#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDC37L1	55664	broad.mit.edu	37	9	4697876	4697876	+	Silent	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr9:4697876C>T	ENST00000381854.3	+	5	946	c.744C>T	c.(742-744)gcC>gcT	p.A248A	CDC37L1_ENST00000381858.1_Silent_p.A248A	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	248	Self-association and interaction with Hsp90.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TCCAGAAAGCCAAAGTAAGTA	0.373																																						ENST00000381854.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(742-744)gcC>gcT		cell division cycle 37-like 1							94.0	100.0	98.0					9																	4697876		2203	4300	6503	SO:0001819	synonymous_variant	55664					cytoplasm		g.chr9:4697876C>T	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.744C>T	9.37:g.4697876C>T						CDC37L1_ENST00000381858.1_Silent_p.A248A	p.A248A	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	5	946	+	all_hematologic(13;0.137)	Breast(48;0.238)	248			Self-association and interaction with Hsp90.		B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	37	c.744C>T	CCDS6454.1																																																																																				0.373	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913		30	20	0	0	0	1	0	30	20				
EP400	57634	broad.mit.edu	37	12	132446488	132446488	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:132446488A>G	ENST00000333577.4	+	2	1433	c.1324A>G	c.(1324-1326)Atc>Gtc	p.I442V	EP400_ENST00000389562.2_Missense_Mutation_p.I442V|EP400_ENST00000330386.6_Missense_Mutation_p.I442V|EP400_ENST00000332482.4_Missense_Mutation_p.I442V|EP400_ENST00000389561.2_Missense_Mutation_p.I442V			Q96L91	EP400_HUMAN	E1A binding protein p400	442					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATCTGAGGTTATCAATGACGA	0.368																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1324-1326)Atc>Gtc		E1A binding protein p400							35.0	34.0	35.0					12																	132446488		2201	4300	6501	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132446488A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1324A>G	12.37:g.132446488A>G	ENSP00000333602:p.Ile442Val					EP400_ENST00000389561.2_Missense_Mutation_p.I442V|EP400_ENST00000389562.2_Missense_Mutation_p.I442V|EP400_ENST00000330386.6_Missense_Mutation_p.I442V|EP400_ENST00000332482.4_Missense_Mutation_p.I442V	p.I442V			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	2	1433	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	442					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.1324A>G		.	.	.	.	.	.	.	.	.	.	A	10.12	1.264061	0.23136	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92965	-2.88;-3.14;-3.12;-2.95;-3.14	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.91074	0.7191	M	0.62723	1.935	0.32061	N	0.595697	B;B;B;B;B	0.30563	0.285;0.165;0.285;0.147;0.285	B;B;B;B;B	0.38985	0.203;0.069;0.203;0.287;0.122	D	0.91498	0.5217	10	0.46703	T	0.11	.	9.5197	0.39126	0.9205:0.0:0.0795:0.0	.	442;442;442;442;442	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	V	442	ENSP00000333602:I442V;ENSP00000374212:I442V;ENSP00000374213:I442V;ENSP00000331737:I442V;ENSP00000330620:I442V	ENSP00000330620:I442V	I	+	1	0	EP400	131012441	1.000000	0.71417	0.994000	0.49952	0.932000	0.56968	8.962000	0.93254	1.952000	0.56665	0.459000	0.35465	ATC		0.368	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		12	23	0	0	0	1	0	12	23				
RIMS3	9783	broad.mit.edu	37	1	41107556	41107556	+	Silent	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:41107556G>A	ENST00000372684.3	-	3	511	c.42C>T	c.(40-42)tcC>tcT	p.S14S	RIMS3_ENST00000372683.1_Silent_p.S14S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	14					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CCACATTCCTGGAGGCCCCAG	0.642																																						ENST00000372684.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(40-42)tcC>tcT		regulating synaptic membrane exocytosis 3							35.0	36.0	35.0					1																	41107556		2203	4300	6503	SO:0001819	synonymous_variant	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41107556G>A	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.42C>T	1.37:g.41107556G>A						RIMS3_ENST00000372683.1_Silent_p.S14S	p.S14S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		3	511	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	14					D3DPV8|Q92511|X5D7U7	Silent	SNP	ENST00000372684.3	37	c.42C>T	CCDS30687.1																																																																																				0.642	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		12	35	0	0	0	1	0	12	35				
MMP16	4325	broad.mit.edu	37	8	89128881	89128881	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr8:89128881G>T	ENST00000286614.6	-	6	1219	c.938C>A	c.(937-939)cCt>cAt	p.P313H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	313					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GTCAGCCGGAGGAATAGAGCG	0.547																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(937-939)cCt>cAt		matrix metallopeptidase 16 (membrane-inserted)							202.0	206.0	205.0					8																	89128881		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128881G>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.938C>A	8.37:g.89128881G>T	ENSP00000286614:p.Pro313His					MMP16_ENST00000544227.1_5'UTR	p.P313H	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			6	1219	-			313					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.938C>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464941	0.43839	.	.	ENSG00000156103	ENST00000286614	T	0.18174	2.23	5.79	5.79	0.91817	.	0.251116	0.47093	D	0.000249	T	0.43612	0.1255	M	0.73962	2.25	0.80722	D	1	D;B	0.69078	0.997;0.175	D;B	0.64776	0.929;0.052	T	0.13548	-1.0505	10	0.48119	T	0.1	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	313;313	P51512-2;P51512	.;MMP16_HUMAN	H	313	ENSP00000286614:P313H	ENSP00000286614:P313H	P	-	2	0	MMP16	89197997	1.000000	0.71417	0.879000	0.34478	0.991000	0.79684	4.716000	0.61916	2.753000	0.94483	0.557000	0.71058	CCT		0.547	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		23	137	1	0	1.64293e-13	1	1.77984e-13	23	137				
DDB1	1642	broad.mit.edu	37	11	61070124	61070124	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:61070124C>A	ENST00000301764.7	-	24	3439	c.3042G>T	c.(3040-3042)atG>atT	p.M1014I	DDB1_ENST00000451943.2_Start_Codon_SNP_p.M1I|DDB1_ENST00000450997.2_Missense_Mutation_p.M325I|DDB1_ENST00000538470.1_Missense_Mutation_p.M61I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1014	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGATTCTGCATTACCAGAG	0.597								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3040-3042)atG>atT	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							142.0	146.0	145.0					11																	61070124		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61070124C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3042G>T	11.37:g.61070124C>A	ENSP00000301764:p.Met1014Ile					DDB1_ENST00000451943.2_Start_Codon_SNP_p.M1I|DDB1_ENST00000450997.2_Missense_Mutation_p.M325I|DDB1_ENST00000538470.1_Missense_Mutation_p.M61I	p.M1014I	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			24	3439	-			1014			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.3042G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044483	0.75732	.	.	ENSG00000167986	ENST00000301764;ENST00000451943;ENST00000450997;ENST00000538470;ENST00000539332	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.03	5.03	0.67393	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.046820	0.85682	D	0.000000	T	0.49236	0.1545	M	0.82323	2.585	0.80722	D	1	B;B	0.31153	0.011;0.31	B;B	0.33392	0.01;0.163	T	0.51156	-0.8741	10	0.15066	T	0.55	-28.4456	18.3488	0.90330	0.0:1.0:0.0:0.0	.	325;1014	B4DG00;Q16531	.;DDB1_HUMAN	I	1014;1;325;61;180	ENSP00000301764:M1014I;ENSP00000388705:M325I;ENSP00000441522:M61I;ENSP00000439787:M180I	ENSP00000301764:M1014I	M	-	3	0	DDB1	60826700	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.062000	0.71155	2.336000	0.79503	0.561000	0.74099	ATG		0.597	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		157	124	1	0	2.75688e-47	1	3.17564e-47	157	124				
IGFN1	91156	broad.mit.edu	37	1	201195148	201195148	+	Silent	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:201195148C>T	ENST00000335211.4	+	22	10813	c.10683C>T	c.(10681-10683)atC>atT	p.I3561I	RP11-567E21.3_ENST00000453155.1_RNA|IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1104						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCTGGGCATCCTCCCCGGCC	0.672																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10681-10683)atC>atT		immunoglobulin-like and fibronectin type III domain containing 1							81.0	63.0	69.0					1																	201195148		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201195148C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10683C>T	1.37:g.201195148C>T						IGFN1_ENST00000295591.8_3'UTR	p.I3561I	NM_001164586.1	NP_001158058.1					22	10813	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.10683C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	2.277	-0.365554	0.05069	.	.	ENSG00000163395	ENST00000412892	.	.	.	4.91	1.77	0.24775	.	.	.	.	.	T	0.61248	0.2332	.	.	.	0.52099	D	0.999942	.	.	.	.	.	.	T	0.55995	-0.8052	4	.	.	.	.	11.8988	0.52671	0.0:0.2476:0.6703:0.0821	.	.	.	.	S	979	.	.	P	+	1	0	IGFN1	199461771	0.954000	0.32549	0.990000	0.47175	0.184000	0.23303	0.803000	0.27083	0.163000	0.19507	0.561000	0.74099	CCT		0.672	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		26	54	0	0	0	1	0	26	54				
PCDHB8	56128	broad.mit.edu	37	5	140558090	140558090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr5:140558090G>T	ENST00000239444.2	+	1	720	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAATGCTGAAGACTTAGA	0.438																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(475-477)Gaa>Taa									74.0	115.0	101.0					5																	140558090		2203	4300	6503	SO:0001587	stop_gained	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558090G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.475G>T	5.37:g.140558090G>T	ENSP00000239444:p.Glu159*						p.E159*	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	720	+			159			Cadherin 2.		B9EGV1	Nonsense_Mutation	SNP	ENST00000239444.2	37	c.475G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	14.71	2.616347	0.46736	.	.	ENSG00000120322	ENST00000239444	.	.	.	4.25	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	12.3846	0.55325	0.0:0.6567:0.3432:0.0	.	.	.	.	X	159	.	ENSP00000239444:E159X	E	+	1	0	PCDHB8	140538274	0.000000	0.05858	0.282000	0.24776	0.171000	0.22731	0.025000	0.13577	0.767000	0.33267	-0.353000	0.07706	GAA		0.438	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		24	469	1	0	7.92952e-12	1	8.48925e-12	24	469				
ZSCAN5A	79149	broad.mit.edu	37	19	56733993	56733993	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:56733993T>A	ENST00000587340.1	-	6	1401	c.706A>T	c.(706-708)Aca>Tca	p.T236S	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.T119S|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.T236S|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.T236S|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.T90S			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	236					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGGGGATGTCAGTCCTGGG	0.542																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(706-708)Aca>Tca		zinc finger and SCAN domain containing 5A							216.0	188.0	197.0					19																	56733993		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733993T>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.706A>T	19.37:g.56733993T>A	ENSP00000467631:p.Thr236Ser					ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.T119S|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.T236S|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.T90S|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.T236S	p.T236S			Q9BUG6	ZSA5A_HUMAN			6	1401	-			236					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.706A>T	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	1.954	-0.440405	0.04636	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.05996	3.4;3.36	2.27	-4.55	0.03441	.	.	.	.	.	T	0.04861	0.0131	L	0.47716	1.5	0.09310	N	1	B;B	0.23540	0.006;0.087	B;B	0.15052	0.002;0.012	T	0.28681	-1.0036	9	0.44086	T	0.13	.	2.8583	0.05578	0.1272:0.4604:0.1282:0.2842	.	119;236	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	S	236;119	ENSP00000375593:T236S;ENSP00000254165:T119S	ENSP00000254165:T119S	T	-	1	0	ZSCAN5A	61425805	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.881000	0.04179	-2.404000	0.00576	-0.441000	0.05720	ACA		0.542	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		19	54	0	0	0	1	0	19	54				
VPS41	27072	broad.mit.edu	37	7	38869862	38869862	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr7:38869862C>G	ENST00000310301.4	-	5	367	c.313G>C	c.(313-315)Gat>Cat	p.D105H	VPS41_ENST00000395969.2_Intron	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	105					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACCTTGCCATCCTCTGAACAC	0.433																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(313-315)Gat>Cat		vacuolar protein sorting 41 homolog (S. cerevisiae)							452.0	435.0	441.0					7																	38869862		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38869862C>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.313G>C	7.37:g.38869862C>G	ENSP00000309457:p.Asp105His					VPS41_ENST00000395969.2_Intron	p.D105H	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			5	367	-			105					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.313G>C	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858829	0.71834	.	.	ENSG00000006715	ENST00000310301;ENST00000413141;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T	0.64438	1.54;2.31;2.31;-0.1;1.45	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87935	0.2713	10	0.87932	D	0	-26.895	17.4862	0.87689	0.0:1.0:0.0:0.0	.	105;105	B2RB94;P49754	.;VPS41_HUMAN	H	105;31;92;55;55	ENSP00000309457:D105H;ENSP00000412974:D31H;ENSP00000411919:D92H;ENSP00000407835:D55H;ENSP00000398584:D55H	ENSP00000265745:D105H	D	-	1	0	VPS41	38836387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.491000	0.73649	2.611000	0.88343	0.650000	0.86243	GAT		0.433	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			6	700	0	0	0	1	0	6	700				
RAB3D	9545	broad.mit.edu	37	19	11446172	11446172	+	Silent	SNP	G	G	A	rs139194537	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:11446172G>A	ENST00000222120.3	-	4	683	c.423C>T	c.(421-423)gaC>gaT	p.D141D	RAB3D_ENST00000589655.1_Silent_p.D141D	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	141					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CAACACGTTCGTCCTCCAGGT	0.617																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(421-423)gaC>gaT		RAB3D, member RAS oncogene family		G		2,4404	4.2+/-10.8	0,2,2201	93.0	75.0	81.0		423	-8.8	0.7	19	dbSNP_134	81	5,8595	5.0+/-18.6	0,5,4295	yes	coding-synonymous	RAB3D	NM_004283.3		0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538		141/220	11446172	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11446172G>A	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.423C>T	19.37:g.11446172G>A						RAB3D_ENST00000589655.1_Silent_p.D141D	p.D141D	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			4	683	-			141						Silent	SNP	ENST00000222120.3	37	c.423C>T	CCDS12257.1																																																																																				0.617	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		18	29	0	0	0	1	0	18	29				
MCC	4163	broad.mit.edu	37	5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	rs199741976		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr5:112824054C>T	ENST00000408903.3	-	1	473	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756																																						ENST00000408903.3																			1	Substitution - Missense(1)	p.G20S(1)	central_nervous_system(1)	endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(58-60)Ggc>Agc		mutated in colorectal cancers							5.0	7.0	7.0					5																	112824054		1172	2822	3994	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824054C>T		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.58G>A	5.37:g.112824054C>T	ENSP00000386227:p.Gly20Ser						p.G20S	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	473	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	548					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	c.58G>A	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375835	0.11409	.	.	ENSG00000171444	ENST00000408903	T	0.34472	1.36	2.05	2.05	0.26809	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.25816	N	0.984338	D	0.89917	1.0	D	0.71184	0.972	T	0.22626	-1.0211	8	0.32370	T	0.25	.	4.5587	0.12149	0.0:0.7053:0.0:0.2947	.	20	P23508-2	.	S	20	ENSP00000386227:G20S	ENSP00000386227:G20S	G	-	1	0	MCC	112851953	0.002000	0.14202	0.063000	0.19743	0.016000	0.09150	1.079000	0.30766	1.100000	0.41517	0.491000	0.48974	GGC		0.756	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		4	1	0	0	0	1	0	4	1				
DNAH17	8632	broad.mit.edu	37	17	76476820	76476820	+	Silent	SNP	G	G	A	rs192616101	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:76476820G>A	ENST00000585328.1	-	49	7807	c.7683C>T	c.(7681-7683)taC>taT	p.Y2561Y	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Silent_p.Y2552Y	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2552	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCAGGCCACGTACTGACAAT	0.517													g|||	2	0.000399361	0.0015	0.0	5008	,	,		17086	0.0		0.0	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(7654-7656)taC>taT		dynein, axonemal, heavy chain 17				2,3964		0,2,1981	113.0	116.0	115.0		7698	-7.0	0.9	17		115	0,8316		0,0,4158	no	coding-synonymous	DNAH17	NM_173628.3		0,2,6139	AA,AG,GG		0.0,0.0504,0.0163		2566/4463	76476820	2,12280	1983	4158	6141	SO:0001819	synonymous_variant	8632							g.chr17:76476820G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7683C>T	17.37:g.76476820G>A						DNAH17_ENST00000585328.1_Silent_p.Y2561Y|DNAH17_ENST00000586052.1_Intron	p.Y2552Y					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		49	7780	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.7656C>T																																																																																					0.517	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	25	0	0	0	1	0	7	25				
FANCF	2188	broad.mit.edu	37	11	22647101	22647101	+	Missense_Mutation	SNP	G	G	A	rs587778341		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:22647101G>A	ENST00000327470.3	-	1	286	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	AC103801.2_ENST00000428556.2_Silent_p.E15E	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	86					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CAGTGACCGAGGGCCTGGAAG	0.662			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000327470.3			yes	Rec		Fanconi anaemia F	11	11p15	2188	"""N, F"""	"""Fanconi anemia, complementation group F"""			L		"""AML, leukemia"""			0				kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						c.(256-258)Ctc>Ttc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							52.0	59.0	57.0					11																	22647101		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647101G>A		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.256C>T	11.37:g.22647101G>A	ENSP00000330875:p.Leu86Phe					AC103801.2_ENST00000428556.2_Silent_p.E15E	p.L86F	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN			1	286	-			86					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.256C>T	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819793	0.50633	.	.	ENSG00000183161	ENST00000327470	T	0.64618	-0.11	5.21	-0.251	0.13003	.	0.000000	0.64402	U	0.000005	T	0.68970	0.3059	L	0.59436	1.845	0.20403	N	0.999905	D	0.64830	0.994	D	0.69142	0.962	T	0.60596	-0.7232	10	0.87932	D	0	-10.1825	7.929	0.29891	0.1196:0.0:0.7396:0.1408	.	86	Q9NPI8	FANCF_HUMAN	F	86	ENSP00000330875:L86F	ENSP00000330875:L86F	L	-	1	0	FANCF	22603677	0.052000	0.20516	0.001000	0.08648	0.312000	0.27988	0.271000	0.18626	-0.120000	0.11809	0.655000	0.94253	CTC		0.662	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		65	134	0	0	0	1	0	65	134				
NDUFB1	4707	broad.mit.edu	37	14	92583984	92583984	+	5'UTR	SNP	T	T	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:92583984T>C	ENST00000555441.1	-	0	211				NDUFB1_ENST00000556555.1_5'Flank|NDUFB1_ENST00000553514.1_5'UTR|NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000329559.3_Missense_Mutation_p.I47V			O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)		TTCACCATGATAGCTAAAAGA	0.378																																						ENST00000329559.3																			0				large_intestine(1)|lung(1)	2						c.(139-141)Atc>Gtc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	NADH(DB00157)						44.0	43.0	43.0					14																	92583984		2203	4300	6503	SO:0001623	5_prime_UTR_variant	4707				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr14:92583984T>C	BC104672	CCDS9901.1	14q31.3	2011-07-04	2002-08-29		ENSG00000183648	ENSG00000183648		"""Mitochondrial respiratory chain complex / Complex I"""	7695	protein-coding gene	gene with protein product	"""complex I MNLL subunit"""	603837	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (7kD, MNLL)"""			9763677	Standard	NM_004545		Approved	MNLL, CI-MNLL	uc001yaf.3	O75438		ENST00000555441.1:c.-3A>G	14.37:g.92583984T>C						NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000555441.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	p.I47V	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)	2	278	-		all_cancers(154;0.0766)	0					A0AV68	Missense_Mutation	SNP	ENST00000555441.1	37	c.139A>G		.	.	.	.	.	.	.	.	.	.	T	5.873	0.345317	0.11126	.	.	ENSG00000183648	ENST00000329559	.	.	.	5.18	-3.61	0.04556	.	0.622464	0.13934	N	0.352677	T	0.26448	0.0646	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.15925	-1.0420	8	0.12430	T	0.62	-0.1509	4.9844	0.14182	0.124:0.5095:0.0989:0.2677	.	47	O75438-2	.	V	47	.	ENSP00000330787:I47V	I	-	1	0	NDUFB1	91653737	0.707000	0.27866	0.079000	0.20413	0.005000	0.04900	-0.207000	0.09384	-1.056000	0.03205	-0.250000	0.11733	ATC		0.378	NDUFB1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412121.1	NM_004545		16	27	0	0	0	1	0	16	27				
KSR2	283455	broad.mit.edu	37	12	117962852	117962852	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:117962852C>T	ENST00000339824.5	-	14	2751	c.2024G>A	c.(2023-2025)gGc>gAc	p.G675D	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.G372D|KSR2_ENST00000425217.1_Missense_Mutation_p.G646D			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	675	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCAAAGCGGCCCTTTCCAAT	0.612																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1936-1938)gGc>gAc		kinase suppressor of ras 2							59.0	64.0	62.0					12																	117962852		2092	4205	6297	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117962852C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2024G>A	12.37:g.117962852C>T	ENSP00000339952:p.Gly675Asp					KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.G372D|KSR2_ENST00000339824.5_Missense_Mutation_p.G675D	p.G646D	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			14	1991	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		675					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1937G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.605804	0.87157	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	D;D;D	0.99369	-5.78;-5.78;-5.78	4.98	4.98	0.66077	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97053	0.9765	10	0.87932	D	0	.	18.4381	0.90653	0.0:1.0:0.0:0.0	.	675	Q6VAB6	KSR2_HUMAN	D	646;675;372;347	ENSP00000389715:G646D;ENSP00000339952:G675D;ENSP00000305466:G372D	ENSP00000305466:G372D	G	-	2	0	KSR2	116447235	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.651000	0.83577	2.584000	0.87258	0.650000	0.86243	GGC		0.612	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		21	42	0	0	0	1	0	21	42				
CES4A	283848	broad.mit.edu	37	16	67039294	67039294	+	Missense_Mutation	SNP	G	G	A	rs202172028		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr16:67039294G>A	ENST00000326686.5	+	11	1313	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	CES4A_ENST00000541479.1_Missense_Mutation_p.R434Q|CES4A_ENST00000338718.4_Missense_Mutation_p.R461Q|CES4A_ENST00000540579.1_Missense_Mutation_p.R340Q|CES4A_ENST00000540947.2_Missense_Mutation_p.R438Q|CES4A_ENST00000535696.1_Missense_Mutation_p.R344Q|CES4A_ENST00000398354.1_Missense_Mutation_p.R411Q			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	438						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CACTACCACCGAGGTATGCAG	0.542																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1312-1314)cGa>cAa		carboxylesterase 4A		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4164		0,0,2082	82.0	85.0	84.0		1019,1031,1313	3.1	0.0	16		84	1,8441		0,1,4220	yes	missense,missense,missense	CES4A	NM_001190201.1,NM_001190202.1,NM_173815.6	43,43,43	0,1,6302	AA,AG,GG		0.0118,0.0,0.0079	benign,benign,benign	340/464,344/375,438/469	67039294	1,12605	2082	4221	6303	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67039294G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1313G>A	16.37:g.67039294G>A	ENSP00000314145:p.Arg438Gln					CES4A_ENST00000398354.1_Missense_Mutation_p.R411Q|CES4A_ENST00000326686.5_Missense_Mutation_p.R438Q|CES4A_ENST00000541479.1_Missense_Mutation_p.R434Q|CES4A_ENST00000338718.4_Missense_Mutation_p.R461Q|CES4A_ENST00000540579.1_Missense_Mutation_p.R340Q|CES4A_ENST00000535696.1_Missense_Mutation_p.R344Q	p.R438Q	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			11	1497	+			438					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1313G>A		.	.	.	.	.	.	.	.	.	.	g	13.99	2.402749	0.42613	0.0	1.18E-4	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;3.05;0.3;3.05;0.3	4.06	3.1	0.35709	Carboxylesterase, type B (1);	0.000000	0.32147	U	0.006512	T	0.51534	0.1680	L	0.46157	1.445	0.09310	N	1	D;D;B;P	0.53619	0.961;0.961;0.438;0.542	P;P;P;B	0.45558	0.485;0.485;0.464;0.073	T	0.48758	-0.9007	10	0.66056	D	0.02	.	9.7612	0.40532	0.1046:0.0:0.8954:0.0	.	344;461;438;434	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	Q	438;434;461;411;438;374;340;344	ENSP00000444052:R438Q;ENSP00000443175:R434Q;ENSP00000340714:R461Q;ENSP00000381397:R411Q;ENSP00000314145:R438Q;ENSP00000441103:R374Q;ENSP00000441907:R340Q;ENSP00000441644:R344Q	ENSP00000314145:R438Q	R	+	2	0	CES4A	65596795	0.434000	0.25570	0.001000	0.08648	0.015000	0.08874	1.779000	0.38624	1.036000	0.39998	0.486000	0.48141	CGA		0.542	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		27	53	0	0	0	1	0	27	53				
CFAP54	144535	broad.mit.edu	37	12	97078470	97078470	+	Silent	SNP	T	T	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:97078470T>C	ENST00000524981.4	+	41	5784	c.5761T>C	c.(5761-5763)Ttg>Ctg	p.L1921L				Q96N23	CL055_HUMAN		0																	AGTTCAGGCGTTGCATTCACT	0.323																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1114-1116)Ttg>Ctg									77.0	91.0	86.0					12																	97078470		2203	4299	6502	SO:0001819	synonymous_variant	144535							g.chr12:97078470T>C																												ENST00000524981.4:c.5761T>C	12.37:g.97078470T>C							p.L372L			Q6ZTY8	CL063_HUMAN			8	1114	+			346						Silent	SNP	ENST00000524981.4	37	c.1114T>C																																																																																					0.323	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			34	41	0	0	0	1	0	34	41				
PDGFRB	5159	broad.mit.edu	37	5	149506164	149506164	+	Silent	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr5:149506164C>T	ENST00000261799.4	-	11	2062	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	531					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCACCACCACCTTAAAGGGCA	0.572			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1591-1593)aaG>aaA		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						105.0	82.0	90.0					5																	149506164		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149506164C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1593G>A	5.37:g.149506164C>T							p.K531K	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	2062	-		all_hematologic(541;0.224)	531					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.1593G>A	CCDS4303.1																																																																																				0.572	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		26	17	0	0	0	1	0	26	17				
MSH6	2956	broad.mit.edu	37	2	48026064	48026064	+	Missense_Mutation	SNP	C	C	G	rs150440246	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:48026064C>G	ENST00000234420.5	+	4	1094	c.942C>G	c.(940-942)agC>agG	p.S314R	MSH6_ENST00000538136.1_Missense_Mutation_p.S12R|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.S184R	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	314					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGAAAAGCTCTAGGAAGG	0.463			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(940-942)agC>agG	Mismatch excision repair (MMR)	mutS homolog 6		C	ARG/SER	4,4402	8.1+/-20.4	0,4,2199	147.0	158.0	155.0		942	0.5	0.8	2	dbSNP_134	155	0,8600		0,0,4300	yes	missense	MSH6	NM_000179.2	110	0,4,6499	GG,GC,CC		0.0,0.0908,0.0308	benign	314/1361	48026064	4,13002	2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026064C>G	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.942C>G	2.37:g.48026064C>G	ENSP00000234420:p.Ser314Arg					MSH6_ENST00000538136.1_Missense_Mutation_p.S12R|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.S184R	p.S314R	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1094	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	314					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.942C>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	3.365	-0.129555	0.06753	9.08E-4	0.0	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87650	-1.95;-2.06;-2.28	4.27	0.521	0.17046	.	0.335977	0.33712	N	0.004640	T	0.78304	0.4262	L	0.45581	1.43	0.24392	N	0.994749	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.13407	0.003;0.001;0.009	T	0.60414	-0.7268	10	0.20046	T	0.44	-4.5239	6.7291	0.23373	0.0:0.5937:0.0:0.4063	.	184;314;314	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	R	314;312;184;12	ENSP00000234420:S314R;ENSP00000446475:S184R;ENSP00000438580:S12R	ENSP00000234420:S314R	S	+	3	2	MSH6	47879568	0.890000	0.30428	0.826000	0.32828	0.416000	0.31233	0.754000	0.26390	0.217000	0.20800	-1.267000	0.01435	AGC		0.463	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		85	223	0	0	0	1	0	85	223				
NOTCH1	4851	broad.mit.edu	37	9	139413085	139413085	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr9:139413085G>A	ENST00000277541.6	-	6	1132	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R353C(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGGCCACACGGTCATGGCAG	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.R353C(2)	lung(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1057-1059)Cgt>Tgt		notch 1							27.0	33.0	31.0					9																	139413085		2197	4292	6489	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413085G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1057C>T	9.37:g.139413085G>A	ENSP00000277541:p.Arg353Cys	HNSCC(8;0.001)					p.R353C	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1132	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	353			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1057C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227690	0.95173	.	.	ENSG00000148400	ENST00000277541	D	0.87491	-2.26	5.12	5.12	0.69794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93786	0.7088	10	0.48119	T	0.1	.	17.1039	0.86657	0.0:0.0:1.0:0.0	.	353	P46531	NOTC1_HUMAN	C	353	ENSP00000277541:R353C	ENSP00000277541:R353C	R	-	1	0	NOTCH1	138532906	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.334000	0.72944	2.374000	0.81015	0.561000	0.74099	CGT		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	35	0	0	0	1	0	9	35				
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	lincRNA	SNP	C	C	T	rs6583275	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886									long intergenic non-protein coding RNA 969																		CTTTGAGGTGCACTGGAGGAA	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		35599	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			440993							g.chr3:195410689C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410689C>T														0	1886	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	32	0	0	0	1	0	7	32				
NOX5	79400	broad.mit.edu	37	15	69348934	69348934	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr15:69348934G>C	ENST00000388866.3	+	16	2237	c.2196G>C	c.(2194-2196)aaG>aaC	p.K732N	NOX5_ENST00000448182.3_Missense_Mutation_p.K686N|NOX5_ENST00000530406.2_Missense_Mutation_p.K704N|NOX5_ENST00000260364.5_Missense_Mutation_p.K714N|NOX5_ENST00000455873.3_Missense_Mutation_p.K697N	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	732					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGAGAAGAAGGGCAAGGTGC	0.527																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2140-2142)aaG>aaC		NADPH oxidase, EF-hand calcium binding domain 5							91.0	87.0	89.0					15																	69348934		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69348934G>C	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2196G>C	15.37:g.69348934G>C	ENSP00000373518:p.Lys732Asn					NOX5_ENST00000388866.3_Missense_Mutation_p.K732N|NOX5_ENST00000448182.3_Missense_Mutation_p.K686N|NOX5_ENST00000530406.2_Missense_Mutation_p.K704N|NOX5_ENST00000455873.3_Missense_Mutation_p.K697N	p.K714N			Q96PH1	NOX5_HUMAN			17	2443	+			732					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2142G>C	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137234	0.21123	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94862	-3.54;-3.54;-3.54	3.41	-0.802	0.10889	Ferric reductase, NAD binding (1);	0.000000	0.64402	U	0.000001	D	0.88973	0.6583	L	0.43923	1.385	0.49213	D	0.999767	B;B;B	0.33198	0.063;0.401;0.4	B;B;B	0.31495	0.033;0.109;0.131	T	0.77256	-0.2655	10	0.33141	T	0.24	.	9.3022	0.37853	0.4612:0.0:0.5388:0.0	.	697;732;704	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	N	697;714;732;704	ENSP00000416828:K697N;ENSP00000373518:K732N;ENSP00000432440:K704N	ENSP00000373518:K732N	K	+	3	2	NOX5	67135988	0.999000	0.42202	0.425000	0.26659	0.111000	0.19643	0.552000	0.23376	-0.783000	0.04534	-1.233000	0.01565	AAG		0.527	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		41	53	0	0	0	1	0	41	53				
FOXR1	283150	broad.mit.edu	37	11	118851366	118851366	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:118851366C>T	ENST00000317011.3	+	5	1003	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	260					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGGACACCGCCGCTTTGCGGA	0.602																																						ENST00000317011.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(778-780)Cgc>Tgc		forkhead box R1							39.0	42.0	41.0					11																	118851366		2200	4295	6495	SO:0001583	missense	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr11:118851366C>T	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.778C>T	11.37:g.118851366C>T	ENSP00000314806:p.Arg260Cys						p.R260C	NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	5	1003	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	260					B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	c.778C>T	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722678	0.68959	.	.	ENSG00000176302	ENST00000317011	D	0.95622	-3.76	5.45	4.48	0.54585	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.95056	0.8399	N	0.26092	0.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.94397	0.7619	10	0.59425	D	0.04	.	10.6195	0.45472	0.3069:0.6931:0.0:0.0	.	260	Q6PIV2	FOXR1_HUMAN	C	260	ENSP00000314806:R260C	ENSP00000314806:R260C	R	+	1	0	FOXR1	118356576	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	1.867000	0.39499	2.546000	0.85860	0.650000	0.86243	CGC		0.602	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		39	102	0	0	0	1	0	39	102				
DNAJB11	51726	broad.mit.edu	37	3	186289886	186289886	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:186289886G>A	ENST00000439351.1	+	3	1000	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	TBCCD1_ENST00000446782.1_5'Flank|TBCCD1_ENST00000424280.1_5'Flank|DNAJB11_ENST00000265028.3_Missense_Mutation_p.R24Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	24					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTTCCCAGACGAGATTTCTAT	0.388																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(70-72)cGa>cAa		DnaJ (Hsp40) homolog, subfamily B, member 11							65.0	68.0	67.0					3																	186289886		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186289886G>A	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.71G>A	3.37:g.186289886G>A	ENSP00000414398:p.Arg24Gln					DNAJB11_ENST00000265028.3_Missense_Mutation_p.R24Q	p.R24Q			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	3	1000	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		24					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.71G>A	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574652	0.86542	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.73469	-0.75;-0.75	5.3	5.3	0.74995	Heat shock protein DnaJ, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.77164	0.4090	N	0.25890	0.77	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.78486	-0.2185	10	0.54805	T	0.06	-10.7814	16.5102	0.84282	0.0:0.0:1.0:0.0	.	24	Q9UBS4	DJB11_HUMAN	Q	24	ENSP00000414398:R24Q;ENSP00000265028:R24Q	ENSP00000265028:R24Q	R	+	2	0	DNAJB11	187772580	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	8.731000	0.91529	2.775000	0.95449	0.585000	0.79938	CGA		0.388	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			5	95	0	0	0	1	0	5	95				
ADHFE1	137872	broad.mit.edu	37	8	67361106	67361106	+	Missense_Mutation	SNP	C	C	G	rs61743396	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr8:67361106C>G	ENST00000396623.3	+	8	666	c.635C>G	c.(634-636)aCt>aGt	p.T212S	ADHFE1_ENST00000415254.1_Missense_Mutation_p.T164S|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T212S	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	212					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TTAGGCATCACTTCGAGAGCC	0.443																																						ENST00000396623.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29						c.(634-636)aCt>aGt		alcohol dehydrogenase, iron containing, 1							187.0	182.0	184.0					8																	67361106		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67361106C>G	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.635C>G	8.37:g.67361106C>G	ENSP00000379865:p.Thr212Ser					ADHFE1_ENST00000415254.1_Missense_Mutation_p.T164S|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T212S|ADHFE1_ENST00000496501.1_3'UTR	p.T212S	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		8	666	+		Lung NSC(129;0.197)	212					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.635C>G	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912805	0.33721	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T;T	0.40225	1.04;1.04;1.04	6.06	5.18	0.71444	Alcohol dehydrogenase, iron-type (1);	0.092791	0.85682	D	0.000000	T	0.13415	0.0325	N	0.00151	-1.98	0.27388	N	0.95524	B	0.06786	0.001	B	0.12156	0.007	T	0.12400	-1.0549	10	0.23302	T	0.38	-11.8261	17.3961	0.87445	0.0:0.8753:0.1247:0.0	.	212	Q8IWW8	HOT_HUMAN	S	212;212;164	ENSP00000368695:T212S;ENSP00000379865:T212S;ENSP00000407115:T164S	ENSP00000368695:T212S	T	+	2	0	ADHFE1	67523660	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	6.092000	0.71414	1.546000	0.49388	0.655000	0.94253	ACT		0.443	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		46	176	0	0	0	1	0	46	176				
ABCA9	10350	broad.mit.edu	37	17	67031890	67031890	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:67031890T>C	ENST00000340001.4	-	7	1064	c.853A>G	c.(853-855)Atg>Gtg	p.M285V	ABCA9_ENST00000370732.2_Missense_Mutation_p.M285V|ABCA9_ENST00000453985.2_Missense_Mutation_p.M285V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	285					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATAAGAGCCATTAAAGTGGCC	0.433																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(853-855)Atg>Gtg		ATP-binding cassette, sub-family A (ABC1), member 9							71.0	67.0	68.0					17																	67031890		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67031890T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.853A>G	17.37:g.67031890T>C	ENSP00000342216:p.Met285Val					ABCA9_ENST00000370732.2_Missense_Mutation_p.M285V|ABCA9_ENST00000453985.2_Missense_Mutation_p.M285V	p.M285V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			7	1064	-	Breast(10;1.47e-12)		285					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.853A>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	8.559	0.877327	0.17395	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87571	-2.27;-2.27	4.58	3.41	0.39046	.	0.122202	0.36519	N	0.002542	D	0.86522	0.5953	M	0.79926	2.475	0.32417	N	0.549919	B;B	0.15473	0.013;0.01	B;B	0.33121	0.02;0.158	D	0.85541	0.1215	10	0.54805	T	0.06	.	5.0028	0.14273	0.1809:0.0:0.1883:0.6308	.	285;285	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	285;268;285;280	ENSP00000342216:M285V;ENSP00000359767:M285V	ENSP00000342216:M285V	M	-	1	0	ABCA9	64543485	0.994000	0.37717	0.925000	0.36789	0.206000	0.24218	2.152000	0.42272	2.062000	0.61559	0.482000	0.46254	ATG		0.433	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		16	29	0	0	0	1	0	16	29				
FAT3	120114	broad.mit.edu	37	11	92533084	92533084	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:92533084T>C	ENST00000298047.6	+	9	6922	c.6905T>C	c.(6904-6906)aTt>aCt	p.I2302T	FAT3_ENST00000409404.2_Missense_Mutation_p.I2302T|FAT3_ENST00000525166.1_Missense_Mutation_p.I2152T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2302	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCTCTTATTGGGACACCT	0.378										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6904-6906)aTt>aCt		FAT atypical cadherin 3							88.0	78.0	81.0					11																	92533084		1890	4108	5998	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533084T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6905T>C	11.37:g.92533084T>C	ENSP00000298047:p.Ile2302Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.I2302T|FAT3_ENST00000525166.1_Missense_Mutation_p.I2152T	p.I2302T			Q8TDW7	FAT3_HUMAN			9	6922	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2302			Cadherin 21.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6905T>C		.	.	.	.	.	.	.	.	.	.	T	16.52	3.145610	0.57044	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59638	0.25;0.25;0.25	5.8	5.8	0.92144	.	.	.	.	.	T	0.75421	0.3847	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74518	-0.3639	9	0.34782	T	0.22	.	16.1435	0.81544	0.0:0.0:0.0:1.0	.	2302	Q8TDW7-3	.	T	2302;2302;2152	ENSP00000298047:I2302T;ENSP00000387040:I2302T;ENSP00000432586:I2152T	ENSP00000298047:I2302T	I	+	2	0	FAT3	92172732	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.975000	0.88055	2.212000	0.71576	0.528000	0.53228	ATT		0.378	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		15	20	0	0	0	1	0	15	20				
RHO	6010	broad.mit.edu	37	3	129251468	129251468	+	Silent	SNP	C	C	T	rs121918590		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:129251468C>T	ENST00000296271.3	+	4	883	c.789C>T	c.(787-789)atC>atT	p.I263I		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	263					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CTTTCCTGATCTGCTGGGTGC	0.582																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	ENST00000296271.3																			0				breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(787-789)atC>atT		rhodopsin	Halothane(DB01159)						218.0	159.0	179.0					3																	129251468		2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251468C>T	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.789C>T	3.37:g.129251468C>T							p.I263I	NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	4	883	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	263					Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.789C>T	CCDS3063.1																																																																																				0.582	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		30	35	0	0	0	1	0	30	35				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			440993							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	30	0	0	0	1	0	7	30				
FEM1A	55527	broad.mit.edu	37	19	4793061	4793061	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:4793061G>A	ENST00000269856.3	+	1	1334	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	399					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAGGGGTGCCGTGTACGCCGA	0.622																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1195-1197)Gtg>Atg		fem-1 homolog a (C. elegans)							54.0	51.0	52.0					19																	4793061		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793061G>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1195G>A	19.37:g.4793061G>A	ENSP00000269856:p.Val399Met					AC005523.2_ENST00000601192.1_RNA	p.V399M	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1334	+		Hepatocellular(1079;0.137)	399					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1195G>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153811	0.57259	.	.	ENSG00000141965	ENST00000269856	T	0.65178	-0.14	4.88	3.85	0.44370	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000004	T	0.79028	0.4377	M	0.86268	2.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.75484	0.986	T	0.79169	-0.1914	10	0.34782	T	0.22	-16.6481	13.0769	0.59091	0.0782:0.0:0.9218:0.0	.	399	Q9BSK4	FEM1A_HUMAN	M	399	ENSP00000269856:V399M	ENSP00000269856:V399M	V	+	1	0	FEM1A	4744061	1.000000	0.71417	0.780000	0.31762	0.521000	0.34408	9.634000	0.98435	1.050000	0.40346	0.491000	0.48974	GTG		0.622	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			32	99	0	0	0	1	0	32	99				
CCDC7	79741	broad.mit.edu	37	10	32760080	32760080	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr10:32760080T>C	ENST00000362006.5	+	7	1142	c.599T>C	c.(598-600)gTa>gCa	p.V200A	CCDC7_ENST00000537047.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.V200A|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000545067.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	200										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTAAGGCTTGTACAAAGATTT	0.313																																						ENST00000362006.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(598-600)gTa>gCa		coiled-coil domain containing 7							52.0	55.0	54.0					10																	32760080		2203	4300	6503	SO:0001583	missense	221016							g.chr10:32760080T>C	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.599T>C	10.37:g.32760080T>C	ENSP00000355078:p.Val200Ala					CCDC7_ENST00000537047.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.V200A	p.V200A	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN			7	1142	+		Breast(68;0.000207)|Prostate(175;0.0107)	200					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.599T>C	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	T	5.105	0.205000	0.09704	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006	T;T	0.34667	1.35;1.35	5.26	2.86	0.33363	.	.	.	.	.	T	0.16981	0.0408	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.20974	-1.0259	9	0.33940	T	0.23	-39.3472	4.6035	0.12364	0.183:0.0923:0.0:0.7246	.	200	Q96M83	CCDC7_HUMAN	A	205;200;200	ENSP00000277657:V200A;ENSP00000355078:V200A	ENSP00000277657:V200A	V	+	2	0	CCDC7	32800086	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.931000	0.28871	0.364000	0.24374	-0.376000	0.06991	GTA		0.313	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		8	17	0	0	0	1	0	8	17				
ABCA6	23460	broad.mit.edu	37	17	67083559	67083559	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:67083559C>G	ENST00000284425.2	-	29	3928	c.3754G>C	c.(3754-3756)Gat>Cat	p.D1252H	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1252					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATATCTTCATCTTCATCTATG	0.373																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(3754-3756)Gat>Cat		ATP-binding cassette, sub-family A (ABC1), member 6							246.0	237.0	240.0					17																	67083559		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67083559C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3754G>C	17.37:g.67083559C>G	ENSP00000284425:p.Asp1252His					ABCA6_ENST00000446604.2_5'UTR	p.D1252H	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			29	3928	-	Breast(10;5.65e-12)		1252					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.3754G>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219933	0.79464	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.92048	-2.96	4.95	4.95	0.65309	.	0.000000	0.48286	D	0.000186	D	0.95859	0.8652	H	0.94808	3.585	0.80722	D	1	P	0.48640	0.913	P	0.49829	0.623	D	0.96968	0.9706	10	0.87932	D	0	.	17.2655	0.87085	0.0:1.0:0.0:0.0	.	1252	Q8N139	ABCA6_HUMAN	H	1252;112	ENSP00000284425:D1252H	ENSP00000284425:D1252H	D	-	1	0	ABCA6	64595154	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.282000	0.58971	2.745000	0.94114	0.655000	0.94253	GAT		0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		4	118	0	0	0	1	0	4	118				
LRRIQ1	84125	broad.mit.edu	37	12	85518261	85518261	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:85518261T>G	ENST00000393217.2	+	17	4032	c.3971T>G	c.(3970-3972)cTg>cGg	p.L1324R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1324										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTCTTTGCTGAGGAATCAC	0.318																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3970-3972)cTg>cGg		leucine-rich repeats and IQ motif containing 1							125.0	144.0	137.0					12																	85518261		2203	4299	6502	SO:0001583	missense	84125							g.chr12:85518261T>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3971T>G	12.37:g.85518261T>G	ENSP00000376910:p.Leu1324Arg						p.L1324R	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	4032	+			1324					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.3971T>G	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	7.264	0.605823	0.14002	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55588	0.51	5.33	0.97	0.19692	.	0.910300	0.09068	N	0.853353	T	0.32645	0.0836	N	0.08118	0	0.09310	N	1	P;P	0.49961	0.93;0.93	P;P	0.48030	0.483;0.564	T	0.17930	-1.0353	10	0.59425	D	0.04	.	0.2043	0.00149	0.2481:0.1667:0.2109:0.3744	.	1324;1299	Q96JM4;C9JI57	LRIQ1_HUMAN;.	R	1324;1299;1324	ENSP00000376910:L1324R	ENSP00000256007:L1324R	L	+	2	0	LRRIQ1	84042392	0.027000	0.19231	0.004000	0.12327	0.042000	0.13812	0.345000	0.19979	0.402000	0.25451	-0.346000	0.07831	CTG		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		8	219	0	0	0	1	0	8	219				
BCHE	590	broad.mit.edu	37	3	165548003	165548003	+	Silent	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:165548003G>A	ENST00000264381.3	-	2	985	c.819C>T	c.(817-819)aaC>aaT	p.N273N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	273					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ATTTAGCTAAGTTCAACGTTC	0.393																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(817-819)aaC>aaT		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						98.0	102.0	101.0					3																	165548003		2203	4299	6502	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548003G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.819C>T	3.37:g.165548003G>A						BCHE_ENST00000540653.1_Intron	p.N273N	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	985	-			273					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.819C>T	CCDS3198.1																																																																																				0.393	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			62	53	0	0	0	1	0	62	53				
REST	5978	broad.mit.edu	37	4	57777618	57777618	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:57777618C>A	ENST00000309042.7	+	2	1128	c.814C>A	c.(814-816)Cca>Aca	p.P272T	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	272					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAACCATTTTCCAAGGAAAGT	0.378																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(814-816)Cca>Aca		RE1-silencing transcription factor							56.0	56.0	56.0					4																	57777618		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777618C>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.814C>A	4.37:g.57777618C>A	ENSP00000311816:p.Pro272Thr					REST_ENST00000514063.1_3'UTR	p.P272T	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	1128	+	Glioma(25;0.08)|all_neural(26;0.181)		272					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.814C>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116492	0.77323	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.27720	1.65	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000004	T	0.41880	0.1178	N	0.16743	0.435	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.85130	0.847;0.997	T	0.38243	-0.9670	10	0.49607	T	0.09	-9.1433	18.6399	0.91392	0.0:1.0:0.0:0.0	.	272;272	Q13127-2;Q13127	.;REST_HUMAN	T	272	ENSP00000311816:P272T	ENSP00000311816:P272T	P	+	1	0	REST	57472375	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.594000	0.82698	2.749000	0.94314	0.655000	0.94253	CCA		0.378	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		13	35	1	0	9.31168e-06	1	9.85306e-06	13	35				
LYST	1130	broad.mit.edu	37	1	235969554	235969554	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:235969554G>C	ENST00000389794.3	-	6	3056	c.2882C>G	c.(2881-2883)gCa>gGa	p.A961G	LYST_ENST00000389793.2_Missense_Mutation_p.A961G|LYST_ENST00000536965.1_Missense_Mutation_p.A961G			Q99698	LYST_HUMAN	lysosomal trafficking regulator	961					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCAAATGTCTGCTGCTTGGTG	0.448																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(2881-2883)gCa>gGa		lysosomal trafficking regulator							104.0	99.0	101.0					1																	235969554		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969554G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2882C>G	1.37:g.235969554G>C	ENSP00000374444:p.Ala961Gly					LYST_ENST00000389793.2_Missense_Mutation_p.A961G|LYST_ENST00000536965.1_Missense_Mutation_p.A961G	p.A961G			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3056	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	961					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2882C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892458	0.91889	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.75938	-0.98;-0.98;0.16	5.6	5.6	0.85130	.	0.149891	0.64402	D	0.000013	D	0.85435	0.5696	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86232	0.1638	10	0.87932	D	0	.	19.2355	0.93856	0.0:0.0:1.0:0.0	.	961;961	Q99698-3;Q99698	.;LYST_HUMAN	G	961	ENSP00000374444:A961G;ENSP00000374443:A961G;ENSP00000438315:A961G	ENSP00000374443:A961G	A	-	2	0	LYST	234036177	1.000000	0.71417	0.994000	0.49952	0.907000	0.53573	9.624000	0.98398	2.636000	0.89361	0.655000	0.94253	GCA		0.448	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			33	105	0	0	0	1	0	33	105				
ADH5	128	broad.mit.edu	37	4	99997692	99997692	+	Silent	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:99997692G>A	ENST00000296412.8	-	6	626	c.576C>T	c.(574-576)ggC>ggT	p.G192G	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		CACAAACAGAGCCAGGCTCCA	0.453																																						ENST00000296412.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13						c.(574-576)ggC>ggT		alcohol dehydrogenase 5 (class III), chi polypeptide	NADH(DB00157)						41.0	39.0	40.0					4																	99997692		1900	4122	6022	SO:0001819	synonymous_variant	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:99997692G>A	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.576C>T	4.37:g.99997692G>A						ADH5_ENST00000512991.1_5'UTR	p.G192G	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	6	626	-			192						Silent	SNP	ENST00000296412.8	37	c.576C>T	CCDS47111.1																																																																																				0.453	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		24	30	0	0	0	1	0	24	30				
MCTP2	55784	broad.mit.edu	37	15	94841761	94841761	+	Silent	SNP	C	C	T	rs369927686		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr15:94841761C>T	ENST00000357742.4	+	1	267	c.267C>T	c.(265-267)ccC>ccT	p.P89P	MCTP2_ENST00000451018.3_Silent_p.P89P|MCTP2_ENST00000543482.1_Silent_p.P89P|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	89					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGATCTTTCCCAAGAGCAGCA	0.577																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(265-267)ccC>ccT		multiple C2 domains, transmembrane 2							68.0	69.0	69.0					15																	94841761		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94841761C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.267C>T	15.37:g.94841761C>T						MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.P89P|MCTP2_ENST00000543482.1_Silent_p.P89P	p.P89P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		1	267	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		89					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.267C>T	CCDS32338.1																																																																																				0.577	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		94	24	0	0	0	1	0	94	24				
GPR156	165829	broad.mit.edu	37	3	119887190	119887190	+	Silent	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:119887190G>A	ENST00000464295.1	-	10	1579	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	GPR156_ENST00000315843.3_Silent_p.N378N|GPR156_ENST00000461057.1_Silent_p.N374N			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	378						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TCTCTTTGGCGTTGTTTACTT	0.507																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1132-1134)aaC>aaT		G protein-coupled receptor 156							53.0	56.0	55.0					3																	119887190		2203	4297	6500	SO:0001819	synonymous_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119887190G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1134C>T	3.37:g.119887190G>A						GPR156_ENST00000315843.3_Silent_p.N378N|GPR156_ENST00000461057.1_Silent_p.N374N	p.N378N			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	1579	-			378					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	c.1134C>T	CCDS2997.1																																																																																				0.507	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		24	63	0	0	0	1	0	24	63				
COL1A1	1277	broad.mit.edu	37	17	48267696	48267696	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:48267696C>A	ENST00000225964.5	-	35	2561	c.2443G>T	c.(2443-2445)Ggc>Tgc	p.G815C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	815	Triple-helical region.		G -> V (in OI2). {ECO:0000269|PubMed:1874719}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	ACAGGGGGGCCAGCAAAGCCA	0.607			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(2443-2445)Ggc>Tgc		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						34.0	40.0	38.0					17																	48267696		2201	4300	6501	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48267696C>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2443G>T	17.37:g.48267696C>A	ENSP00000225964:p.Gly815Cys						p.G815C	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			35	2561	-			815		G -> V (in OI2A).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.2443G>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971862	0.74246	.	.	ENSG00000108821	ENST00000225964	D	0.99637	-6.29	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96530	0.9392	10	0.87932	D	0	.	17.1845	0.86863	0.0:1.0:0.0:0.0	.	815	P02452	CO1A1_HUMAN	C	815	ENSP00000225964:G815C	ENSP00000225964:G815C	G	-	1	0	COL1A1	45622695	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.770000	0.85390	2.357000	0.79964	0.462000	0.41574	GGC		0.607	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			31	56	1	0	3.11337e-16	1	3.41346e-16	31	56				
RASGRF1	5923	broad.mit.edu	37	15	79307681	79307681	+	Missense_Mutation	SNP	G	G	A	rs200752675		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr15:79307681G>A	ENST00000419573.3	-	13	2088	c.1814C>T	c.(1813-1815)cCg>cTg	p.P605L	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P605L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	605					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATCATCTGCGGCACAGTGAC	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20530	0.0		0.0	False		,,,				2504	0.0					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1813-1815)cCg>cTg		Ras protein-specific guanine nucleotide-releasing factor 1							173.0	140.0	151.0					15																	79307681		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79307681G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1814C>T	15.37:g.79307681G>A	ENSP00000405963:p.Pro605Leu					RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.P605L	p.P605L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			13	2088	-			605					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1814C>T	CCDS10309.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.68	3.450533	0.63290	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.79454	-1.27	3.68	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.86977	0.6063	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.987;0.991;0.994;0.998	D	0.87290	0.2298	10	0.44086	T	0.13	.	12.9675	0.58492	0.0:0.0:1.0:0.0	.	14;605;605;605;605	B7Z6Z6;A8K270;Q8IUU5;Q13972;F8VPA5	.;.;.;RGRF1_HUMAN;.	L	605	ENSP00000405963:P605L	ENSP00000378224:P605L	P	-	2	0	RASGRF1	77094736	1.000000	0.71417	0.119000	0.21687	0.683000	0.39861	9.308000	0.96247	1.873000	0.54277	0.484000	0.47621	CCG		0.517	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		47	18	0	0	0	1	0	47	18				
FAR1	84188	broad.mit.edu	37	11	13721993	13721993	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:13721993A>G	ENST00000354817.3	+	3	463	c.319A>G	c.(319-321)Att>Gtt	p.I107V		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	107					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TTCTACCAATATTATATTCCA	0.303																																						ENST00000354817.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(319-321)Att>Gtt		fatty acyl CoA reductase 1							59.0	65.0	63.0					11																	13721993		2200	4292	6492	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13721993A>G	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.319A>G	11.37:g.13721993A>G	ENSP00000346874:p.Ile107Val						p.I107V	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN			3	463	+			107					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.319A>G	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.349844	0.24426	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.27557	1.66;1.66	5.77	3.4	0.38934	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.260887	0.43919	N	0.000505	T	0.19127	0.0459	N	0.16833	0.445	0.80722	D	1	B;B	0.30326	0.276;0.004	B;B	0.37508	0.252;0.029	T	0.06807	-1.0806	10	0.17369	T	0.5	-6.736	7.863	0.29520	0.788:0.1389:0.0731:0.0	.	107;107	E7ETC1;Q8WVX9	.;FACR1_HUMAN	V	107	ENSP00000346874:I107V;ENSP00000437111:I107V	ENSP00000346874:I107V	I	+	1	0	FAR1	13678569	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.524000	0.45589	0.509000	0.28195	0.533000	0.62120	ATT		0.303	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		17	44	0	0	0	1	0	17	44				
NDE1	54820	broad.mit.edu	37	16	15758653	15758653	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr16:15758653G>C	ENST00000396353.2	+	3	844	c.18G>C	c.(16-18)aaG>aaC	p.K6N	NDE1_ENST00000396354.1_Missense_Mutation_p.K6N|NDE1_ENST00000396355.1_Missense_Mutation_p.K6N|NDE1_ENST00000342673.5_Missense_Mutation_p.K6N			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	6	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ACTCCGGAAAGACTTTCAGCT	0.453																																						ENST00000396355.1																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(16-18)aaG>aaC		nudE neurodevelopment protein 1							135.0	134.0	135.0					16																	15758653		2197	4300	6497	SO:0001583	missense	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15758653G>C	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.18G>C	16.37:g.15758653G>C	ENSP00000379641:p.Lys6Asn					NDE1_ENST00000342673.5_Missense_Mutation_p.K6N|NDE1_ENST00000396354.1_Missense_Mutation_p.K6N|NDE1_ENST00000396353.2_Missense_Mutation_p.K6N	p.K6N	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			3	844	+			6			Self-association (By similarity).		Q49AQ2	Missense_Mutation	SNP	ENST00000396353.2	37	c.18G>C		.	.	.	.	.	.	.	.	.	.	G	11.13	1.547572	0.27652	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.02	1.78	0.24846	.	0.459270	0.25520	N	0.030114	T	0.09598	0.0236	N	0.02697	-0.525	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.11329	0.002;0.006	T	0.15954	-1.0419	9	0.26408	T	0.33	-30.6231	1.5624	0.02597	0.1796:0.1305:0.4629:0.227	.	6;6	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	N	6	.	ENSP00000345892:K6N	K	+	3	2	NDE1	15666154	0.591000	0.26824	0.983000	0.44433	0.905000	0.53344	0.416000	0.21198	0.622000	0.30249	0.655000	0.94253	AAG		0.453	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		33	178	0	0	0	1	0	33	178				
COLEC11	78989	broad.mit.edu	37	2	3691474	3691474	+	Silent	SNP	G	G	T	rs374212450		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:3691474G>T	ENST00000349077.4	+	7	685	c.582G>T	c.(580-582)gcG>gcT	p.A194A	COLEC11_ENST00000403096.3_Silent_p.A168A|COLEC11_ENST00000236693.7_Silent_p.A191A|COLEC11_ENST00000402794.1_Silent_p.A144A|COLEC11_ENST00000418971.2_Silent_p.A208A|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Silent_p.A144A|COLEC11_ENST00000382062.2_Silent_p.A170A|COLEC11_ENST00000404205.1_Silent_p.A120A	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	194	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CATACCTGGCGCAAGCCGGCC	0.662																																						ENST00000403096.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(502-504)gcG>gcT		collectin sub-family member 11							37.0	42.0	40.0					2																	3691474		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3691474G>T	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.582G>T	2.37:g.3691474G>T						COLEC11_ENST00000402922.1_Silent_p.A144A|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.A120A|COLEC11_ENST00000402794.1_Silent_p.A144A|COLEC11_ENST00000382062.2_Silent_p.A170A|COLEC11_ENST00000349077.4_Silent_p.A194A|COLEC11_ENST00000236693.7_Silent_p.A191A|COLEC11_ENST00000418971.2_Silent_p.A208A	p.A168A	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	995	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		194			C-type lectin.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.504G>T	CCDS1649.1																																																																																				0.662	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		24	54	1	0	2.52088e-20	1	2.79756e-20	24	54				
ARHGAP39	80728	broad.mit.edu	37	8	145756232	145756232	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr8:145756232G>A	ENST00000276826.5	-	9	3112	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	C8orf82_ENST00000524821.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R971W|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1002W|C8orf82_ENST00000313465.5_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	971	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCCAGCTCCCGGTACCACAGC	0.711																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2911-2913)Cgg>Tgg		Rho GTPase activating protein 39							35.0	33.0	34.0					8																	145756232		2190	4297	6487	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145756232G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2911C>T	8.37:g.145756232G>A	ENSP00000276826:p.Arg971Trp					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1002W|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R971W	p.R971W			Q9C0H5	RHG39_HUMAN			9	3112	-			971			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2911C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.470038	0.84533	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.28895	1.59;1.59;1.59	5.19	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.130508	0.49916	D	0.000139	T	0.69922	0.3165	H	0.98818	4.34	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.917	T	0.81551	-0.0881	10	0.87932	D	0	-51.5614	12.6733	0.56880	0.0:0.0:0.8334:0.1666	.	971;1002	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	W	971;1002;971	ENSP00000276826:R971W;ENSP00000366522:R1002W;ENSP00000445075:R971W	ENSP00000276826:R971W	R	-	1	2	ARHGAP39	145727040	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.300000	0.59079	1.136000	0.42199	0.561000	0.74099	CGG		0.711	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			11	64	0	0	0	1	0	11	64				
GPR68	8111	broad.mit.edu	37	14	91701363	91701363	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:91701363A>G	ENST00000531499.2	-	2	371	c.32T>C	c.(31-33)aTg>aCg	p.M11T	GPR68_ENST00000535815.1_Missense_Mutation_p.M11T|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000238699.3_Missense_Mutation_p.M21T			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	11					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		GGTACAGCTCATCGAGGAGTT	0.612																																						ENST00000535815.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(31-33)aTg>aCg		G protein-coupled receptor 68							101.0	87.0	92.0					14																	91701363		2203	4300	6503	SO:0001583	missense	8111				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91701363A>G	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.32T>C	14.37:g.91701363A>G	ENSP00000434045:p.Met11Thr					GPR68_ENST00000238699.3_Missense_Mutation_p.M21T|GPR68_ENST00000531499.2_Missense_Mutation_p.M11T	p.M11T	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	372	-		all_cancers(154;0.0555)	11					Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.32T>C	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.070478	0.00379	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.06	-0.17	0.13335	.	1.691230	0.03509	N	0.219231	T	0.13243	0.0321	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12811	-1.0533	10	0.21014	T	0.42	.	0.378	0.00390	0.2972:0.1313:0.2548:0.3167	.	11;11	Q6NWR5;Q15743	.;OGR1_HUMAN	T	11;21;11;11	ENSP00000434045:M11T;ENSP00000238699:M21T;ENSP00000440797:M11T;ENSP00000432740:M11T	ENSP00000238699:M21T	M	-	2	0	GPR68	90771116	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.622000	0.24433	0.084000	0.17077	-0.333000	0.08304	ATG		0.612	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			20	47	0	0	0	1	0	20	47				
PRICKLE3	4007	broad.mit.edu	37	X	49032432	49032432	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chrX:49032432G>T	ENST00000376317.3	-	9	1532	c.1438C>A	c.(1438-1440)Ctg>Atg	p.L480M	PRICKLE3_ENST00000538114.1_Missense_Mutation_p.L316M|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.L412M|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.L399M	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	480				Missing (in Ref. 7; AAB92357). {ECO:0000305}.			zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCAGACACCAGAGGGTCGCGG	0.741																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1438-1440)Ctg>Atg		prickle homolog 3 (Drosophila)							10.0	11.0	11.0					X																	49032432		2186	4267	6453	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49032432G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1438C>A	X.37:g.49032432G>T	ENSP00000365494:p.Leu480Met					PRICKLE3_ENST00000540849.1_Missense_Mutation_p.L412M|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.L399M|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.L316M	p.L480M	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN			9	1532	-			480	Missing (in Ref. 5; AAB92357).				B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1438C>A	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.65|16.65	3.181232|3.181232	0.57800|0.57800	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114|ENST00000453382	T;T;T;T|.	0.71341|.	-0.47;-0.48;-0.48;-0.56|.	4.15|4.15	3.27|3.27	0.37495|0.37495	.|.	0.000000|.	0.30714|.	N|.	0.009022|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.24115|0.24115	0.695|0.695	0.28320|0.28320	N|N	0.922265|0.922265	D;D;D|.	0.65815|.	0.995;0.976;0.985|.	P;P;P|.	0.59221|.	0.854;0.735;0.832|.	T|T	0.20140|0.20140	-1.0284|-1.0284	10|5	0.72032|.	D|.	0.01|.	-3.0766|-3.0766	7.2458|7.2458	0.26121|0.26121	0.126:0.0:0.874:0.0|0.126:0.0:0.874:0.0	.|.	442;399;480|.	B7Z6S4;B7Z8F2;O43900|.	.;.;PRIC3_HUMAN|.	M|Y	480;399;412;316|492	ENSP00000365494:L480M;ENSP00000441385:L399M;ENSP00000446051:L412M;ENSP00000441743:L316M|.	ENSP00000365494:L480M|.	L|S	-|-	1|2	2|0	PRICKLE3|PRICKLE3	48919376|48919376	0.906000|0.906000	0.30813|0.30813	1.000000|1.000000	0.80357|0.80357	0.860000|0.860000	0.49131|0.49131	1.565000|1.565000	0.36386|0.36386	0.773000|0.773000	0.33404|0.33404	0.502000|0.502000	0.49764|0.49764	CTG|TCT		0.741	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		5	7	1	0	0.000602214	1	0.000615747	5	7				
HMCN1	83872	broad.mit.edu	37	1	186114938	186114938	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:186114938G>A	ENST00000271588.4	+	93	14720	c.14491G>A	c.(14491-14493)Gga>Aga	p.G4831R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4831R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4831	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCCTCCTGTGGAGGAGGTGA	0.532																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14491-14493)Gga>Aga		hemicentin 1							73.0	71.0	72.0					1																	186114938		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114938G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14491G>A	1.37:g.186114938G>A	ENSP00000271588:p.Gly4831Arg					HMCN1_ENST00000367492.2_Missense_Mutation_p.G4831R	p.G4831R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			93	14720	+			4831			TSP type-1 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14491G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217208	0.95104	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.70749	-0.51;-0.51	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92361	0.5897	10	0.87932	D	0	.	19.2606	0.93967	0.0:0.0:1.0:0.0	.	4831	Q96RW7	HMCN1_HUMAN	R	4831	ENSP00000271588:G4831R;ENSP00000356462:G4831R	ENSP00000271588:G4831R	G	+	1	0	HMCN1	184381561	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.372000	0.73123	2.551000	0.86045	0.655000	0.94253	GGA		0.532	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		37	96	0	0	0	1	0	37	96				
TGFBR2	7048	broad.mit.edu	37	3	30732969	30732969	+	Missense_Mutation	SNP	C	C	T	rs104893810		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:30732969C>T	ENST00000295754.5	+	7	1964	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	528	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2). {ECO:0000269|PubMed:15731757}.|R -> H (in LDS2). {ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16959974}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R528C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCCAGAGGCCCGTCTCACAGC	0.597																																						ENST00000295754.5																			2	Substitution - Missense(2)	p.R528C(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM050761	TGFBR2	M	rs104893810	c.(1582-1584)Cgt>Tgt		transforming growth factor, beta receptor II (70/80kDa)							73.0	68.0	69.0					3																	30732969		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732969C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1582C>T	3.37:g.30732969C>T	ENSP00000295754:p.Arg528Cys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.R553C	p.R528C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1964	+			528		R -> C (in LDS1B).|R -> H (in LDS1B).	Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1582C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324023	0.95708	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99270	-5.66;-5.66	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99732	0.9895	H	0.98507	4.25	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97303	0.9932	9	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	528;553	P37173;D2JYI1	TGFR2_HUMAN;.	C	528;553;358	ENSP00000295754:R528C;ENSP00000351905:R553C	ENSP00000295754:R528C	R	+	1	0	TGFBR2	30707973	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	5.968000	0.70413	2.803000	0.96430	0.650000	0.86243	CGT		0.597	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			28	36	0	0	0	1	0	28	36				
SUPT16H	11198	broad.mit.edu	37	14	21837411	21837411	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:21837411G>A	ENST00000216297.2	-	6	1072	c.734C>T	c.(733-735)cCt>cTt	p.P245L		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	245					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTGAATGATAGGAGGGTAACA	0.408																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(733-735)cCt>cTt		suppressor of Ty 16 homolog (S. cerevisiae)							107.0	106.0	106.0					14																	21837411		2203	4297	6500	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21837411G>A	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.734C>T	14.37:g.21837411G>A	ENSP00000216297:p.Pro245Leu						p.P245L	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	6	1072	-	all_cancers(95;0.00115)		245					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.734C>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352990	0.95830	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	T	0.79141	-1.24	5.94	5.94	0.96194	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	M	0.93507	3.425	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.92854	0.6300	10	0.87932	D	0	-11.8862	19.1308	0.93406	0.0:0.0:1.0:0.0	.	245	Q9Y5B9	SP16H_HUMAN	L	245	ENSP00000216297:P245L	ENSP00000216297:P245L	P	-	2	0	SUPT16H	20907251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.272000	0.95707	2.822000	0.97130	0.557000	0.71058	CCT		0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			23	47	0	0	0	1	0	23	47				
FAM193A	8603	broad.mit.edu	37	4	2632856	2632856	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:2632856G>C	ENST00000324666.5	+	3	476	c.125G>C	c.(124-126)tGc>tCc	p.C42S	FAM193A_ENST00000505311.1_Missense_Mutation_p.C42S|FAM193A_ENST00000382839.3_Missense_Mutation_p.C42S|FAM193A_ENST00000502458.1_Missense_Mutation_p.C42S|FAM193A_ENST00000545951.1_Missense_Mutation_p.C42S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	42										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGCGCCCTCTGCCAGGCCGCA	0.587																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(124-126)tGc>tCc		family with sequence similarity 193, member A							57.0	55.0	56.0					4																	2632856		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2632856G>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.125G>C	4.37:g.2632856G>C	ENSP00000324587:p.Cys42Ser					FAM193A_ENST00000505311.1_Missense_Mutation_p.C42S|FAM193A_ENST00000502458.1_Missense_Mutation_p.C42S|FAM193A_ENST00000382839.3_Missense_Mutation_p.C42S|FAM193A_ENST00000545951.1_Missense_Mutation_p.C42S	p.C42S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			3	476	+			42					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.125G>C	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122429	0.94429	.	.	ENSG00000125386	ENST00000509050;ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.34472	1.37;1.77;1.36;1.43	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.997;0.997	T	0.60291	-0.7292	10	0.87932	D	0	-22.6044	18.5119	0.90920	0.0:0.0:1.0:0.0	.	42;42;42;42;42	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	S	42	ENSP00000372290:C42S;ENSP00000324587:C42S;ENSP00000443617:C42S;ENSP00000427505:C42S	ENSP00000324587:C42S	C	+	2	0	FAM193A	2602654	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.428000	0.97476	2.608000	0.88229	0.655000	0.94253	TGC		0.587	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		15	86	0	0	0	1	0	15	86				
DSCAML1	57453	broad.mit.edu	37	11	117391933	117391933	+	Silent	SNP	C	C	T	rs147591517		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:117391933C>T	ENST00000321322.6	-	6	1306	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S	DSCAML1_ENST00000527706.1_Silent_p.S165S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	375	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTGGGCCGAGGTGATGA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		15127	0.0		0.0	False		,,,				2504	0.001					ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1303-1305)tcG>tcA		Down syndrome cell adhesion molecule like 1		C		0,4402		0,0,2201	116.0	100.0	105.0		1305	-3.4	1.0	11	dbSNP_134	105	3,8589	3.0+/-9.4	0,3,4293	no	coding-synonymous	DSCAML1	NM_020693.2		0,3,6494	TT,TC,CC		0.0349,0.0,0.0231		435/2114	117391933	3,12991	2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117391933C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1305G>A	11.37:g.117391933C>T						DSCAML1_ENST00000527706.1_Silent_p.S165S	p.S435S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	6	1306	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	375			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.1305G>A	CCDS8384.1																																																																																				0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		66	211	0	0	0	1	0	66	211				
HTR3C	170572	broad.mit.edu	37	3	183777668	183777668	+	Silent	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:183777668C>T	ENST00000318351.1	+	8	1012	c.978C>T	c.(976-978)acC>acT	p.T326T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	326					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TGCTGGAGACCGTCTTCATTA	0.562																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(976-978)acC>acT		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							137.0	129.0	131.0					3																	183777668		2203	4300	6503	SO:0001819	synonymous_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777668C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.978C>T	3.37:g.183777668C>T							p.T326T	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		8	1012	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		326					A2RRR5	Silent	SNP	ENST00000318351.1	37	c.978C>T	CCDS3250.1																																																																																				0.562	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		32	140	0	0	0	1	0	32	140				
KMT2B	9757	broad.mit.edu	37	19	36221489	36221489	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:36221489G>A	ENST00000222270.7	+	25	5248	c.5248G>A	c.(5248-5250)Gag>Aag	p.E1750K	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E1750K	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1750	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTCGGACTGCGAGGGACGGCT	0.607																																						ENST00000420124.1																			0											c.(5248-5250)Gag>Aag									211.0	220.0	217.0					19																	36221489		2158	4244	6402	SO:0001583	missense	9757							g.chr19:36221489G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5248G>A	19.37:g.36221489G>A	ENSP00000222270:p.Glu1750Lys					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.E1750K	p.E1750K							25	5248	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5248G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722891	0.48728	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.78126	-1.15;-1.15	5.79	5.79	0.91817	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.45361	D	0.000367	T	0.75693	0.3884	L	0.49126	1.545	0.46260	D	0.998954	P	0.48834	0.916	B	0.42422	0.387	T	0.75525	-0.3287	10	0.37606	T	0.19	.	18.7978	0.92003	0.0:0.0:1.0:0.0	.	1750	Q9UMN6	MLL4_HUMAN	K	1750	ENSP00000222270:E1750K;ENSP00000398837:E1750K	ENSP00000222270:E1750K	E	+	1	0	AD000671.1	40913329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.203000	0.58453	2.735000	0.93741	0.655000	0.94253	GAG		0.607	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	393	0	0	0	1	0	7	393				
C4orf22	255119	broad.mit.edu	37	4	81504291	81504291	+	Missense_Mutation	SNP	C	C	T	rs142731425		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:81504291C>T	ENST00000358105.3	+	3	336	c.287C>T	c.(286-288)aCg>aTg	p.T96M	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	96										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AATTTTCTGACGGCCCTGGCA	0.353													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13447	0.0		0.0	False		,,,				2504	0.0					ENST00000358105.3																			0				NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						c.(286-288)aCg>aTg		chromosome 4 open reading frame 22		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	81.0	80.0	80.0		287,287	1.8	1.0	4	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C4orf22	NM_001206997.1,NM_152770.2	81,81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	96/251,96/234	81504291	2,13004	2203	4300	6503	SO:0001583	missense	255119							g.chr4:81504291C>T	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.287C>T	4.37:g.81504291C>T	ENSP00000350818:p.Thr96Met					C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M	p.T96M	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN			3	336	+			96					E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	c.287C>T	CCDS3587.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036334	0.07497	2.27E-4	1.16E-4	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.30448	1.53;1.53	5.55	1.79	0.24919	.	0.190189	0.43110	N	0.000604	T	0.12092	0.0294	N	0.08118	0	0.26925	N	0.966598	B;B	0.20887	0.039;0.049	B;B	0.19391	0.021;0.025	T	0.16188	-1.0411	10	0.27082	T	0.32	.	3.2936	0.06958	0.5331:0.2648:0.0705:0.1316	.	96;96	E7EQ13;Q6V702	.;CD022_HUMAN	M	96	ENSP00000350818:T96M;ENSP00000425786:T96M	ENSP00000350818:T96M	T	+	2	0	C4orf22	81723315	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	1.547000	0.36190	0.171000	0.19730	-2.610000	0.00160	ACG		0.353	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770		14	55	0	0	0	1	0	14	55				
MYH10	4628	broad.mit.edu	37	17	8393845	8393845	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:8393845C>T	ENST00000269243.4	-	33	4742	c.4604G>A	c.(4603-4605)cGg>cAg	p.R1535Q	MYH10_ENST00000396239.1_Missense_Mutation_p.R1556Q|MYH10_ENST00000360416.3_Missense_Mutation_p.R1566Q|MYH10_ENST00000379980.4_Missense_Mutation_p.R1551Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1535					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCTAGGGCCCGTTTGGATTT	0.522																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4696-4698)cGg>cAg		myosin, heavy chain 10, non-muscle							86.0	82.0	83.0					17																	8393845		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8393845C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4604G>A	17.37:g.8393845C>T	ENSP00000269243:p.Arg1535Gln					MYH10_ENST00000396239.1_Missense_Mutation_p.R1556Q|MYH10_ENST00000379980.4_Missense_Mutation_p.R1551Q|MYH10_ENST00000269243.4_Missense_Mutation_p.R1535Q	p.R1566Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			35	4835	-			1535					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4697G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	36	5.810580	0.96975	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	4.88	4.88	0.63580	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	H	0.94423	3.535	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.76575	0.988;0.972;0.988	D	0.94445	0.7662	10	0.87932	D	0	.	18.5837	0.91181	0.0:1.0:0.0:0.0	.	1544;1566;1535	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1535;1566;1556;1551	ENSP00000269243:R1535Q;ENSP00000353590:R1566Q;ENSP00000379539:R1556Q;ENSP00000369315:R1551Q	ENSP00000269243:R1535Q	R	-	2	0	MYH10	8334570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.603000	0.82811	2.689000	0.91719	0.655000	0.94253	CGG		0.522	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			4	94	0	0	0	1	0	4	94				
FRY	10129	broad.mit.edu	37	13	32812053	32812053	+	Silent	SNP	G	G	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr13:32812053G>T	ENST00000380250.3	+	44	6844	c.6348G>T	c.(6346-6348)ctG>ctT	p.L2116L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2116						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACAGACCTGACCCTGCAGC	0.542																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(6346-6348)ctG>ctT		furry homolog (Drosophila)							84.0	86.0	86.0					13																	32812053		2074	4219	6293	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32812053G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6348G>T	13.37:g.32812053G>T							p.L2116L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	44	6844	+		Lung SC(185;0.0271)	2116					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.6348G>T	CCDS41875.1																																																																																				0.542	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		43	86	1	0	9.39024e-22	1	1.05495e-21	43	86				
BTBD7	55727	broad.mit.edu	37	14	93760714	93760714	+	Missense_Mutation	SNP	C	C	T	rs374507319		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:93760714C>T	ENST00000334746.5	-	3	959	c.652G>A	c.(652-654)Gat>Aat	p.D218N	BTBD7_ENST00000555525.1_Missense_Mutation_p.D218N|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.D218N|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	218					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACAAGGATATCGACATTTTGA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		20773	0.0		0.001	False		,,,				2504	0.0					ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(652-654)Gat>Aat		BTB (POZ) domain containing 7		C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	72.0	69.0	70.0		652,652	4.7	1.0	14		70	0,8600		0,0,4300	no	missense,missense	BTBD7	NM_018167.3,NM_001002860.2	23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	218/411,218/1133	93760714	1,13005	2203	4300	6503	SO:0001583	missense	55727							g.chr14:93760714C>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.652G>A	14.37:g.93760714C>T	ENSP00000335615:p.Asp218Asn					BTBD7_ENST00000555525.1_Missense_Mutation_p.D218N|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.D218N	p.D218N	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	959	-		all_cancers(154;0.08)	218					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.652G>A	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640156	0.67244	2.27E-4	0.0	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T;T;T	0.67865	-0.29;-0.29;-0.29	5.57	4.68	0.58851	BTB/POZ-like (1);BTB/POZ (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	L	0.48877	1.53	0.80722	D	1	B;B;B	0.23185	0.025;0.045;0.081	B;B;B	0.17979	0.005;0.008;0.02	T	0.52697	-0.8541	10	0.12766	T	0.61	.	14.6234	0.68602	0.0:0.9296:0.0:0.0704	.	218;218;218	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	N	218	ENSP00000335615:D218N;ENSP00000298896:D218N;ENSP00000451408:D218N	ENSP00000298896:D218N	D	-	1	0	BTBD7	92830467	1.000000	0.71417	0.976000	0.42696	0.989000	0.77384	7.487000	0.81328	1.357000	0.45904	0.650000	0.86243	GAT		0.383	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		18	33	0	0	0	1	0	18	33				
EVX2	344191	broad.mit.edu	37	2	176948135	176948135	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:176948135C>T	ENST00000308618.4	-	1	506	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	124					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GAGCGAAGCGCGGAGCAGCCC	0.672																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(370-372)Gcg>Acg		even-skipped homeobox 2							19.0	24.0	22.0					2																	176948135		2201	4299	6500	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948135C>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.370G>A	2.37:g.176948135C>T	ENSP00000312385:p.Ala124Thr						p.A124T	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	506	-			124						Missense_Mutation	SNP	ENST00000308618.4	37	c.370G>A	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827795	0.50845	.	.	ENSG00000174279	ENST00000308618	D	0.91686	-2.89	5.43	4.55	0.56014	.	0.270936	0.35151	N	0.003417	D	0.86977	0.6063	L	0.31926	0.97	0.36968	D	0.893672	B	0.25312	0.123	B	0.10450	0.005	D	0.85403	0.1132	10	0.40728	T	0.16	-9.3577	14.4602	0.67442	0.0:0.929:0.0:0.071	.	124	Q03828	EVX2_HUMAN	T	124	ENSP00000312385:A124T	ENSP00000312385:A124T	A	-	1	0	EVX2	176656381	0.879000	0.30193	0.847000	0.33407	0.816000	0.46133	1.762000	0.38451	1.292000	0.44672	0.655000	0.94253	GCG		0.672	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			9	26	0	0	0	1	0	9	26				
GUCY2C	2984	broad.mit.edu	37	12	14827630	14827630	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:14827630A>G	ENST00000261170.3	-	8	1149	c.1013T>C	c.(1012-1014)aTa>aCa	p.I338T	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	338					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTCAAGAAATATCTTCAGCAT	0.368																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1012-1014)aTa>aCa		guanylate cyclase 2C (heat stable enterotoxin receptor)							93.0	100.0	98.0					12																	14827630		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14827630A>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1013T>C	12.37:g.14827630A>G	ENSP00000261170:p.Ile338Thr					RP11-174G6.1_ENST00000501178.2_RNA	p.I338T	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			8	1149	-			338					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1013T>C	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.632480	0.00806	.	.	ENSG00000070019	ENST00000261170	T	0.73152	-0.72	5.68	-11.4	0.00090	Extracellular ligand-binding receptor (1);	0.711761	0.14807	N	0.297260	T	0.33673	0.0871	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32587	-0.9901	10	0.21540	T	0.41	.	13.1095	0.59265	0.094:0.0:0.6521:0.2539	.	338	P25092	GUC2C_HUMAN	T	338	ENSP00000261170:I338T	ENSP00000261170:I338T	I	-	2	0	GUCY2C	14718897	0.149000	0.22717	0.002000	0.10522	0.033000	0.12548	-0.767000	0.04720	-3.246000	0.00205	-1.844000	0.00574	ATA		0.368	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			41	72	0	0	0	1	0	41	72				
SHPRH	257218	broad.mit.edu	37	6	146273490	146273490	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr6:146273490A>G	ENST00000367505.2	-	3	1022	c.758T>C	c.(757-759)aTt>aCt	p.I253T	SHPRH_ENST00000367503.3_Missense_Mutation_p.I253T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I253T|SHPRH_ENST00000438092.2_Missense_Mutation_p.I253T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	253					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)		ATTACCTGGAATAATAGAATT	0.323																																						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.(757-759)aTt>aCt		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							47.0	45.0	46.0					6																	146273490		1796	4051	5847	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146273490A>G	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.758T>C	6.37:g.146273490A>G	ENSP00000356475:p.Ile253Thr					SHPRH_ENST00000367505.2_Missense_Mutation_p.I253T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I253T|SHPRH_ENST00000438092.2_Missense_Mutation_p.I253T	p.I253T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	3	1156	-		Ovarian(120;0.0365)	253					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.758T>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	10.59	1.393296	0.25118	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.75477	-0.94;-0.94;-0.93;-0.94	4.48	4.48	0.54585	.	0.150540	0.43416	D	0.000577	T	0.73560	0.3602	M	0.61703	1.905	0.51233	D	0.999913	B;B;P;D	0.63880	0.361;0.376;0.51;0.993	B;B;B;P	0.54815	0.244;0.144;0.279;0.761	T	0.76307	-0.3007	10	0.49607	T	0.09	-0.6209	13.7614	0.62968	1.0:0.0:0.0:0.0	.	142;253;253;142	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	T	253;253;253;253;142	ENSP00000356475:I253T;ENSP00000356473:I253T;ENSP00000412797:I253T;ENSP00000275233:I253T	ENSP00000275233:I253T	I	-	2	0	SHPRH	146315183	1.000000	0.71417	0.869000	0.34112	0.036000	0.12997	6.819000	0.75262	1.664000	0.50801	0.528000	0.53228	ATT		0.323	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		6	7	0	0	0	1	0	6	7				
LILRB3	11025	broad.mit.edu	37	19	54723046	54723046	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:54723046G>A	ENST00000391750.1	-	9	1514	c.1378C>T	c.(1378-1380)Ctc>Ttc	p.L460F	LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000407860.2_Missense_Mutation_p.L477F|LILRA6_ENST00000419410.2_Missense_Mutation_p.L460F|LILRA6_ENST00000270464.5_Missense_Mutation_p.L460F|LILRB3_ENST00000424807.1_Missense_Mutation_p.L460F|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.L460F|LILRB3_ENST00000346401.6_Missense_Mutation_p.L472F|LILRB3_ENST00000245620.9_Missense_Mutation_p.L460F			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	460					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		aggaggaagaggaggaggaag	0.592																																						ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.(1378-1380)Ctc>Ttc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3							207.0	143.0	165.0					19																	54723046		2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54723046G>A	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1378C>T	19.37:g.54723046G>A	ENSP00000375630:p.Leu460Phe					LILRA6_ENST00000440558.2_Missense_Mutation_p.L460F|LILRA6_ENST00000419410.2_Missense_Mutation_p.L460F|LILRB3_ENST00000424807.1_Missense_Mutation_p.L460F|LILRB3_ENST00000407860.2_Missense_Mutation_p.L477F|LILRB3_ENST00000346401.6_Missense_Mutation_p.L472F|LILRA6_ENST00000270464.5_Missense_Mutation_p.L460F|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000245620.9_Missense_Mutation_p.L460F|LILRB3_ENST00000469273.1_5'UTR	p.L460F			O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	9	1514	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		460					C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1378C>T	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576667	0.28092	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00558	6.61;6.61;6.76;6.63;6.71;6.68;6.66;6.75	2.71	-0.983	0.10263	.	1.981320	0.03459	U	0.211970	T	0.00552	0.0018	L	0.36672	1.1	0.09310	N	0.999998	B;B;B;B;B;B;B	0.27316	0.083;0.098;0.175;0.03;0.018;0.105;0.03	B;B;B;B;B;B;B	0.28638	0.037;0.092;0.052;0.03;0.012;0.016;0.02	T	0.44982	-0.9292	10	0.66056	D	0.02	.	5.0115	0.14315	0.0:0.197:0.3656:0.4374	.	477;460;460;472;477;460;460	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	F	460;460;472;460;477;460;460;460	ENSP00000375630:L460F;ENSP00000412771:L460F;ENSP00000345184:L472F;ENSP00000245620:L460F;ENSP00000384274:L477F;ENSP00000390120:L460F;ENSP00000270464:L460F;ENSP00000411227:L460F	ENSP00000270464:L460F	L	-	1	0	LILRB3;LILRA6	59414858	0.000000	0.05858	0.040000	0.18447	0.200000	0.23975	-1.036000	0.03560	-0.079000	0.12707	0.447000	0.29281	CTC		0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		4	26	0	0	0	1	0	4	26				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		4	97	1	0	0.150653	1	0.150653	4	97				
CHD2	1106	broad.mit.edu	37	15	93499774	93499774	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr15:93499774C>T	ENST00000394196.4	+	16	2963	c.1895C>T	c.(1894-1896)aCt>aTt	p.T632I	CHD2_ENST00000557381.1_Missense_Mutation_p.T632I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	632	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGTATAAAACTCTGATTGAT	0.443																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(1894-1896)aCt>aTt		chromodomain helicase DNA binding protein 2							114.0	113.0	113.0					15																	93499774		2197	4297	6494	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93499774C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1895C>T	15.37:g.93499774C>T	ENSP00000377747:p.Thr632Ile					CHD2_ENST00000557381.1_Missense_Mutation_p.T632I	p.T632I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		16	2963	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		632			Helicase ATP-binding.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.1895C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	32	5.105110	0.94245	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.92299	-3.01;-3.01	5.51	5.51	0.81932	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.35096	U	0.003458	D	0.91597	0.7345	L	0.38733	1.17	0.80722	D	1	B;P	0.45902	0.133;0.868	B;P	0.48425	0.05;0.577	D	0.92401	0.5929	10	0.72032	D	0.01	-18.5857	19.4278	0.94751	0.0:1.0:0.0:0.0	.	632;632	O14647;O14647-2	CHD2_HUMAN;.	I	632	ENSP00000377747:T632I;ENSP00000451366:T632I	ENSP00000377747:T632I	T	+	2	0	CHD2	91300778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.595000	0.87683	0.557000	0.71058	ACT		0.443	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	77	0	0	0	1	0	4	77				
ZNF468	90333	broad.mit.edu	37	19	53344032	53344032	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:53344032A>T	ENST00000595646.1	-	4	1635	c.1515T>A	c.(1513-1515)agT>agA	p.S505R	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.S452R|ZNF468_ENST00000396409.4_Missense_Mutation_p.S452R|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATGACATCTGACTGAAGGTCT	0.443																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(1513-1515)agT>agA		zinc finger protein 468							190.0	178.0	182.0					19																	53344032		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344032A>T	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1515T>A	19.37:g.53344032A>T	ENSP00000470381:p.Ser505Arg					ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.S452R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.S452R	p.S505R			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	1635	-			505					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.1515T>A	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	-	3.907	-0.020865	0.07634	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.37411	1.2;1.2	1.99	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10465	0.0256	N	0.02685	-0.53	0.09310	N	1	P	0.36144	0.539	B	0.26416	0.069	T	0.16897	-1.0387	9	0.30078	T	0.28	.	4.1855	0.10395	0.4241:0.1908:0.385:0.0	.	505	Q5VIY5	ZN468_HUMAN	R	505;452;452	ENSP00000379690:S452R;ENSP00000445669:S452R	ENSP00000243639:S505R	S	-	3	2	ZNF468	58035844	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.483000	0.02318	-1.065000	0.03168	-0.605000	0.04089	AGT		0.443	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		56	118	0	0	0	1	0	56	118				
OR4N2	390429	broad.mit.edu	37	14	20296135	20296135	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr14:20296135C>A	ENST00000315947.1	+	1	528	c.528C>A	c.(526-528)aaC>aaA	p.N176K	OR4N2_ENST00000568211.1_Missense_Mutation_p.N176K	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTGGACAACTTCTTCTGTG	0.527																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(526-528)aaC>aaA		olfactory receptor, family 4, subfamily N, member 2							136.0	141.0	140.0					14																	20296135		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296135C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.528C>A	14.37:g.20296135C>A	ENSP00000319601:p.Asn176Lys					OR4N2_ENST00000315947.1_Missense_Mutation_p.N176K	p.N176K			Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	528	+	all_cancers(95;0.00108)		176					Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.528C>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	16.01	3.001383	0.54254	.	.	ENSG00000176294	ENST00000315947	T	0.00076	8.76	4.52	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000048	T	0.00384	0.0012	M	0.81497	2.545	0.23700	N	0.997075	D	0.67145	0.996	D	0.67548	0.952	T	0.39121	-0.9629	10	0.72032	D	0.01	-13.688	6.9547	0.24563	0.0:0.7089:0.0:0.2911	.	176	Q8NGD1	OR4N2_HUMAN	K	176	ENSP00000319601:N176K	ENSP00000319601:N176K	N	+	3	2	OR4N2	19365975	0.000000	0.05858	1.000000	0.80357	0.912000	0.54170	-2.546000	0.00932	0.606000	0.29965	0.585000	0.79938	AAC		0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			50	163	1	0	3.10996e-30	1	3.53758e-30	50	163				
DNAH3	55567	broad.mit.edu	37	16	21156602	21156602	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr16:21156602C>A	ENST00000261383.3	-	3	347	c.348G>T	c.(346-348)ttG>ttT	p.L116F	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.L116F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	116	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTGGGCCATCAAGGAGTAGT	0.572																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(346-348)ttG>ttT		dynein, axonemal, heavy chain 3							163.0	117.0	132.0					16																	21156602		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21156602C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.348G>T	16.37:g.21156602C>A	ENSP00000261383:p.Leu116Phe					DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.L116F	p.L116F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	3	347	-			116			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.348G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657665	0.47467	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.23147	1.92;2.04	5.81	3.87	0.44632	.	3.113720	0.00741	N	0.001003	T	0.34600	0.0903	L	0.34521	1.04	0.29078	N	0.882868	P;D	0.56521	0.868;0.976	B;P	0.56042	0.168;0.79	T	0.11966	-1.0566	10	0.39692	T	0.17	.	5.7207	0.17985	0.0:0.6704:0.161:0.1686	.	116;87	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	F	116;116;87	ENSP00000261383:L116F;ENSP00000394245:L116F	ENSP00000261383:L116F	L	-	3	2	DNAH3	21064103	0.919000	0.31177	0.973000	0.42090	0.990000	0.78478	1.026000	0.30103	1.466000	0.48025	0.655000	0.94253	TTG		0.572	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	37	1	0	0.00024832	1	0.000259737	4	37				
DAB2IP	153090	broad.mit.edu	37	9	124535130	124535130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr9:124535130C>T	ENST00000408936.3	+	12	2505	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.Q651*|DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.Q747*			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	775	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CACAGATGGGCAGGCCGCTGC	0.741																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2323-2325)Cag>Tag		DAB2 interacting protein							8.0	10.0	10.0					9																	124535130		2147	4218	6365	SO:0001587	stop_gained	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535130C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2323C>T	9.37:g.124535130C>T	ENSP00000386183:p.Gln775*					DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.Q651*|DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.Q747*	p.Q775*			Q5VWQ8	DAB2P_HUMAN			12	2505	+			775					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Nonsense_Mutation	SNP	ENST00000408936.3	37	c.2323C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.522732	0.97633	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	.	.	.	4.69	4.69	0.59074	.	0.126706	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	16.9563	0.86260	0.0:1.0:0.0:0.0	.	.	.	.	X	747;775;684;651	.	ENSP00000259371:Q747X	Q	+	1	0	DAB2IP	123574951	1.000000	0.71417	0.984000	0.44739	0.284000	0.27059	5.078000	0.64425	2.317000	0.78254	0.462000	0.41574	CAG		0.741	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		17	15	0	0	0	1	0	17	15				
WDR33	55339	broad.mit.edu	37	2	128466386	128466386	+	Missense_Mutation	SNP	G	G	A	rs181571193		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:128466386G>A	ENST00000322313.4	-	21	3804	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1216					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAAGAGGAGCGTTCTCTGCTG	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21213	0.0		0.0	False		,,,				2504	0.0					ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3646-3648)Cgc>Tgc		WD repeat domain 33							76.0	74.0	75.0					2																	128466386		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128466386G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3646C>T	2.37:g.128466386G>A	ENSP00000325377:p.Arg1216Cys						p.R1216C	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	21	3804	-	Colorectal(110;0.1)		1216					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3646C>T	CCDS2150.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.9	5.049323	0.93740	.	.	ENSG00000136709	ENST00000322313	D	0.95918	-3.85	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96647	0.9478	10	0.62326	D	0.03	-9.0381	19.5351	0.95247	0.0:0.0:1.0:0.0	.	1216	Q9C0J8	WDR33_HUMAN	C	1216	ENSP00000325377:R1216C	ENSP00000325377:R1216C	R	-	1	0	WDR33	128182856	1.000000	0.71417	0.865000	0.33974	0.910000	0.53928	9.320000	0.96346	2.640000	0.89533	0.655000	0.94253	CGC		0.567	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		21	89	0	0	0	1	0	21	89				
NLRP12	91662	broad.mit.edu	37	19	54313428	54313428	+	Silent	SNP	G	G	C			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:54313428G>C	ENST00000324134.6	-	3	1653	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	NLRP12_ENST00000391773.1_Silent_p.L495L|NLRP12_ENST00000391775.3_Silent_p.L495L|NLRP12_ENST00000535162.1_Silent_p.L495L|NLRP12_ENST00000351894.4_Silent_p.L495L|NLRP12_ENST00000345770.5_Silent_p.L495L|NLRP12_ENST00000354278.3_Silent_p.L495L|NLRP12_ENST00000391772.1_Silent_p.L495L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	495	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTTCATGTTGAGGAAGGCAG	0.502																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1483-1485)ctC>ctG		NLR family, pyrin domain containing 12							120.0	121.0	121.0					19																	54313428		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313428G>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1485C>G	19.37:g.54313428G>C						NLRP12_ENST00000391775.3_Silent_p.L495L|NLRP12_ENST00000391772.1_Silent_p.L495L|NLRP12_ENST00000535162.1_Silent_p.L495L|NLRP12_ENST00000391773.1_Silent_p.L495L|NLRP12_ENST00000345770.5_Silent_p.L495L|NLRP12_ENST00000354278.3_Silent_p.L495L|NLRP12_ENST00000351894.4_Silent_p.L495L	p.L495L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1653	-	Ovarian(34;0.19)		495			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1485C>G	CCDS12864.1																																																																																				0.502	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		6	144	0	0	0	1	0	6	144				
SPATS1	221409	broad.mit.edu	37	6	44337830	44337830	+	Silent	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr6:44337830G>A	ENST00000288390.2	+	6	1085	c.738G>A	c.(736-738)gaG>gaA	p.E246E	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Silent_p.E246E			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	246										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCACTTGAGCCTCTTCCAC	0.343																																						ENST00000288390.2																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(736-738)gaG>gaA		spermatogenesis associated, serine-rich 1							173.0	169.0	171.0					6																	44337830		2202	4299	6501	SO:0001819	synonymous_variant	221409							g.chr6:44337830G>A	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.738G>A	6.37:g.44337830G>A						SPATS1_ENST00000323108.8_Silent_p.E246E	p.E246E			Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1085	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		246					Q496A2|Q496A5|Q96LJ0	Silent	SNP	ENST00000288390.2	37	c.738G>A	CCDS4911.1																																																																																				0.343	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		15	47	0	0	0	1	0	15	47				
ZNF831	128611	broad.mit.edu	37	20	57769568	57769568	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr20:57769568G>A	ENST00000371030.2	+	1	3494	c.3494G>A	c.(3493-3495)cGc>cAc	p.R1165H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1165							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R1165H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CACAGCACCCGCAGTCCCCAC	0.672																																						ENST00000371030.2																			1	Substitution - Missense(1)	p.R1165H(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3493-3495)cGc>cAc		zinc finger protein 831							48.0	55.0	53.0					20																	57769568		2055	4178	6233	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769568G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3494G>A	20.37:g.57769568G>A	ENSP00000360069:p.Arg1165His						p.R1165H	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3494	+	all_lung(29;0.0085)		1165					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3494G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	g	0.068	-1.209346	0.01568	.	.	ENSG00000124203	ENST00000371030	T	0.05319	3.46	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45308	-0.9270	8	0.37606	T	0.19	.	.	.	.	.	1165	Q5JPB2	ZN831_HUMAN	H	1165	ENSP00000360069:R1165H	ENSP00000360069:R1165H	R	+	2	0	ZNF831	57202963	0.001000	0.12720	0.010000	0.14722	0.007000	0.05969	-0.685000	0.05167	-2.037000	0.00920	-2.047000	0.00414	CGC		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	153	0	0	0	1	0	4	153				
ANO9	338440	broad.mit.edu	37	11	418799	418799	+	Missense_Mutation	SNP	C	C	T	rs373327405		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:418799C>T	ENST00000332826.6	-	22	2135	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	684					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGGGGGATTGCGGTAGTCCCT	0.577																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(2050-2052)cGc>cAc		anoctamin 9							89.0	96.0	94.0					11																	418799		2203	4300	6503	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:418799C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2051G>A	11.37:g.418799C>T	ENSP00000332788:p.Arg684His						p.R684H	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			22	2135	-			684					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.2051G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.962189	0.74016	.	.	ENSG00000185101	ENST00000332826	T	0.72835	-0.69	4.23	2.13	0.27403	.	1.332150	0.05583	N	0.573334	D	0.86314	0.5903	M	0.87180	2.865	0.40901	D	0.984159	D;D	0.89917	1.0;1.0	D;D	0.72075	0.959;0.976	T	0.78826	-0.2051	10	0.72032	D	0.01	.	12.2929	0.54829	0.3073:0.6927:0.0:0.0	.	385;684	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	H	684	ENSP00000332788:R684H	ENSP00000332788:R684H	R	-	2	0	ANO9	408799	0.999000	0.42202	0.095000	0.20976	0.016000	0.09150	4.676000	0.61627	0.906000	0.36621	0.478000	0.44815	CGC		0.577	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		47	133	0	0	0	1	0	47	133				
ENO3	2027	broad.mit.edu	37	17	4858480	4858480	+	Silent	SNP	C	C	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr17:4858480C>T	ENST00000323997.6	+	7	687	c.555C>T	c.(553-555)ggC>ggT	p.G185G	ENO3_ENST00000519584.1_Silent_p.G142G|ENO3_ENST00000518175.1_Silent_p.G185G	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	185					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGCGCATTGGCGCCGAGGTCT	0.577																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(553-555)ggC>ggT		enolase 3 (beta, muscle)							84.0	73.0	77.0					17																	4858480		2203	4300	6503	SO:0001819	synonymous_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4858480C>T	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.555C>T	17.37:g.4858480C>T						ENO3_ENST00000519584.1_Silent_p.G142G|ENO3_ENST00000518175.1_Silent_p.G185G	p.G185G	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			7	687	+			185					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	ENST00000323997.6	37	c.555C>T	CCDS11062.1																																																																																				0.577	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			4	103	0	0	0	1	0	4	103				
AGRN	375790	broad.mit.edu	37	1	983661	983661	+	Frame_Shift_Del	DEL	G	G	-	rs372543866	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:983661delG	ENST00000379370.2	+	23	4071	c.4021delG	c.(4021-4023)gggfs	p.G1342fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1342	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTGCTTCCACGGGGGGACCTG	0.716																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(4021-4023)ggfs		agrin							3.0	3.0	3.0					1																	983661		1780	3747	5527	SO:0001589	frameshift_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:983661delG	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4021delG	1.37:g.983661delG	ENSP00000368678:p.Gly1342fs						p.G1342fs	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	23	4071	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1342			EGF-like 1.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	c.4021delG	CCDS30551.1																																																																																				0.716	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		2	4						2	4	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		9	264						9	264	---	---	---	---
PTGS2	5743	broad.mit.edu	37	1	186646921	186646922	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr1:186646921_186646922insT	ENST00000367468.5	-	5	634_635	c.498_499insA	c.(496-501)aaattgfs	p.L167fs	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	167					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	CTTAGAAGCAATTTTTCCACAA	0.391																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(496-501)aatgctfs		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)																																			SO:0001589	frameshift_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186646921_186646922insT	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.499dupA	1.37:g.186646926_186646926dupT	ENSP00000356438:p.Leu167fs					PTGS2_ENST00000490885.2_5'UTR	p.NA166fs	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			5	634_635	-			166					A8K802|Q16876	Frame_Shift_Ins	INS	ENST00000367468.5	37	c.498_499insA	CCDS1371.1																																																																																				0.391	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		8	82						8	82	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1947087	1947087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:1947087delC	ENST00000399161.2	-	9	919	c.172delG	c.(172-174)gcgfs	p.A58fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.A58fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	58					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTTTTTCGCCAAGGGACAA	0.408																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(172-174)cgfs		myelin transcription factor 1-like							42.0	36.0	38.0					2																	1947087		1857	4101	5958	SO:0001589	frameshift_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1947087delC	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.172delG	2.37:g.1947087delC	ENSP00000382114:p.Ala58fs					MYT1L_ENST00000428368.2_Frame_Shift_Del_p.A58fs	p.A58fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	919	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	58					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Del	DEL	ENST00000399161.2	37	c.172delG																																																																																					0.408	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		2	4						2	4	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197878278	197878279	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr2:197878278_197878279delAA	ENST00000328737.2	-	18	1881_1882	c.1805_1806delTT	c.(1804-1806)tttfs	p.F602fs	ANKRD44_ENST00000450567.1_Frame_Shift_Del_p.F602fs|ANKRD44_ENST00000282272.8_Frame_Shift_Del_p.F619fs|ANKRD44_ENST00000337207.5_Frame_Shift_Del_p.F602fs			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	627										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTCTTTCACAAAGATGGATGC	0.47																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1804-1806)tfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197878278_197878279delAA	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1805_1806delTT	2.37:g.197878278_197878279delAA	ENSP00000331516:p.Phe602fs					ANKRD44_ENST00000282272.8_Frame_Shift_Del_p.F619fs|ANKRD44_ENST00000450567.1_Frame_Shift_Del_p.F602fs|ANKRD44_ENST00000337207.5_Frame_Shift_Del_p.F602fs	p.F602fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	1881_1882	-			627					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000328737.2	37	c.1805_1806delTT																																																																																					0.470	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		50	143						50	143	---	---	---	---
CLDND1	56650	broad.mit.edu	37	3	98243852	98243853	+	5'Flank	DEL	TT	TT	-	rs397713954|rs11321245|rs199832922	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr3:98243852_98243853delTT	ENST00000503004.1	-	0	0				CLDND1_ENST00000394180.2_5'Flank|CLDND1_ENST00000341181.6_5'Flank|CLDND1_ENST00000510545.1_5'Flank|CLDND1_ENST00000437922.1_5'Flank|CLDND1_ENST00000502288.1_5'Flank|CLDND1_ENST00000394185.2_5'Flank|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000508503.1_5'Flank|CLDND1_ENST00000507874.1_5'Flank|CLDND1_ENST00000513287.1_5'Flank|CLDND1_ENST00000394181.2_5'Flank|CLDND1_ENST00000511081.1_5'Flank			Q9NY35	CLDN1_HUMAN	claudin domain containing 1							apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						GAGAACAGTCTTTTTTTTTTTT	0.347														3087	0.616414	0.7428	0.6124	5008	,	,		17342	0.7004		0.4503	False		,,,				2504	0.5327					ENST00000502999.1																			0																																																	SO:0001631	upstream_gene_variant	1371							g.chr3:98243852_98243853delTT	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35			3.37:g.98243862_98243863delTT	Exception_encountered													0	264	+								B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	RNA	DEL	ENST00000503004.1	37		CCDS2930.1																																																																																				0.347	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		4	2						4	2	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153249517	153249526	+	Frame_Shift_Del	DEL	TATGTCCCAC	TATGTCCCAC	-			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:153249517_153249526delTATGTCCCAC	ENST00000281708.4	-	9	2481_2490	c.1252_1261delGTGGGACATA	c.(1252-1263)gtgggacatacafs	p.VGHT418fs	FBXW7_ENST00000393956.3_Frame_Shift_Del_p.VGHT242fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.VGHT418fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.VGHT338fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.VGHT300fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.VGHT418fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	418					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.H420Y(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTCCACCTGTATGTCCCACTAATGTTCTC	0.357			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		2	Substitution - Missense(1)|Unknown(1)	p.H420Y(1)|p.?(1)	haematopoietic_and_lymphoid_tissue(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1252-1263)cafs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249517_153249526delTATGTCCCAC	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1252_1261delGTGGGACATA	4.37:g.153249517_153249526delTATGTCCCAC	ENSP00000281708:p.Val418fs					FBXW7_ENST00000296555.5_Frame_Shift_Del_p.VGHT300fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.VGHT418fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.VGHT418fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.VGHT338fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.VGHT242fs	p.VGHT418fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2481_2490	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	418					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	ENST00000281708.4	37	c.1252_1261delGTGGGACATA	CCDS3777.1																																																																																				0.357	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			73	55						73	55	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187630162	187630163	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr4:187630162_187630163insA	ENST00000441802.2	-	2	1028_1029	c.819_820insT	c.(817-822)tatgcafs	p.A274fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	274					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCACAATTGCATATGCTGGGT	0.505										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(817-822)tacaatfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630162_187630163insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.820dupT	4.37:g.187630163_187630163dupA	ENSP00000406229:p.Ala274fs	HNSCC(5;0.00058)					p.N274fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1028_1029	-			274						Frame_Shift_Ins	INS	ENST00000441802.2	37	c.819_820insT	CCDS47177.1																																																																																				0.505	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		200	129						200	129	---	---	---	---
CEP164P1	100289237	broad.mit.edu	37	10	45551207	45551207	+	RNA	DEL	T	T	-			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr10:45551207delT	ENST00000456938.2	-	0	411									centrosomal protein 164kDa pseudogene 1																		ATACCTTCAATCAAAAACCTT	0.358																																						ENST00000456938.2																			0																																																			100289237							g.chr10:45551207delT			10q11.21	2013-05-22			ENSG00000226937	ENSG00000226937			44988	pseudogene	pseudogene							Standard	NG_032712		Approved				OTTHUMG00000018069		10.37:g.45551207delT														0	411	-									RNA	DEL	ENST00000456938.2	37																																																																																						0.358	CEP164P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047765.2	NG_032712		2	4						2	4	---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66483306	66483306	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr11:66483306delT	ENST00000533211.1	-	4	635	c.304delA	c.(304-306)atafs	p.I102fs	SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.I102fs|SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.I102fs|RN7SL12P_ENST00000473849.2_RNA			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	102	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCACCAGTATCTCTCCCGAG	0.637																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(304-306)tafs		spectrin, beta, non-erythrocytic 2							50.0	48.0	49.0					11																	66483306		2200	4295	6495	SO:0001589	frameshift_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66483306delT	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.304delA	11.37:g.66483306delT	ENSP00000432568:p.Ile102fs					SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.I102fs|SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.I102fs	p.I102fs			O15020	SPTN2_HUMAN			4	635	-			102			Actin-binding.|CH 1.		O14872|O14873	Frame_Shift_Del	DEL	ENST00000533211.1	37	c.304delA	CCDS8150.1																																																																																				0.637	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		8	38						8	38	---	---	---	---
PLEKHG6	55200	broad.mit.edu	37	12	6436582	6436583	+	In_Frame_Ins	INS	-	-	GCC	rs377069397	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:6436582_6436583insGCC	ENST00000396988.3	+	15	2063_2064	c.1833_1834insGCC	c.(1834-1836)gcc>GCCgcc	p.612_612A>AA	PLEKHG6_ENST00000304581.8_In_Frame_Ins_p.142_142A>AA|PLEKHG6_ENST00000011684.7_In_Frame_Ins_p.612_612A>AA|PLEKHG6_ENST00000449001.2_In_Frame_Ins_p.580_580A>AA	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	612						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TACGCCAAAGAGCCCTTCGGCG	0.658																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1735-1740)agccct>agGCCccct		pleckstrin homology domain containing, family G (with RhoGef domain) member 6																																				SO:0001652	inframe_insertion	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436582_6436583insGCC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1834_1836dupGCC	12.37:g.6436583_6436585dupGCC	ENSP00000380185:p.Ala612dup					PLEKHG6_ENST00000396988.3_In_Frame_Ins_p.611_611S>RP|PLEKHG6_ENST00000011684.7_In_Frame_Ins_p.611_611S>RP|PLEKHG6_ENST00000304581.8_In_Frame_Ins_p.141_141S>RP	p.579_579S>RP	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			14	2231_2232	+			611					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	In_Frame_Ins	INS	ENST00000396988.3	37	c.1737_1738insGCC	CCDS8541.1																																																																																				0.658	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		79	178						79	178	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445506	49445521	+	Frame_Shift_Del	DEL	ATAGGCGCGATACCTC	ATAGGCGCGATACCTC	-	rs369789129		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr12:49445506_49445521delATAGGCGCGATACCTC	ENST00000301067.7	-	10	1944_1959	c.1945_1960delGAGGTATCGCGCCTAT	c.(1945-1962)gaggtatcgcgcctatccfs	p.EVSRLS649fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	649	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCAGGGGGGATAGGCGCGATACCTCAGGTGGGGGG	0.639																																						ENST00000301067.7																			0											c.(1945-1962)ccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49445506_49445521delATAGGCGCGATACCTC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1945_1960delGAGGTATCGCGCCTAT	12.37:g.49445506_49445521delATAGGCGCGATACCTC	ENSP00000301067:p.Glu649fs						p.EVSRLS649fs	NM_003482.3	NP_003473.3					10	1944_1959	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.1945_1960delGAGGTATCGCGCCTAT	CCDS44873.1																																																																																				0.639	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	72						11	72	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47809071	47809071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr18:47809071delA	ENST00000285106.6	-	15	2577	c.1863delT	c.(1861-1863)aatfs	p.N621fs	MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000587605.1_5'Flank|CXXC1_ENST00000412036.2_Frame_Shift_Del_p.N625fs|MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|CXXC1_ENST00000589940.1_Frame_Shift_Del_p.M609fs|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000590208.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	621					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTGTGCGCACATTGCGCTCCT	0.647																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1861-1863)aafs		CXXC finger protein 1							136.0	111.0	120.0					18																	47809071		2203	4300	6503	SO:0001589	frameshift_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47809071delA	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1863delT	18.37:g.47809071delA	ENSP00000285106:p.Asn621fs					CXXC1_ENST00000412036.2_Frame_Shift_Del_p.N625fs|CXXC1_ENST00000589940.1_Frame_Shift_Del_p.M609fs	p.N621fs	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			15	2577	-			621					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Frame_Shift_Del	DEL	ENST00000285106.6	37	c.1863delT	CCDS11945.1																																																																																				0.647	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		30	63						30	63	---	---	---	---
KIAA1683	80726	broad.mit.edu	37	19	18368905	18368909	+	Frame_Shift_Del	DEL	GTCCG	GTCCG	-	rs61746499|rs61740684	byFrequency	TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:18368905_18368909delGTCCG	ENST00000600328.3	-	4	2817_2821	c.2624_2628delCGGAC	c.(2623-2628)gcggacfs	p.AD875fs	PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000600359.3_Frame_Shift_Del_p.AD829fs|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Frame_Shift_Del_p.AD1062fs			Q9H0B3	K1683_HUMAN	KIAA1683	875						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCACACCAGCGTCCGCGGGGCCCTG	0.639																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3184-3189)gfs		KIAA1683																																				SO:0001589	frameshift_variant	80726					mitochondrion		g.chr19:18368905_18368909delGTCCG	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2624_2628delCGGAC	19.37:g.18368905_18368909delGTCCG	ENSP00000470780:p.Ala875fs					KIAA1683_ENST00000600328.2_Frame_Shift_Del_p.AD875fs|KIAA1683_ENST00000600359.2_Frame_Shift_Del_p.AD829fs	p.AD1062fs	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3400_3404	-			1076					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Frame_Shift_Del	DEL	ENST00000600328.3	37	c.3185_3189delCGGAC	CCDS32958.1																																																																																				0.639	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			17	81						17	81	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45015427	45015427	+	RNA	DEL	T	T	-			TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:45015427delT	ENST00000454753.1	-	0	1891							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CCCAGCCTCCTTTTCACCCCA	0.552																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20																																						125931					integral to membrane		g.chr19:45015427delT	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015427delT										Q6UY09	CEA20_HUMAN			0	1891	-		Prostate(69;0.0352)							RNA	DEL	ENST00000454753.1	37																																																																																						0.552	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		2	4						2	4	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-F7-A622-01A-11D-A28R-08	TCGA-F7-A622-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1188c0e9-1f41-4b7e-8bfb-b6ad5a724466	46f9d879-7a87-4b25-adcb-bc10db818781	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000424032.2_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000424032.2_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		5	10						5	10	---	---	---	---
