	0.586000	0.28679	0.470000	0.32858	1.211000	0.32382	0.404000	0.25506	0.194000	0.17425	TGC		0.582	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			29	15	0	0	0	1	0	29	15				
PROSER1	80209	broad.mit.edu	37	13	39608335	39608335	+	Splice_Site	SNP	T	T	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr13:39608335T>A	ENST00000352251.3	-	2	879		c.e2-2		PROSER1_ENST00000350125.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1																		CAAAACAGCCTAAAAAAAAAA	0.323																																						ENST00000352251.3																			0											c.e2-2		proline and serine rich 1							44.0	43.0	43.0					13																	39608335		1829	4077	5906	SO:0001630	splice_region_variant	80209							g.chr13:39608335T>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.46-2A>T	13.37:g.39608335T>A			Somatic				PROSER1_ENST00000350125.3_Intron		NM_025138.4	NP_079414.3	WXS	Illumina GAIIx	Phase_I	Q86XN7	CM023_HUMAN			2	879	-								A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Splice_Site	SNP	ENST00000352251.3	37		CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943160	0.73672	.	.	ENSG00000120685	ENST00000352251	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5595	0.76229	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PROSER1	38506335	1.000000	0.71417	0.979000	0.43373	0.883000	0.51084	5.397000	0.66302	2.261000	0.74972	0.477000	0.44152	.		0.323	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	Intron	3	27	0	0	0	1	0	3	27				
FASTK	10922	broad.mit.edu	37	7	150776028	150776028	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr7:150776028A>C	ENST00000297532.6	-	3	663	c.586T>G	c.(586-588)Ttg>Gtg	p.L196V	FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_5'UTR|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000353841.2_Missense_Mutation_p.L55V|FASTK_ENST00000482571.1_Missense_Mutation_p.L196V	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	196					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AGGGGCTGCAAAGGGGGAGGT	0.622																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(586-588)Ttg>Gtg		Fas-activated serine/threonine kinase							22.0	21.0	21.0					7																	150776028		2199	4295	6494	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150776028A>C		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.586T>G	7.37:g.150776028A>C	ENSP00000297532:p.Leu196Val		Somatic				FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.L55V|FASTK_ENST00000482571.1_Missense_Mutation_p.L196V	p.L196V	NM_006712.4	NP_006703.1	WXS	Illumina GAIIx	Phase_I	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	3	663	-			196					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.586T>G	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	A	6.926	0.540501	0.13250	.	.	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.33865	2.19;1.95;1.39	4.31	1.08	0.20341	.	1.099010	0.07232	N	0.862668	T	0.22205	0.0535	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.26547	0.152;0.039;0.039	B;B;B	0.29176	0.099;0.034;0.021	T	0.32214	-0.9915	10	0.51188	T	0.08	-30.2411	5.1637	0.15075	0.1336:0.0:0.6618:0.2046	.	196;55;196	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	V	196;196;55;196;196	ENSP00000324817:L55V;ENSP00000297532:L196V;ENSP00000418516:L196V	ENSP00000297530:L196V	L	-	1	2	FASTK	150406961	0.001000	0.12720	0.131000	0.22000	0.191000	0.23601	0.575000	0.23729	0.480000	0.27534	-0.261000	0.10672	TTG		0.622	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		5	7	0	0	0	1	0	5	7				
DEAF1	10522	broad.mit.edu	37	11	679783	679783	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr11:679783G>A	ENST00000382409.3	-	8	1515	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L|RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	344					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGTGCCCCCGAGGTCGTGAT	0.652																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1030-1032)tCg>tTg		DEAF1 transcription factor							65.0	58.0	60.0					11																	679783		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:679783G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.1031C>T	11.37:g.679783G>A	ENSP00000371846:p.Ser344Leu		Somatic				DEAF1_ENST00000338675.6_Missense_Mutation_p.S255L|DEAF1_ENST00000525904.1_5'UTR	p.S344L	NM_021008.2	NP_066288.2	WXS	Illumina GAIIx	Phase_I	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	8	1515	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	344					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.1031C>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328934	0.60743	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.69561	-0.41	3.37	3.37	0.38596	.	0.000000	0.64402	D	0.000004	T	0.59128	0.2171	L	0.34521	1.04	0.46954	D	0.999261	D	0.63046	0.992	P	0.45610	0.487	T	0.66752	-0.5844	10	0.66056	D	0.02	-14.6476	14.0456	0.64704	0.0:0.0:1.0:0.0	.	344	O75398	DEAF1_HUMAN	L	344;255;330;267	ENSP00000371846:S344L	ENSP00000341902:S255L	S	-	2	0	DEAF1	669783	1.000000	0.71417	0.838000	0.33150	0.153000	0.21895	8.737000	0.91562	1.909000	0.55274	0.460000	0.39030	TCG		0.652	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		7	13	0	0	0	1	0	7	13				
SRRM2	23524	broad.mit.edu	37	16	2818118	2818118	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr16:2818118G>A	ENST00000301740.8	+	11	8138	c.7589G>A	c.(7588-7590)cGg>cAg	p.R2530Q	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2530	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R2530Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAAAGGAGCGGCGGAGTtcc	0.632																																						ENST00000301740.8																			1	Substitution - Missense(1)	p.R2530Q(1)	pancreas(1)	breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7588-7590)cGg>cAg		serine/arginine repetitive matrix 2							53.0	48.0	50.0					16																	2818118		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2818118G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7589G>A	16.37:g.2818118G>A	ENSP00000301740:p.Arg2530Gln		Somatic				SRRM2_ENST00000574593.1_3'UTR	p.R2530Q	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	8138	+			2530			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7589G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767753	0.90020	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.77358	-1.09	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000029	T	0.80144	0.4569	N	0.19112	0.55	0.33018	D	0.528436	D	0.69078	0.997	D	0.70227	0.968	D	0.84048	0.0368	10	0.56958	D	0.05	-8.9045	15.8054	0.78501	0.0:0.0:1.0:0.0	.	2530	Q9UQ35	SRRM2_HUMAN	Q	2530;2112;1782	ENSP00000301740:R2530Q	ENSP00000301740:R2530Q	R	+	2	0	SRRM2	2758119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.739000	0.47409	2.808000	0.96608	0.655000	0.94253	CGG		0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	13	0	0	0	1	0	15	13				
RARG	5916	broad.mit.edu	37	12	53606945	53606945	+	Silent	SNP	G	G	C			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr12:53606945G>C	ENST00000425354.2	-	9	1588	c.1101C>G	c.(1099-1101)cgC>cgG	p.R367R	RARG_ENST00000543726.1_Silent_p.R345R|RARG_ENST00000394426.1_Silent_p.R367R|RARG_ENST00000338561.5_Silent_p.R356R|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Silent_p.R295R	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	367	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGGCCGCCGGCGCCGGGCGT	0.602											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1099-1101)cgC>cgG		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						48.0	47.0	48.0					12																	53606945		2203	4300	6503	SO:0001819	synonymous_variant	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53606945G>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1101C>G	12.37:g.53606945G>C			Somatic	OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000327550.3_Silent_p.R295R|RARG_ENST00000543726.1_Silent_p.R345R|RARG_ENST00000338561.5_Silent_p.R356R|RARG_ENST00000394426.1_Silent_p.R367R|RARG_ENST00000543762.1_5'UTR	p.R367R	NM_000966.5	NP_000957.1	WXS	Illumina GAIIx	Phase_I	P13631	RARG_HUMAN			9	1588	-			367			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Silent	SNP	ENST00000425354.2	37	c.1101C>G	CCDS8850.1																																																																																				0.602	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		22	23	0	0	0	1	0	22	23				
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(2185-2190)caccgg>cgg		pre-B-cell leukemia homeobox interacting protein 1				1,4265		0,1,2132						1.1	0.6			98	7,8247		1,5,4121	no	coding	PBXIP1	NM_020524.2		1,6,6253	A1A1,A1R,RR		0.0848,0.0234,0.0639				8,12512				SO:0001651	inframe_deletion	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154917508_154917510delGGT	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2186_2188delACC	1.37:g.154917517_154917519delGGT	ENSP00000357448:p.His729del		Somatic				PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del	p.H729del	NM_020524.2	NP_065385.2	WXS	Illumina GAIIx	Phase_I	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	2257_2259	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		729			His-rich.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	c.2186_2188delACC	CCDS1074.1																																																																																				0.640	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		7	61						7	61	---	---	---	---
KY	339855	broad.mit.edu	37	3	134343938	134343938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr3:134343938delA	ENST00000423778.2	-	6	501	c.440delT	c.(439-441)ctgfs	p.L147fs	KY_ENST00000503669.1_Frame_Shift_Del_p.L147fs|KY_ENST00000508041.1_5'UTR|KY_ENST00000508956.1_Frame_Shift_Del_p.L126fs	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	147					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGGTCCAGGGACATGGA	0.567																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(376-378)ctgfs		kyphoscoliosis peptidase							67.0	71.0	70.0					3																	134343938		2028	4195	6223	SO:0001589	frameshift_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134343938delA	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.440delT	3.37:g.134343938delA	ENSP00000397598:p.Leu147fs		Somatic				KY_ENST00000423778.2_Frame_Shift_Del_p.L147fs|KY_ENST00000503669.1_Frame_Shift_Del_p.L147fs|KY_ENST00000508041.1_5'UTR	p.L126fs			WXS	Illumina GAIIx	Phase_I	Q8NBH2	KY_HUMAN			5	434	-			147					B7Z1S4|Q6ZT15	Frame_Shift_Del	DEL	ENST00000423778.2	37	c.377delT	CCDS46920.1																																																																																				0.567	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		2	4						2	4	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97599676	97599678	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr6:97599676_97599678delTTC	ENST00000275053.4	-	23	3716_3718	c.3451_3453delGAA	c.(3451-3453)gaadel	p.E1151del	MMS22L_ENST00000369251.2_In_Frame_Del_p.E1111del	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1151					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGAGGAAGGTTCTTCTTCTGAC	0.438																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3451-3453)gaadel		MMS22-like, DNA repair protein																																				SO:0001651	inframe_deletion	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97599676_97599678delTTC		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3451_3453delGAA	6.37:g.97599682_97599684delTTC	ENSP00000275053:p.Glu1151del		Somatic				MMS22L_ENST00000369251.2_In_Frame_Del_p.E1111del	p.E1151del	NM_198468.2	NP_940870.2	WXS	Illumina GAIIx	Phase_I	Q6ZRQ5	MMS22_HUMAN			23	3716_3718	-			1151					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	In_Frame_Del	DEL	ENST00000275053.4	37	c.3451_3453delGAA	CCDS5039.1																																																																																				0.438	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		81	152						81	152	---	---	---	---
NUDT1	4521	broad.mit.edu	37	7	2284320	2284320	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr7:2284320delC	ENST00000397046.1	+	3	208	c.111delC	c.(109-111)ggcfs	p.G37fs	FTSJ2_ENST00000486040.1_5'Flank|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000397048.1_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000356714.1_Frame_Shift_Del_p.G37fs|FTSJ2_ENST00000242257.8_5'Flank|NUDT1_ENST00000397049.1_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000343985.4_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000339737.2_Frame_Shift_Del_p.G37fs	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	78					ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GCTTTGGGGGCAAAGTGCAAG	0.617								Modulation of nucleotide pools																														ENST00000397049.1																			0				large_intestine(3)|lung(8)|urinary_tract(1)	12						c.(178-180)ggcfs	Modulation of nucleotide pools	nudix (nucleoside diphosphate linked moiety X)-type motif 1							43.0	43.0	43.0					7																	2284320		2203	4300	6503	SO:0001589	frameshift_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2284320delC	D16581	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			ENSG00000106268	ENSG00000106268		"""Nudix motif containing"""	8048	protein-coding gene	gene with protein product	"""mutT human homolog 1"", ""nudix motif 1"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-dGTPase"", ""7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""nucleoside diphosphate-linked moiety X-type motif 1"""	600312		MTH1		7713494, 8226881	Standard	NM_002452		Approved		uc003slp.1	P36639	OTTHUMG00000023072	ENST00000397046.1:c.111delC	7.37:g.2284320delC	ENSP00000380239:p.Gly37fs		Somatic				NUDT1_ENST00000356714.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000397046.1_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000339737.2_Frame_Shift_Del_p.G37fs|NUDT1_ENST00000343985.4_Frame_Shift_Del_p.G60fs|NUDT1_ENST00000397048.1_Frame_Shift_Del_p.G60fs	p.G60fs	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	WXS	Illumina GAIIx	Phase_I	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	3	282	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	78			Nudix hydrolase.		A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Frame_Shift_Del	DEL	ENST00000397046.1	37	c.180delC	CCDS5330.1																																																																																				0.617	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206922.1	NM_002452		2	4						2	4	---	---	---	---
PROSER2	254427	broad.mit.edu	37	10	11911649	11911649	+	Frame_Shift_Del	DEL	C	C	-	rs559376073	byFrequency	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr10:11911649delC	ENST00000277570.5	+	4	706	c.552delC	c.(550-552)cacfs	p.H184fs	PROSER2_ENST00000379200.1_5'UTR|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	184	Pro-rich.																CGGTGGAGCACCCCAGACTCC	0.701																																						ENST00000277570.5																			0											c.(550-552)cacfs		proline and serine-rich protein 2							11.0	12.0	12.0					10																	11911649		2189	4288	6477	SO:0001589	frameshift_variant	254427							g.chr10:11911649delC	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.552delC	10.37:g.11911649delC	ENSP00000277570:p.His184fs		Somatic				PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2_ENST00000379200.1_5'UTR	p.H184fs	NM_153256.3	NP_694988.3	WXS	Illumina GAIIx	Phase_I					4	706	+								D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Frame_Shift_Del	DEL	ENST00000277570.5	37	c.552delC	CCDS7085.1																																																																																				0.701	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC			Somatic								WXS	Illumina GAIIx	Phase_I					0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	7						6	7	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28270612	28270612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:28270612delA	ENST00000394835.3	+	3	327	c.135delA	c.(133-135)gtafs	p.V45fs	EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.V45fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	45							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACGTTCCTGTAAAAGAGGACA	0.368																																						ENST00000394835.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(133-135)gtafs		EF-hand calcium binding domain 5							50.0	48.0	48.0					17																	28270612		1852	4095	5947	SO:0001589	frameshift_variant	374786						calcium ion binding	g.chr17:28270612delA	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.135delA	17.37:g.28270612delA	ENSP00000378312:p.Val45fs		Somatic				EFCAB5_ENST00000536908.2_5'UTR|EFCAB5_ENST00000320856.5_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.V45fs|EFCAB5_ENST00000534836.2_3'UTR	p.V45fs	NM_198529.3	NP_940931	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			3	327	+			45					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Frame_Shift_Del	DEL	ENST00000394835.3	37	c.135delA	CCDS11254.2																																																																																				0.368	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		2	4						2	4	---	---	---	---
SLC16A3	9123	broad.mit.edu	37	17	80195168	80195168	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr17:80195168delC	ENST00000581287.1	+	3	2844	c.522delC	c.(520-522)tacfs	p.Y174fs	SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.Y174fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	174					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	AGGACCGCTACGGCTGGCGGG	0.711																																					Pancreas(52;652 1135 19190 37282 52456)	ENST00000581287.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(520-522)tacfs		solute carrier family 16 (monocarboxylate transporter), member 3	Pyruvic acid(DB00119)						6.0	6.0	6.0					17																	80195168		2121	4174	6295	SO:0001589	frameshift_variant	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80195168delC	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.522delC	17.37:g.80195168delC	ENSP00000463978:p.Tyr174fs		Somatic				SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.Y174fs|SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.Y174fs	p.Y174fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	WXS	Illumina GAIIx	Phase_I	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		3	2844	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		174					B3KXG8|Q2M1P8	Frame_Shift_Del	DEL	ENST00000581287.1	37	c.522delC	CCDS11804.1																																																																																				0.711	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		2	4						2	4	---	---	---	---
BAIAP2L2	80115	broad.mit.edu	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	rs371997714|rs66500630|rs113792005|rs376182024|rs541462698|rs369923129|rs553799224	byFrequency	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENST00000381669.3	-	12	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc	p.IAPSEYWDGQSRSR441del	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	441					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674														708	0.141374	0.0272	0.2291	5008	,	,		20774	0.0565		0.1918	False		,,,				2504	0.2689					ENST00000381669.3																			0				large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8						c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc		BAI1-associated protein 2-like 2				138,3818		23,92,1863						2.2	0.8		dbSNP_130	20	1131,6525		291,549,2988	no	coding	BAIAP2L2	NM_025045.4		314,641,4851	A1A1,A1R,RR		14.7727,3.4884,10.9283				1269,10343				SO:0001651	inframe_deletion	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	22.37:g.38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENSP00000371085:p.Ile441_Arg454del		Somatic					p.IAPSEYWDGQSRSR441del	NM_025045.4	NP_079321.3	WXS	Illumina GAIIx	Phase_I	Q6UXY1	BI2L2_HUMAN			12	1466_1507	-	Melanoma(58;0.045)		441					B0QYE2|Q96BG7	In_Frame_Del	DEL	ENST00000381669.3	37	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	CCDS43018.1																																																																																				0.674	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		6	10						6	10	---	---	---	---
