#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MACF1	23499	broad.mit.edu	37	1	39853372	39853372	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:39853372A>G	ENST00000372915.3	+	57	14960	c.14873A>G	c.(14872-14874)gAg>gGg	p.E4958G	MACF1_ENST00000539005.1_Missense_Mutation_p.E2870G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2891G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4990G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3393G|MACF1_ENST00000361689.2_Missense_Mutation_p.E2891G|MACF1_ENST00000317713.7_Missense_Mutation_p.E2891G|MACF1_ENST00000564288.1_Missense_Mutation_p.E4953G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4958					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATGAGGTGGAGAAGCGCCGC	0.483																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(14857-14859)gAg>gGg		microtubule-actin crosslinking factor 1							51.0	53.0	52.0					1																	39853372		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853372A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14873A>G	1.37:g.39853372A>G	ENSP00000362006:p.Glu4958Gly		Somatic				MACF1_ENST00000317713.7_Missense_Mutation_p.E2891G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4990G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3393G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2891G|MACF1_ENST00000361689.2_Missense_Mutation_p.E2891G|MACF1_ENST00000372915.3_Missense_Mutation_p.E4958G|MACF1_ENST00000539005.1_Missense_Mutation_p.E2870G	p.E4953G			WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	15635	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4958					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14858A>G		.	.	.	.	.	.	.	.	.	.	A	18.38	3.611666	0.66558	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000005	T	0.60547	0.2277	L	0.54323	1.7	0.80722	D	1	D;P;P	0.60160	0.987;0.916;0.843	P;P;P	0.59424	0.857;0.62;0.62	T	0.55373	-0.8151	10	0.29301	T	0.29	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	4958;2891;2835	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	G	2891;4958;2891;2891;2870;3393	ENSP00000439537:E2891G;ENSP00000362006:E4958G;ENSP00000354573:E2891G;ENSP00000313438:E2891G;ENSP00000444364:E2870G;ENSP00000289893:E3393G	ENSP00000289893:E3393G	E	+	2	0	MACF1	39625959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAG		0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	24	7	24	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63027353	63027353	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:63027353A>T	ENST00000340370.5	-	19	2151	c.2134T>A	c.(2134-2136)Tgg>Agg	p.W712R	DOCK7_ENST00000251157.5_Missense_Mutation_p.W712R	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	712	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTATCTACCCATTTCATGCCA	0.289																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(2134-2136)Tgg>Agg		dedicator of cytokinesis 7							65.0	71.0	69.0					1																	63027353		2203	4295	6498	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63027353A>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2134T>A	1.37:g.63027353A>T	ENSP00000340742:p.Trp712Arg		Somatic				DOCK7_ENST00000340370.5_Missense_Mutation_p.W712R	p.W712R	NM_001271999.1	NP_001258928.1	WXS	Illumina GAIIx	Phase_I	Q96N67	DOCK7_HUMAN			19	2167	-			712			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2134T>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308675	0.81247	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.33654	1.4;1.4	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.67325	0.2881	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.76329	-0.2999	10	0.87932	D	0	.	14.6036	0.68460	1.0:0.0:0.0:0.0	.	712;712;712;712	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	R	712	ENSP00000251157:W712R;ENSP00000340742:W712R	ENSP00000251157:W712R	W	-	1	0	DOCK7	62799941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.111000	0.64477	0.477000	0.44152	TGG		0.289	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		14	59	14	59	---	---	---	---
DEPDC1	55635	broad.mit.edu	37	1	68947142	68947142	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:68947142G>A	ENST00000456315.2	-	9	2030	c.1916C>T	c.(1915-1917)gCa>gTa	p.A639V	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.A355V	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	639	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CGTACCCATTGCATCATGAAG	0.353																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1915-1917)gCa>gTa		DEP domain containing 1							81.0	75.0	77.0					1																	68947142		2203	4300	6503	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947142G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1916C>T	1.37:g.68947142G>A	ENSP00000412292:p.Ala639Val		Somatic				DEPDC1_ENST00000370966.5_Missense_Mutation_p.A355V|RP4-694A7.2_ENST00000425820.1_RNA	p.A639V	NM_001114120.1	NP_001107592.1	WXS	Illumina GAIIx	Phase_I	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	9	2030	-			639			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1916C>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834718	0.32421	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.42131	0.98;0.98	5.72	2.75	0.32379	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.250811	0.46442	N	0.000296	T	0.13114	0.0318	L	0.41027	1.25	0.25209	N	0.989991	B;B	0.29571	0.249;0.001	B;B	0.28784	0.094;0.002	T	0.12372	-1.0550	10	0.32370	T	0.25	-0.0047	6.8595	0.24060	0.1993:0.0:0.6739:0.1267	.	639;355	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	V	639;355	ENSP00000412292:A639V;ENSP00000360005:A355V	ENSP00000360005:A355V	A	-	2	0	DEPDC1	68719730	0.999000	0.42202	0.996000	0.52242	0.971000	0.66376	2.999000	0.49473	0.722000	0.32252	0.655000	0.94253	GCA		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		3	55	3	55	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	135965348	135965348	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr2:135965348C>A	ENST00000264159.6	-	19	2781	c.2665G>T	c.(2665-2667)Gat>Tat	p.D889Y	ZRANB3_ENST00000536680.1_Missense_Mutation_p.D887Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.D887Y	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	889					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		ACAGTGAGATCTGCCTGGACT	0.423																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2659-2661)Gat>Tat		zinc finger, RAN-binding domain containing 3							103.0	97.0	99.0					2																	135965348		1938	4141	6079	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965348C>A	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2665G>T	2.37:g.135965348C>A	ENSP00000264159:p.Asp889Tyr		Somatic				ZRANB3_ENST00000536680.1_Missense_Mutation_p.D887Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.D889Y	p.D887Y			WXS	Illumina GAIIx	Phase_I	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	2871	-			889					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2659G>T	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753322	0.49362	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91407	-2.84;-2.84;-2.83	6.03	5.15	0.70609	.	0.760681	0.13163	N	0.408903	D	0.91171	0.7219	M	0.63428	1.95	0.24784	N	0.992794	B;P	0.34462	0.325;0.454	B;B	0.38616	0.143;0.277	D	0.85343	0.1097	10	0.72032	D	0.01	-15.9688	17.2362	0.86999	0.0:0.8741:0.1259:0.0	.	889;887	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Y	352;352;887;889;887	ENSP00000383979:D887Y;ENSP00000264159:D889Y;ENSP00000441320:D887Y	ENSP00000264159:D889Y	D	-	1	0	ZRANB3	135681818	0.075000	0.21258	0.275000	0.24674	0.021000	0.10359	2.318000	0.43779	1.574000	0.49760	-0.122000	0.15005	GAT		0.423	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		4	47	4	47	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018025	87018025	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr3:87018025A>G	ENST00000398399.2	-	3	1015	c.652T>C	c.(652-654)Tcc>Ccc	p.S218P	VGLL3_ENST00000383698.3_Missense_Mutation_p.S218P	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGCTGTAGGATGGGCTCACC	0.607																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(652-654)Tcc>Ccc		vestigial like 3 (Drosophila)							86.0	90.0	89.0					3																	87018025		2164	4272	6436	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018025A>G	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.652T>C	3.37:g.87018025A>G	ENSP00000381436:p.Ser218Pro		Somatic				VGLL3_ENST00000383698.3_Missense_Mutation_p.S218P	p.S218P	NM_016206.2	NP_057290.2	WXS	Illumina GAIIx	Phase_I	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	1015	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	218						Missense_Mutation	SNP	ENST00000398399.2	37	c.652T>C	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.79|10.79	1.450550|1.450550	0.26074|0.26074	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|T;T	.|0.47869	.|0.83;0.84	5.81|5.81	4.65|4.65	0.58169|0.58169	.|.	.|0.289185	.|0.27917	.|N	.|0.017325	T|T	0.31606|0.31606	0.0802|0.0802	N|N	0.22421|0.22421	0.69|0.69	0.29166|0.29166	N|N	0.877463|0.877463	.|B	.|0.10296	.|0.003	.|B	.|0.08055	.|0.003	T|T	0.17837|0.17837	-1.0356|-1.0356	5|10	.|0.35671	.|T	.|0.21	-6.9328|-6.9328	8.7059|8.7059	0.34354|0.34354	0.8521:0.0:0.1479:0.0|0.8521:0.0:0.1479:0.0	.|.	.|218	.|A8MV65	.|VGLL3_HUMAN	T|P	151|218	.|ENSP00000381436:S218P;ENSP00000373199:S218P	.|ENSP00000373199:S218P	I|S	-|-	2|1	0|0	VGLL3|VGLL3	87100715|87100715	0.929000|0.929000	0.31497|0.31497	0.988000|0.988000	0.46212|0.46212	0.989000|0.989000	0.77384|0.77384	1.361000|1.361000	0.34136|0.34136	1.029000|1.029000	0.39812|0.39812	0.418000|0.418000	0.28097|0.28097	ATC|TCC		0.607	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		8	48	8	48	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65322164	65322164	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:65322164T>C	ENST00000284037.5	+	13	1444	c.1055T>C	c.(1054-1056)cTc>cCc	p.L352P	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L352P	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	352					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GTGCTGTTTCTCCATTCCAAT	0.303																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(1054-1056)cTc>cCc		erbb2 interacting protein							74.0	79.0	77.0					5																	65322164		2203	4293	6496	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65322164T>C		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1055T>C	5.37:g.65322164T>C	ENSP00000284037:p.Leu352Pro		Somatic				ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L352P	p.L352P	NM_001253697.1	NP_001240626.1	WXS	Illumina GAIIx	Phase_I	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	13	1444	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	352					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.1055T>C	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244709	0.79912	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	H	0.95437	3.67	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.97110	0.996;0.994;0.995;1.0;0.987;1.0;0.993;0.987	D	0.92988	0.6412	10	0.87932	D	0	.	14.8798	0.70522	0.0:0.0:0.0:1.0	.	352;352;352;352;352;352;352;352	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	P	352	ENSP00000284037:L352P;ENSP00000370330:L352P;ENSP00000397833:L352P;ENSP00000370326:L352P;ENSP00000370323:L352P;ENSP00000370322:L352P;ENSP00000370325:L352P;ENSP00000422766:L352P;ENSP00000426632:L352P;ENSP00000422015:L352P	ENSP00000284037:L352P	L	+	2	0	ERBB2IP	65357920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.975000	0.57531	0.533000	0.62120	CTC		0.303	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		12	46	12	46	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140723618	140723618	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:140723618T>A	ENST00000253812.6	+	1	18	c.18T>A	c.(16-18)agT>agA	p.S6R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTGAGTTTCCGAAATG	0.522											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(16-18)agT>agA									120.0	128.0	126.0					5																	140723618		2025	4210	6235	SO:0001583	missense	56112							g.chr5:140723618T>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.18T>A	5.37:g.140723618T>A	ENSP00000253812:p.Ser6Arg		Somatic	OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.S6R	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	18	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.18T>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	3.055	-0.194423	0.06259	.	.	ENSG00000254245	ENST00000253812	T	0.47528	0.84	5.21	-1.4	0.08968	.	.	.	.	.	T	0.08403	0.0209	N	0.00150	-1.985	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34576	-0.9823	9	0.02654	T	1	.	2.3206	0.04209	0.3269:0.1382:0.3901:0.1448	.	6;6	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	R	6	ENSP00000253812:S6R	ENSP00000253812:S6R	S	+	3	2	PCDHGA3	140703802	0.001000	0.12720	0.000000	0.03702	0.079000	0.17450	0.746000	0.26275	-0.169000	0.10834	-1.142000	0.01873	AGT		0.522	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		33	86	33	86	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55120018	55120018	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:55120018A>G	ENST00000370862.3	+	3	823	c.487A>G	c.(487-489)Aag>Gag	p.K163E		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	163					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTGATGTTTAAGAGCACAGC	0.493																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(487-489)Aag>Gag		hypocretin (orexin) receptor 2							166.0	139.0	148.0					6																	55120018		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55120018A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.487A>G	6.37:g.55120018A>G	ENSP00000359899:p.Lys163Glu		Somatic					p.K163E	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	823	+	Lung NSC(77;0.107)|Renal(3;0.122)		163					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.487A>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.984364	0.93044	.	.	ENSG00000137252	ENST00000370862	T	0.19669	2.13	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.094715	0.64402	D	0.000001	T	0.42449	0.1203	M	0.84511	2.7	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79108	0.978;0.992	T	0.52586	-0.8556	10	0.87932	D	0	.	14.7876	0.69816	1.0:0.0:0.0:0.0	.	163;163	Q548Y0;O43614	.;OX2R_HUMAN	E	163	ENSP00000359899:K163E	ENSP00000359899:K163E	K	+	1	0	HCRTR2	55227977	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	1.900000	0.55004	0.397000	0.26171	AAG		0.493	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			9	51	9	51	---	---	---	---
AMD1	262	broad.mit.edu	37	6	111210071	111210071	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:111210071T>G	ENST00000368885.3	+	3	545	c.209T>G	c.(208-210)aTg>aGg	p.M70R	AMD1_ENST00000368877.5_Missense_Mutation_p.M41R|AMD1_ENST00000368876.1_Start_Codon_SNP_p.M1R|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000451850.2_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	70					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GAGAGTAGCATGTTTGTCTCC	0.388																																						ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(208-210)aTg>aGg		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						92.0	89.0	90.0					6																	111210071		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111210071T>G	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.209T>G	6.37:g.111210071T>G	ENSP00000357880:p.Met70Arg		Somatic				AMD1_ENST00000368876.1_Start_Codon_SNP_p.M1R|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.M41R|AMD1_ENST00000451850.2_Intron	p.M70R	NM_001634.4	NP_001625.2	WXS	Illumina GAIIx	Phase_I	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	3	545	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	70					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.209T>G	CCDS5086.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335333	0.81801	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.55	5.55	0.83447	S-adenosylmethionine decarboxylase, core (2);S-adenosylmethionine decarboxylase, conserved site (1);	0.072279	0.85682	D	0.000000	T	0.81692	0.4876	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	D	0.85897	0.1432	9	0.87932	D	0	.	15.6973	0.77509	0.0:0.0:0.0:1.0	.	41;70	A6NNH3;P17707	.;DCAM_HUMAN	R	70;41;1	.	ENSP00000357870:M1R	M	+	2	0	AMD1	111316764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.608000	0.82898	2.110000	0.64415	0.482000	0.46254	ATG		0.388	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			18	57	18	57	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146242326	146242326	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr6:146242326C>T	ENST00000367505.2	-	21	4249	c.3985G>A	c.(3985-3987)Gaa>Aaa	p.E1329K	SHPRH_ENST00000275233.7_Missense_Mutation_p.E1329K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1333K|SHPRH_ENST00000367503.3_Missense_Mutation_p.E1333K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1329					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCCATGCTTCAAAGAGATCC	0.303																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(3997-3999)Gaa>Aaa		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							104.0	91.0	95.0					6																	146242326		1823	4082	5905	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146242326C>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3985G>A	6.37:g.146242326C>T	ENSP00000356475:p.Glu1329Lys		Somatic				SHPRH_ENST00000275233.7_Missense_Mutation_p.E1329K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1333K|SHPRH_ENST00000367505.2_Missense_Mutation_p.E1329K	p.E1333K	NM_001042683.2	NP_001036148.2	WXS	Illumina GAIIx	Phase_I	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	21	4395	-		Ovarian(120;0.0365)	1329					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3997G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	36	5.763089	0.96906	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.77620	-1.09;-1.1;-1.11;-1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	L	0.55481	1.735	0.80722	D	1	P;D;D	0.63046	0.595;0.986;0.992	B;P;P	0.60415	0.192;0.751;0.874	T	0.78907	-0.2019	10	0.39692	T	0.17	-26.7871	20.1099	0.97909	0.0:1.0:0.0:0.0	.	528;1329;1333	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	K	1329;1333;1333;1329	ENSP00000356475:E1329K;ENSP00000356473:E1333K;ENSP00000412797:E1333K;ENSP00000275233:E1329K	ENSP00000275233:E1329K	E	-	1	0	SHPRH	146284019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.753000	0.94483	0.585000	0.79938	GAA		0.303	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		4	17	4	17	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103908	53103908	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr7:53103908C>A	ENST00000408890.4	+	1	560	c.544C>A	c.(544-546)Ctc>Atc	p.L182I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	182										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCTGGGGGCGCTCAGCCAGTG	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(544-546)Ctc>Atc		POM121 transmembrane nucleoporin-like 12							29.0	34.0	33.0					7																	53103908		1908	4115	6023	SO:0001583	missense	285877							g.chr7:53103908C>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.544C>A	7.37:g.53103908C>A	ENSP00000386133:p.Leu182Ile		Somatic					p.L182I	NM_182595.3	NP_872401.3	WXS	Illumina GAIIx	Phase_I	Q8N7R1	P1L12_HUMAN			1	560	+			182					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.544C>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199225	0.38806	.	.	ENSG00000221900	ENST00000408890	T	0.54071	0.59	2.21	1.32	0.21799	.	.	.	.	.	T	0.61702	0.2368	L	0.54323	1.7	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.47394	-0.9121	9	0.87932	D	0	.	4.8079	0.13329	0.0:0.8192:0.0:0.1808	.	182	Q8N7R1	P1L12_HUMAN	I	182	ENSP00000386133:L182I	ENSP00000386133:L182I	L	+	1	0	POM121L12	53071402	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.117000	0.10708	0.500000	0.27991	0.561000	0.74099	CTC		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		9	23	9	23	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	79082369	79082369	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr7:79082369T>C	ENST00000354212.4	-	1	521	c.268A>G	c.(268-270)Aag>Gag	p.K90E	MAGI2_ENST00000522391.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000424477.1_RNA|MAGI2-AS3_ENST00000422093.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000414797.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2-AS3_ENST00000448195.1_RNA|MAGI2-AS3_ENST00000451809.1_RNA|MAGI2-AS3_ENST00000446159.1_RNA	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	90	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGGGGTCCTTGCAGTGTTTG	0.637																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(268-270)Aag>Gag		membrane associated guanylate kinase, WW and PDZ domain containing 2							50.0	54.0	52.0					7																	79082369		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:79082369T>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.268A>G	7.37:g.79082369T>C	ENSP00000346151:p.Lys90Glu		Somatic				MAGI2_ENST00000419488.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.K90E	p.K90E	NM_012301.3	NP_036433.2	WXS	Illumina GAIIx	Phase_I	Q86UL8	MAGI2_HUMAN			1	521	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	90			PDZ 1.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.268A>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711102	0.89112	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.30182	1.54;1.54;1.54	5.39	5.39	0.77823	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.46483	0.1395	L	0.56199	1.76	0.80722	D	1	D;P	0.63046	0.992;0.928	P;B	0.58780	0.845;0.371	T	0.46289	-0.9202	9	0.72032	D	0.01	.	14.5672	0.68185	0.0:0.0:0.0:1.0	.	90;90	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	E	90	ENSP00000405766:K90E;ENSP00000346151:K90E;ENSP00000428389:K90E	ENSP00000346151:K90E	K	-	1	0	MAGI2	78920305	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.138000	0.71717	2.033000	0.60031	0.402000	0.26972	AAG		0.637	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		9	49	9	49	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113267582	113267582	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr8:113267582C>A	ENST00000297405.5	-	62	10181	c.9937G>T	c.(9937-9939)Gtt>Ttt	p.V3313F	CSMD3_ENST00000352409.3_Missense_Mutation_p.V3243F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V3144F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3273F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3313	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGAATGAAACCTCTGACTGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9937-9939)Gtt>Ttt		CUB and Sushi multiple domains 3							136.0	122.0	127.0					8																	113267582		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113267582C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9937G>T	8.37:g.113267582C>A	ENSP00000297405:p.Val3313Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000455883.2_Missense_Mutation_p.V3144F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3243F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3273F	p.V3313F	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			62	10181	-			3313			Sushi 26.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9937G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	c	17.20	3.330019	0.60743	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.19	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	0.086699	0.46145	D	0.000309	D	0.86669	0.5988	M	0.91300	3.195	0.43632	D	0.996024	D;P;P	0.89917	1.0;0.934;0.587	D;P;B	0.91635	0.999;0.794;0.188	D	0.89751	0.3940	10	0.87932	D	0	.	14.1557	0.65417	0.0:0.9284:0.0:0.0716	.	3144;3313;3273	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	3273;3313;2583;3144;3243	ENSP00000345799:V3273F;ENSP00000297405:V3313F;ENSP00000341558:V2583F;ENSP00000412263:V3144F;ENSP00000343124:V3243F	ENSP00000297405:V3313F	V	-	1	0	CSMD3	113336758	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	4.779000	0.62375	1.442000	0.47568	-0.127000	0.14921	GTT		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		33	36	33	36	---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120865380	120865380	+	Silent	SNP	T	T	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr8:120865380T>C	ENST00000313655.4	-	2	472	c.258A>G	c.(256-258)gcA>gcG	p.A86A		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	86					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGAAGTGTCTGCTATCTTCA	0.408																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(256-258)gcA>gcG		DNA replication and sister chromatid cohesion 1							177.0	157.0	164.0					8																	120865380		2203	4300	6503	SO:0001819	synonymous_variant	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120865380T>C		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.258A>G	8.37:g.120865380T>C			Somatic					p.A86A	NM_024094.2	NP_076999.2	WXS	Illumina GAIIx	Phase_I	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	472	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		86					Q969N5	Silent	SNP	ENST00000313655.4	37	c.258A>G	CCDS6330.1																																																																																				0.408	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		13	92	13	92	---	---	---	---
GPR107	57720	broad.mit.edu	37	9	132853235	132853235	+	Silent	SNP	A	A	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr9:132853235A>C	ENST00000372406.1	+	8	1209	c.702A>C	c.(700-702)ccA>ccC	p.P234P	GPR107_ENST00000372410.3_Silent_p.P234P|GPR107_ENST00000347136.6_Silent_p.P234P	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	234						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AAGAATTGCCAAGTGACAAGT	0.358																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(700-702)ccA>ccC		G protein-coupled receptor 107							97.0	80.0	86.0					9																	132853235		2202	4300	6502	SO:0001819	synonymous_variant	57720					integral to membrane		g.chr9:132853235A>C	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.702A>C	9.37:g.132853235A>C			Somatic				GPR107_ENST00000372410.3_Silent_p.P234P|GPR107_ENST00000347136.6_Silent_p.P234P	p.P234P	NM_001136557.1	NP_001130029.1	WXS	Illumina GAIIx	Phase_I	Q5VW38	GP107_HUMAN			8	1209	+		Ovarian(14;0.000531)	234					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	c.702A>C	CCDS48041.1																																																																																				0.358	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			7	30	7	30	---	---	---	---
C9orf139	401563	broad.mit.edu	37	9	139929144	139929144	+	Missense_Mutation	SNP	C	C	A	rs535490102		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr9:139929144C>A	ENST00000314330.2	+	3	1725	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	71										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGTCCTGCCACGCCTGCGGGT	0.657																																						ENST00000314330.2																			0				cervix(1)|lung(2)	3						c.(211-213)Cgc>Agc		chromosome 9 open reading frame 139							42.0	50.0	47.0					9																	139929144		2201	4287	6488	SO:0001583	missense	401563							g.chr9:139929144C>A		CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.211C>A	9.37:g.139929144C>A	ENSP00000318119:p.Arg71Ser		Somatic					p.R71S	NM_207511.1	NP_997394.1	WXS	Illumina GAIIx	Phase_I	Q6ZV77	CI139_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)	3	1725	+	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	71					A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	ENST00000314330.2	37	c.211C>A	CCDS7023.1	.	.	.	.	.	.	.	.	.	.	c	4.262	0.047705	0.08243	.	.	ENSG00000180539	ENST00000314330	T	0.55588	0.51	1.68	0.75	0.18387	.	.	.	.	.	T	0.25195	0.0612	N	0.08118	0	0.09310	N	1	B	0.33413	0.411	B	0.28305	0.088	T	0.11470	-1.0586	9	0.37606	T	0.19	.	4.0241	0.09678	0.0:0.7739:0.0:0.2261	.	71	Q6ZV77	CI139_HUMAN	S	71	ENSP00000318119:R71S	ENSP00000318119:R71S	R	+	1	0	C9orf139	139048965	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.354000	0.20146	0.271000	0.22005	0.290000	0.19541	CGC		0.657	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055213.2	NM_207511		21	67	21	67	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21169734	21169734	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr10:21169734G>A	ENST00000377122.4	-	5	865	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H157Y|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	157					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTACTCTGGTGTTTATTGACC	0.403																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(469-471)Cac>Tac		nebulette							132.0	133.0	133.0					10																	21169734		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21169734G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.469C>T	10.37:g.21169734G>A	ENSP00000366326:p.His157Tyr		Somatic				NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H157Y|NEBL_ENST00000417816.2_Intron	p.H157Y	NM_006393.2	NP_006384.1	WXS	Illumina GAIIx	Phase_I	O76041	NEBL_HUMAN			5	865	-			157					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.469C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214098	0.39102	.	.	ENSG00000078114	ENST00000377122;ENST00000377119	T;T	0.16196	3.56;2.36	5.8	2.98	0.34508	.	0.331465	0.33515	N	0.004826	T	0.09774	0.0240	L	0.38838	1.175	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.22487	-1.0215	10	0.02654	T	1	.	6.3427	0.21332	0.2651:0.0:0.6155:0.1194	.	157	O76041	NEBL_HUMAN	Y	157	ENSP00000366326:H157Y;ENSP00000366323:H157Y	ENSP00000366323:H157Y	H	-	1	0	NEBL	21209740	1.000000	0.71417	0.447000	0.26932	0.998000	0.95712	1.269000	0.33074	0.382000	0.24878	0.563000	0.77884	CAC		0.403	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		7	59	7	59	---	---	---	---
C10orf11	83938	broad.mit.edu	37	10	77806998	77806998	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr10:77806998A>C	ENST00000372499.1	+	3	466	c.251A>C	c.(250-252)aAc>aCc	p.N84T	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	84					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CTGCTGGGCAACGTGGCCTGT	0.517																																						ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(250-252)aAc>aCc		chromosome 10 open reading frame 11							107.0	97.0	100.0					10																	77806998		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77806998A>C	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.251A>C	10.37:g.77806998A>C	ENSP00000361577:p.Asn84Thr		Somatic				C10orf11_ENST00000593699.1_3'UTR	p.N84T	NM_032024.3	NP_114413.1	WXS	Illumina GAIIx	Phase_I	Q9H2I8	CJ011_HUMAN			3	466	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		84					B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.251A>C	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611965	0.87258	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.56611	0.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	H	0.96889	3.9	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.88156	0.2854	10	0.72032	D	0.01	-14.8538	16.6406	0.85098	1.0:0.0:0.0:0.0	.	84	Q9H2I8	CJ011_HUMAN	T	112;84	ENSP00000361577:N84T	ENSP00000346310:N112T	N	+	2	0	C10orf11	77477004	1.000000	0.71417	0.620000	0.29132	0.994000	0.84299	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	AAC		0.517	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		9	55	9	55	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5013446	5013446	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:5013446G>C	ENST00000380390.1	+	7	976	c.760G>C	c.(760-762)Gaa>Caa	p.E254Q	MMP26_ENST00000300762.1_Missense_Mutation_p.E254Q			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	254					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	TTCCATAGGAGAAAAATGTTC	0.383																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(760-762)Gaa>Caa		matrix metallopeptidase 26							90.0	75.0	80.0					11																	5013446		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013446G>C	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.760G>C	11.37:g.5013446G>C	ENSP00000369753:p.Glu254Gln		Somatic				MMP26_ENST00000300762.1_Missense_Mutation_p.E254Q	p.E254Q			WXS	Illumina GAIIx	Phase_I	Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	7	976	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	254					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.760G>C	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	3.576	-0.086634	0.07097	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.50001	0.76;0.76	2.52	-0.548	0.11833	Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	1.778320	0.04117	U	0.315664	T	0.31451	0.0797	L	0.33792	1.035	0.09310	N	1	B	0.30584	0.286	B	0.19148	0.024	T	0.13442	-1.0509	10	0.40728	T	0.16	-0.0036	3.0263	0.06092	0.2915:0.235:0.4735:0.0	.	254	Q9NRE1	MMP26_HUMAN	Q	254	ENSP00000369753:E254Q;ENSP00000300762:E254Q	ENSP00000300762:E254Q	E	+	1	0	MMP26	4970022	0.895000	0.30542	0.179000	0.23059	0.045000	0.14185	0.279000	0.18771	-0.124000	0.11724	0.491000	0.48974	GAA		0.383	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		8	35	8	35	---	---	---	---
PRMT3	10196	broad.mit.edu	37	11	20424497	20424497	+	Silent	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:20424497C>T	ENST00000331079.6	+	8	955	c.738C>T	c.(736-738)ttC>ttT	p.F246F	PRMT3_ENST00000437750.2_Silent_p.F184F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	246	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACCGAGATTTCATATACCAAA	0.353																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(736-738)ttC>ttT		protein arginine methyltransferase 3							144.0	151.0	148.0					11																	20424497		2203	4300	6503	SO:0001819	synonymous_variant	10196						zinc ion binding	g.chr11:20424497C>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.738C>T	11.37:g.20424497C>T			Somatic				PRMT3_ENST00000437750.2_Silent_p.F184F	p.F246F	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	WXS	Illumina GAIIx	Phase_I	O60678	ANM3_HUMAN			8	955	+			246					B4DUC7	Silent	SNP	ENST00000331079.6	37	c.738C>T	CCDS7853.1																																																																																				0.353	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		24	53	24	53	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65271416	65271416	+	lincRNA	SNP	T	T	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:65271416T>G	ENST00000534336.1	+	0	6184					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATTACACATTTTATTTCCAGA	0.333																																						ENST00000534336.1																			0																				24.0	25.0	24.0					11																	65271416		874	1988	2862			378938							g.chr11:65271416T>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271416T>G			Somatic						NR_002819.2		WXS	Illumina GAIIx	Phase_I					0	6184	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.333	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		5	11	5	11	---	---	---	---
TCIRG1	10312	broad.mit.edu	37	11	67818000	67818000	+	Silent	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:67818000C>T	ENST00000265686.3	+	19	2391	c.2283C>T	c.(2281-2283)ggC>ggT	p.G761G	TCIRG1_ENST00000530802.1_Intron|CHKA_ENST00000533728.1_5'Flank|TCIRG1_ENST00000532635.1_Silent_p.G545G|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	761					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TAGGCCTGGGCCTGGGCCGGG	0.657																																						ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(2281-2283)ggC>ggT		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							104.0	118.0	113.0					11																	67818000		2200	4293	6493	SO:0001819	synonymous_variant	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67818000C>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2283C>T	11.37:g.67818000C>T			Somatic				TCIRG1_ENST00000532635.1_Silent_p.G545G|TCIRG1_ENST00000530802.1_Intron	p.G761G	NM_006019.3	NP_006010.2	WXS	Illumina GAIIx	Phase_I	Q13488	VPP3_HUMAN			19	2391	+			761					O75877|Q8WVC5	Silent	SNP	ENST00000265686.3	37	c.2283C>T	CCDS8177.1																																																																																				0.657	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		17	126	17	126	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118514553	118514553	+	Silent	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr11:118514553C>T	ENST00000361417.2	+	15	3324	c.2913C>T	c.(2911-2913)agC>agT	p.S971S	PHLDB1_ENST00000524713.1_Silent_p.S114S|PHLDB1_ENST00000356063.5_Silent_p.S924S|PHLDB1_ENST00000527898.1_Silent_p.S7S|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	971										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCACCAGCCCCCTTCCCC	0.662																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2911-2913)agC>agT		pleckstrin homology-like domain, family B, member 1							56.0	63.0	61.0					11																	118514553		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118514553C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2913C>T	11.37:g.118514553C>T			Somatic				PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.S7S|PHLDB1_ENST00000356063.5_Silent_p.S924S|PHLDB1_ENST00000524713.1_Silent_p.S114S	p.S971S	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	15	3324	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	971					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.2913C>T	CCDS8401.1																																																																																				0.662	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		13	26	13	26	---	---	---	---
KIAA1467	57613	broad.mit.edu	37	12	13215818	13215818	+	Missense_Mutation	SNP	A	A	C	rs371903376		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:13215818A>C	ENST00000197268.8	+	5	881	c.761A>C	c.(760-762)aAc>aCc	p.N254T		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	254						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TACTTGTCCAACGGTACCTTG	0.493																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(760-762)aAc>aCc		KIAA1467							247.0	227.0	234.0					12																	13215818		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13215818A>C	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.761A>C	12.37:g.13215818A>C	ENSP00000197268:p.Asn254Thr		Somatic					p.N254T	NM_020853.1	NP_065904.1	WXS	Illumina GAIIx	Phase_I	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	5	881	+		Prostate(47;0.184)	254					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.761A>C	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384270	0.25031	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T;T	0.39229	1.09;1.6	5.57	4.41	0.53225	Quinonprotein alcohol dehydrogenase-like (1);	0.075974	0.56097	D	0.000035	T	0.37237	0.0996	M	0.62723	1.935	0.23101	N	0.998296	B	0.24368	0.102	B	0.27380	0.079	T	0.18085	-1.0348	10	0.20519	T	0.43	-0.2168	8.4763	0.33016	0.7565:0.0:0.2435:0.0	.	254	A2RU67	K1467_HUMAN	T	254;30	ENSP00000197268:N254T;ENSP00000437974:N30T	ENSP00000197268:N254T	N	+	2	0	KIAA1467	13107085	0.942000	0.31987	0.491000	0.27477	0.280000	0.26924	1.859000	0.39418	2.114000	0.64651	0.460000	0.39030	AAC		0.493	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		5	143	5	143	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88560143	88560143	+	Silent	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:88560143A>G	ENST00000266712.6	+	7	1054	c.834A>G	c.(832-834)acA>acG	p.T278T		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	278					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAACTCCTACAAGGCAACTAA	0.348																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(832-834)acA>acG		transmembrane and tetratricopeptide repeat containing 3							134.0	125.0	128.0					12																	88560143		2203	4300	6503	SO:0001819	synonymous_variant	160418					integral to membrane	binding	g.chr12:88560143A>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.834A>G	12.37:g.88560143A>G			Somatic					p.T278T	NM_181783.3	NP_861448.2	WXS	Illumina GAIIx	Phase_I	Q6ZXV5	TMTC3_HUMAN			7	1054	+			278					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	ENST00000266712.6	37	c.834A>G	CCDS9032.1																																																																																				0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		4	56	4	56	---	---	---	---
CIT	11113	broad.mit.edu	37	12	120288024	120288024	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:120288024A>T	ENST00000261833.7	-	5	522	c.470T>A	c.(469-471)aTc>aAc	p.I157N	CIT_ENST00000392521.2_Missense_Mutation_p.I157N	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TAATTGGGGGATCCACGGGCT	0.408																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(469-471)aTc>aAc		citron (rho-interacting, serine/threonine kinase 21)							259.0	265.0	263.0					12																	120288024		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120288024A>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.470T>A	12.37:g.120288024A>T	ENSP00000261833:p.Ile157Asn		Somatic				CIT_ENST00000261833.7_Missense_Mutation_p.I157N	p.I157N	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	5	525	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	157			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.470T>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591498	0.86953	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.58358	0.34;0.34;2.41	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.81692	0.4876	H	0.96691	3.865	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.87578	0.998;0.997	D	0.88163	0.2859	10	0.87932	D	0	.	15.2206	0.73308	1.0:0.0:0.0:0.0	.	157;157	Q2M5E1;O14578	.;CTRO_HUMAN	N	157;157;74	ENSP00000376306:I157N;ENSP00000261833:I157N;ENSP00000443199:I74N	ENSP00000261833:I157N	I	-	2	0	CIT	118772407	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.079000	0.94032	2.000000	0.58554	0.533000	0.62120	ATC		0.408	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	176	6	176	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174514	51174514	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr16:51174514C>T	ENST00000251020.4	-	2	1652	c.1619G>A	c.(1618-1620)aGc>aAc	p.S540N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S443N|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	540					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTCTAGCCAGCTGGTGACTGG	0.557																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1327-1329)aGc>aAc		spalt-like transcription factor 1							68.0	65.0	66.0					16																	51174514		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174514C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1619G>A	16.37:g.51174514C>T	ENSP00000251020:p.Ser540Asn		Somatic				SALL1_ENST00000251020.4_Missense_Mutation_p.S540N|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.S443N	NM_001127892.1	NP_001121364.1	WXS	Illumina GAIIx	Phase_I	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1759	-		all_cancers(37;0.0322)	540					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1328G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903024	0.33628	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06768	3.26;3.27	5.33	5.33	0.75918	.	0.037333	0.85682	D	0.000000	T	0.07458	0.0188	N	0.25647	0.755	0.51012	D	0.999905	B	0.17465	0.022	B	0.17433	0.018	T	0.19647	-1.0299	10	0.48119	T	0.1	.	12.3737	0.55269	0.0:0.9229:0.0:0.0771	.	540	Q9NSC2	SALL1_HUMAN	N	540;443;504	ENSP00000251020:S540N;ENSP00000407914:S443N	ENSP00000251020:S540N	S	-	2	0	SALL1	49732015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.897000	0.63231	2.480000	0.83734	0.563000	0.77884	AGC		0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		11	31	11	31	---	---	---	---
ACTG1	71	broad.mit.edu	37	17	79479005	79479005	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr17:79479005A>T	ENST00000575842.1	-	2	713	c.287T>A	c.(286-288)gTg>gAg	p.V96E	ACTG1_ENST00000331925.2_Missense_Mutation_p.V96E|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.V96E|ACTG1_ENST00000573283.1_Missense_Mutation_p.V96E|RP13-766D20.2_ENST00000430912.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	96					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTCCGGGGCCACGCGCAGCTC	0.627																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(286-288)gTg>gAg		actin, gamma 1							52.0	57.0	55.0					17																	79479005		2202	4300	6502	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79479005A>T		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.287T>A	17.37:g.79479005A>T	ENSP00000458162:p.Val96Glu		Somatic				ACTG1_ENST00000573283.1_Missense_Mutation_p.V96E|ACTG1_ENST00000331925.2_Missense_Mutation_p.V96E|ACTG1_ENST00000575087.1_Missense_Mutation_p.V96E	p.V96E			WXS	Illumina GAIIx	Phase_I	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		2	713	-	all_neural(118;0.0878)|Melanoma(429;0.242)		96					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.287T>A	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784429	0.31593	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.97620	-4.46	3.75	3.75	0.43078	.	0.000000	0.64402	D	0.000006	D	0.98801	0.9596	H	0.96048	3.76	0.52501	D	0.999953	D	0.58268	0.982	D	0.83275	0.996	D	0.99164	1.0862	10	0.87932	D	0	.	11.606	0.51033	1.0:0.0:0.0:0.0	.	96	P63261	ACTG_HUMAN	E	96	ENSP00000331514:V96E	ENSP00000331514:V96E	V	-	2	0	ACTG1	77093600	1.000000	0.71417	0.953000	0.39169	0.128000	0.20619	8.617000	0.90927	1.587000	0.49959	0.460000	0.39030	GTG		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		9	33	9	33	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65180992	65180992	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr18:65180992T>G	ENST00000310045.7	-	2	2357	c.884A>C	c.(883-885)aAa>aCa	p.K295T	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	285					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGACGGATTTAGCTGTGTA	0.398																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(883-885)aAa>aCa		dermatan sulfate epimerase-like							86.0	87.0	87.0					18																	65180992		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180992T>G	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.884A>C	18.37:g.65180992T>G	ENSP00000310565:p.Lys295Thr		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.K295T	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	2357	-		Esophageal squamous(42;0.129)	285					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.884A>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.054795	0.55325	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.23552	1.9	4.75	4.75	0.60458	.	0.000000	0.85682	U	0.000000	T	0.44265	0.1285	M	0.63428	1.95	0.44247	D	0.997094	D	0.69078	0.997	P	0.61397	0.888	T	0.34950	-0.9808	10	0.44086	T	0.13	.	14.5712	0.68213	0.0:0.0:0.0:1.0	.	285	Q8IZU8	DSEL_HUMAN	T	295;285	ENSP00000310565:K295T	ENSP00000310565:K295T	K	-	2	0	DSEL	63331972	1.000000	0.71417	0.994000	0.49952	0.919000	0.55068	4.991000	0.63883	1.922000	0.55676	0.459000	0.35465	AAA		0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		4	76	4	76	---	---	---	---
ZNF816	125893	broad.mit.edu	37	19	53453374	53453374	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr19:53453374G>A	ENST00000357666.4	-	5	1954	c.1654C>T	c.(1654-1656)Ctt>Ttt	p.L552F	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L552F|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	552					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGGTTTGCAAGGCATGAATCA	0.403																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1654-1656)Ctt>Ttt		zinc finger protein 816							83.0	84.0	84.0					19																	53453374		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453374G>A	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1654C>T	19.37:g.53453374G>A	ENSP00000350295:p.Leu552Phe		Somatic				ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L552F	p.L552F	NM_001031665.2	NP_001026835.1	WXS	Illumina GAIIx	Phase_I	Q0VGE8	ZN816_HUMAN			5	1954	-			552					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.1654C>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	11.61	1.689184	0.29962	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.52057	0.68;0.68	1.79	0.678	0.17969	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63896	0.2550	M	0.77406	2.37	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50701	-0.8797	9	0.54805	T	0.06	.	6.8209	0.23857	0.164:0.0:0.836:0.0	.	552	Q0VGE8	ZN816_HUMAN	F	552	ENSP00000350295:L552F;ENSP00000403266:L552F	ENSP00000350295:L552F	L	-	1	0	ZNF816	58145186	0.066000	0.20996	0.001000	0.08648	0.105000	0.19272	0.128000	0.15810	0.075000	0.16796	0.205000	0.17691	CTT		0.403	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		14	88	14	88	---	---	---	---
MMP9	4318	broad.mit.edu	37	20	44644994	44644994	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr20:44644994G>T	ENST00000372330.3	+	13	2130	c.2111G>T	c.(2110-2112)tGc>tTc	p.C704F	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	704					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	ATCCTGCAGTGCCCTGAGGAC	0.582																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(2110-2112)tGc>tTc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						122.0	90.0	101.0					20																	44644994		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44644994G>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.2111G>T	20.37:g.44644994G>T	ENSP00000361405:p.Cys704Phe		Somatic				RP11-465L10.10_ENST00000535913.1_RNA	p.C704F	NM_004994.2	NP_004985.2	WXS	Illumina GAIIx	Phase_I	P14780	MMP9_HUMAN			13	2130	+		Myeloproliferative disorder(115;0.0122)	704			Hemopexin-like 4.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.2111G>T	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159501	0.78226	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.41400	1.0	5.12	4.16	0.48862	Hemopexin/matrixin (2);	0.050525	0.85682	N	0.000000	T	0.64114	0.2569	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68469	-0.5400	10	0.87932	D	0	.	12.7045	0.57054	0.0:0.0:0.834:0.166	.	704	P14780	MMP9_HUMAN	F	704;274	ENSP00000361405:C704F	ENSP00000361405:C704F	C	+	2	0	MMP9	44078401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.936000	0.92931	1.113000	0.41760	0.650000	0.86243	TGC		0.582	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			9	33	9	33	---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44693760	44693760	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr20:44693760C>T	ENST00000290231.6	-	6	901	c.737G>A	c.(736-738)aGc>aAc	p.S246N		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				ACCTCCCCTGCTAACATCCTC	0.527																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(736-738)aGc>aAc		nuclear receptor coactivator 5							298.0	230.0	253.0					20																	44693760		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44693760C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.737G>A	20.37:g.44693760C>T	ENSP00000290231:p.Ser246Asn		Somatic					p.S246N	NM_020967.2	NP_066018.1	WXS	Illumina GAIIx	Phase_I	Q9HCD5	NCOA5_HUMAN			6	901	-		Myeloproliferative disorder(115;0.0122)	246					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.737G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182978	0.57800	.	.	ENSG00000124160	ENST00000290231	T	0.48522	0.81	5.38	4.44	0.53790	Anticodon-binding (2);	0.268932	0.48767	N	0.000179	T	0.44350	0.1289	M	0.67397	2.05	0.46279	D	0.998966	B	0.02656	0.0	B	0.01281	0.0	T	0.42899	-0.9424	10	0.49607	T	0.09	-9.8741	8.9951	0.36048	0.0:0.774:0.1483:0.0777	.	246	Q9HCD5	NCOA5_HUMAN	N	246	ENSP00000290231:S246N	ENSP00000290231:S246N	S	-	2	0	NCOA5	44127167	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.744000	0.62118	1.503000	0.48686	0.462000	0.41574	AGC		0.527	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		21	75	21	75	---	---	---	---
DONSON	29980	broad.mit.edu	37	21	34951736	34951736	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr21:34951736A>G	ENST00000303071.5	-	9	1549	c.1483T>C	c.(1483-1485)Tct>Cct	p.S495P	DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.S481P|DONSON_ENST00000432378.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	495					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GCAGAGAAAGATCCACTCTGT	0.428																																						ENST00000303071.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						c.(1483-1485)Tct>Cct		downstream neighbor of SON							148.0	133.0	139.0					21																	34951736		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34951736A>G	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1483T>C	21.37:g.34951736A>G	ENSP00000307143:p.Ser495Pro		Somatic				DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.S481P|DONSON_ENST00000432378.1_Intron	p.S495P	NM_017613.3	NP_060083.1	WXS	Illumina GAIIx	Phase_I	Q9NYP3	DONS_HUMAN			9	1549	-			495					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.1483T>C	CCDS13632.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.071195	0.55646	.	.	ENSG00000159147	ENST00000303113;ENST00000303071	.	.	.	5.98	2.12	0.27331	.	0.320709	0.33144	N	0.005224	T	0.58935	0.2157	M	0.76574	2.34	0.19575	N	0.999969	D;D	0.56521	0.976;0.976	P;P	0.57057	0.812;0.812	T	0.53272	-0.8462	9	0.54805	T	0.06	-10.0452	9.9556	0.41663	0.4081:0.4767:0.0:0.1152	.	481;495	F8W8A5;Q9NYP3	.;DONS_HUMAN	P	481;495	.	ENSP00000307143:S495P	S	-	1	0	DONSON	33873606	0.041000	0.20044	0.591000	0.28745	0.642000	0.38348	0.294000	0.19047	0.113000	0.18004	-0.435000	0.05868	TCT		0.428	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		43	82	43	82	---	---	---	---
IGLV1-47	28822	broad.mit.edu	37	22	22712528	22712528	+	RNA	SNP	G	G	C			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr22:22712528G>C	ENST00000390294.2	+	0	327									immunoglobulin lambda variable 1-47																		TGGCACCTCAGCCTCCCTGGC	0.597																																						ENST00000390294.2																			0																				116.0	113.0	114.0					22																	22712528		1919	4127	6046			28822							g.chr22:22712528G>C	Z73663		22q11.2	2012-02-08			ENSG00000211648	ENSG00000211648		"""Immunoglobulins / IGL locus"""	5880	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151048		22.37:g.22712528G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	327	+									RNA	SNP	ENST00000390294.2	37																																																																																						0.597	IGLV1-47-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321108.2	NG_000002		53	87	53	87	---	---	---	---
IL17REL	400935	broad.mit.edu	37	22	50437763	50437763	+	Silent	SNP	C	C	T	rs148168797		TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr22:50437763C>T	ENST00000389983.2	-	9	822	c.558G>A	c.(556-558)gcG>gcA	p.A186A	IL17REL_ENST00000341280.5_Silent_p.A186A	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	186										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCAGGGGTCGCAGACCAGC	0.677																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(556-558)gcG>gcA		interleukin 17 receptor E-like							57.0	59.0	59.0					22																	50437763		2203	4300	6503	SO:0001819	synonymous_variant	400935							g.chr22:50437763C>T	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.558G>A	22.37:g.50437763C>T			Somatic				IL17REL_ENST00000341280.5_Silent_p.A186A	p.A186A	NM_001001694.2	NP_001001694.2	WXS	Illumina GAIIx	Phase_I	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	9	822	-		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	186					A6NCN4|A6PVC1	Silent	SNP	ENST00000389983.2	37	c.558G>A	CCDS33679.1																																																																																				0.677	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		10	61	10	61	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52947299	52947319	+	Splice_Site	DEL	GCCTTCAATCTATATAAAAAG	GCCTTCAATCTATATAAAAAG	-			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr1:52947299_52947319delGCCTTCAATCTATATAAAAAG	ENST00000371544.3	-	11	1898_1906	c.1636_1644delCTTTTTATATAGATTGAAGGC	c.(1636-1644)ctttttatadel	p.LFI546del	ZCCHC11_ENST00000257177.4_Splice_Site_p.LFI546del|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	546					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.E547*(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGGGTCAAAGCCTTCAATCTATATAAAAAGGCATTCCAAA	0.335																																						ENST00000371544.3																			1	Substitution - Nonsense(1)	p.E547*(1)	NS(1)	NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1636-1644)ctttttatadel		zinc finger, CCHC domain containing 11																																				SO:0001630	splice_region_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52947299_52947319delGCCTTCAATCTATATAAAAAG	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1636-1CTTTTTATATAGATTGAAGGC>-	1.37:g.52947299_52947319delGCCTTCAATCTATATAAAAAG			Somatic				ZCCHC11_ENST00000257177.4_Splice_Site_p.LFI546del|ZCCHC11_ENST00000371541.1_5'UTR	p.LFI546del	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			11	1898_1906	-			546					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Splice_Site	DEL	ENST00000371544.3	37	c.1636_1644delCTTTTTATATAGATTGAAGGC	CCDS30716.1																																																																																				0.335	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	In_Frame_Del	12	47	12	47	---	---	---	---
SLC26A2	1836	broad.mit.edu	37	5	149357907	149357907	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr5:149357907delT	ENST00000286298.4	+	2	960	c.692delT	c.(691-693)gttfs	p.V231fs		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	231					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAGCTGGAGTTTATCAGGTA	0.343																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(691-693)gttfs		solute carrier family 26 (anion exchanger), member 2				0,4262		0,0,2131	87.0	87.0	87.0			3.9	1.0	5		87	2,8252		0,2,4125	no	frameshift	SLC26A2	NM_000112.3		0,2,6256	A1A1,A1R,RR		0.0242,0.0,0.016			149357907	2,12514	2203	4300	6503	SO:0001589	frameshift_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149357907delT	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.692delT	5.37:g.149357907delT	ENSP00000286298:p.Val231fs		Somatic					p.V231fs	NM_000112.3	NP_000103.2	WXS	Illumina GAIIx	Phase_I	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	960	+			231					A8K2U3|B2R6J1|Q6N051	Frame_Shift_Del	DEL	ENST00000286298.4	37	c.692delT	CCDS4300.1																																																																																				0.343	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		11	45	11	45	---	---	---	---
ACTR6	64431	broad.mit.edu	37	12	100617651	100617657	+	Frame_Shift_Del	DEL	AGAAAAT	AGAAAAT	-			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr12:100617651_100617657delAGAAAAT	ENST00000188312.2	+	11	1914_1920	c.1149_1155delAGAAAAT	c.(1147-1155)gaagaaaatfs	p.EEN383fs	ACTR6_ENST00000551617.1_Frame_Shift_Del_p.EEN281fs|ACTR6_ENST00000546902.1_Frame_Shift_Del_p.EEN301fs|ACTR6_ENST00000552376.1_Frame_Shift_Del_p.EEN363fs	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	383						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.E384K(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AAGATTACGAAGAAAATGGACATAGCG	0.329																																						ENST00000188312.2																			1	Substitution - Missense(1)	p.E384K(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(1147-1155)gaagaaaatfs		ARP6 actin-related protein 6 homolog (yeast)																																				SO:0001589	frameshift_variant	64431					cytoplasm|cytoskeleton		g.chr12:100617651_100617657delAGAAAAT	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1149_1155delAGAAAAT	12.37:g.100617651_100617657delAGAAAAT	ENSP00000188312:p.Glu383fs		Somatic				ACTR6_ENST00000551617.1_Frame_Shift_Del_p.EEN281fs|ACTR6_ENST00000546902.1_Frame_Shift_Del_p.EEN301fs|ACTR6_ENST00000552376.1_Frame_Shift_Del_p.EEN363fs	p.EEN383fs	NM_022496.4	NP_071941.1	WXS	Illumina GAIIx	Phase_I	Q9GZN1	ARP6_HUMAN			11	1914_1920	+			383					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Frame_Shift_Del	DEL	ENST00000188312.2	37	c.1149_1155delAGAAAAT	CCDS9074.1																																																																																				0.329	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		7	46	7	46	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47806259	47806260	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V1-A8WV-01A-11D-A377-08	TCGA-V1-A8WV-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb3d2a6b-9f91-4cc4-8f42-129e41672023	84819ecf-df76-4072-96dc-6a298f4b3b0c	g.chr18:47806259_47806260insA	ENST00000591416.1	-	2	534_535	c.103_104insT	c.(103-105)tacfs	p.Y35fs	MBD1_ENST00000398493.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.Y61fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000590208.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.Y35fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	35	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GTACCTCTGGTAATAGGTGTCT	0.554																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(103-105)tacfs		methyl-CpG binding domain protein 1																																				SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47806259_47806260insA	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.104dupT	18.37:g.47806261_47806261dupA	ENSP00000467017:p.Tyr35fs		Somatic				MBD1_ENST00000590208.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.Y61fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.Y35fs	p.Y35fs			WXS	Illumina GAIIx	Phase_I	Q9UIS9	MBD1_HUMAN			2	534_535	-			35			MBD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Ins	INS	ENST00000591416.1	37	c.103_104insT	CCDS11943.1																																																																																				0.554	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		19	21	19	21	---	---	---	---
