#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
SLC35G3	146861	broad.mit.edu	37	17	33521307	33521307	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr17:33521307T>C	ENST00000297307.5	-	1	105	c.20A>G	c.(19-21)tAt>tGt	p.Y7C	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	7						integral component of membrane (GO:0016021)											CTGGTTGAAATAGGGGTGACT	0.632																																						ENST00000297307.5																			0											c.(19-21)tAt>tGt		solute carrier family 35, member G3							84.0	80.0	81.0					17																	33521307		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33521307T>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.20A>G	17.37:g.33521307T>C	ENSP00000297307:p.Tyr7Cys						p.Y7C	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	105	-			7					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.20A>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	8.088	0.773909	0.16051	.	.	ENSG00000164729	ENST00000297307	T	0.35605	1.3	.	.	.	.	0.181691	0.26780	N	0.022523	T	0.37705	0.1013	N	0.24115	0.695	0.20975	N	0.999819	D	0.76494	0.999	D	0.80764	0.994	T	0.14227	-1.0480	8	0.52906	T	0.07	-6.2298	.	.	.	.	7	Q8N808	S35G3_HUMAN	C	7	ENSP00000297307:Y7C	ENSP00000297307:Y7C	Y	-	2	0	SLC35G3	30545420	0.233000	0.23772	0.360000	0.25837	0.366000	0.29705	0.077000	0.14738	0.056000	0.16144	0.055000	0.15244	TAT		0.632	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		3	45	0	0	0	1	0	3	45				
FAM83F	113828	broad.mit.edu	37	22	40417409	40417409	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr22:40417409G>A	ENST00000333407.6	+	4	989	c.895G>A	c.(895-897)Gac>Aac	p.D299N	FAM83F_ENST00000473717.1_Missense_Mutation_p.D131N	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	299										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CGAGGAGGTGGACTTGTACCG	0.592																																						ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(895-897)Gac>Aac		family with sequence similarity 83, member F							109.0	112.0	111.0					22																	40417409		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417409G>A		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.895G>A	22.37:g.40417409G>A	ENSP00000330432:p.Asp299Asn					FAM83F_ENST00000473717.1_3'UTR	p.D299N	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	989	+			299					Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.895G>A	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	G	4.159	0.027914	0.08054	.	.	ENSG00000133477	ENST00000333407	T	0.14144	2.53	4.79	1.22	0.21188	.	0.216541	0.47093	N	0.000260	T	0.03959	0.0111	N	0.01874	-0.695	0.26090	N	0.980963	B	0.12013	0.005	B	0.12156	0.007	T	0.44832	-0.9302	10	0.09084	T	0.74	-14.1409	8.8252	0.35050	0.7251:0.0:0.2749:0.0	.	299	Q8NEG4	FA83F_HUMAN	N	299	ENSP00000330432:D299N	ENSP00000330432:D299N	D	+	1	0	FAM83F	38747355	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	0.823000	0.27366	0.039000	0.15632	0.561000	0.74099	GAC		0.592	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		13	116	0	0	0	1	0	13	116				
MUC5B	727897	broad.mit.edu	37	11	1267146	1267146	+	Silent	SNP	G	G	A	rs563936822	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:1267146G>A	ENST00000529681.1	+	31	9094	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3015P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642													G|||	4	0.000798722	0.0	0.0	5008	,	,		16823	0.0		0.003	False		,,,				2504	0.001					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9043-9045)ccG>ccA		mucin 5B, oligomeric mucus/gel-forming							139.0	168.0	158.0					11																	1267146		2150	4233	6383	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267146G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9036G>A	11.37:g.1267146G>A						MUC5B_ENST00000529681.1_Silent_p.P3012P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3015P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9103	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3012	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9045G>A	CCDS44515.2																																																																																				0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		31	82	0	0	0	1	0	31	82				
MFSD6	54842	broad.mit.edu	37	2	191301245	191301245	+	Missense_Mutation	SNP	C	C	T	rs116097269	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr2:191301245C>T	ENST00000392328.1	+	3	814	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	MFSD6_ENST00000281416.7_Missense_Mutation_p.R164C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	164					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACCAAAGATTCGCCCAACAAC	0.428													C|||	6	0.00119808	0.0	0.0	5008	,	,		20101	0.0		0.006	False		,,,				2504	0.0					ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(490-492)Cgc>Tgc		major facilitator superfamily domain containing 6		C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	98.0	104.0	102.0		490	1.4	0.5	2	dbSNP_132	102	68,8532	41.2+/-98.3	0,68,4232	yes	missense	MFSD6	NM_017694.3	180	0,74,6429	TT,TC,CC		0.7907,0.1362,0.569	benign	164/792	191301245	74,12932	2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191301245C>T		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.490C>T	2.37:g.191301245C>T	ENSP00000376141:p.Arg164Cys					MFSD6_ENST00000281416.7_Missense_Mutation_p.R164C	p.R164C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			3	814	+			164					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.490C>T	CCDS2306.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	10.75	1.438624	0.25900	0.001362	0.007907	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.32515	1.45;1.45	5.39	1.38	0.22167	Major facilitator superfamily domain, general substrate transporter (1);	0.705996	0.14259	N	0.330922	T	0.09069	0.0224	N	0.08118	0	0.30251	N	0.794035	B	0.25772	0.134	B	0.09377	0.004	T	0.14476	-1.0471	10	0.37606	T	0.19	-4.0731	5.6769	0.17753	0.129:0.5235:0.2748:0.0728	.	164	Q6ZSS7	MFSD6_HUMAN	C	164	ENSP00000376141:R164C;ENSP00000281416:R164C	ENSP00000281416:R164C	R	+	1	0	MFSD6	191009490	0.001000	0.12720	0.453000	0.27007	0.877000	0.50540	0.924000	0.28777	0.064000	0.16427	0.650000	0.86243	CGC		0.428	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			4	78	0	0	0	1	0	4	78				
TSNAX	7257	broad.mit.edu	37	1	231696959	231696959	+	Silent	SNP	A	A	G			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:231696959A>G	ENST00000366639.4	+	5	611	c.453A>G	c.(451-453)caA>caG	p.Q151Q	TSNAX-DISC1_ENST00000602962.1_Silent_p.Q151Q	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	151	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TTAATAAACAATTGATATTTA	0.289																																						ENST00000602962.1																			0											c.(451-453)caA>caG									48.0	55.0	52.0					1																	231696959		2199	4291	6490	SO:0001819	synonymous_variant	0							g.chr1:231696959A>G	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.453A>G	1.37:g.231696959A>G						TSNAX_ENST00000366639.4_Silent_p.Q151Q	p.Q151Q							5	611	+								B1APC6	Silent	SNP	ENST00000366639.4	37	c.453A>G	CCDS1596.1																																																																																				0.289	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999		13	30	0	0	0	1	0	13	30				
HELLS	3070	broad.mit.edu	37	10	96361328	96361328	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr10:96361328A>G	ENST00000348459.5	+	22	2571	c.2466A>G	c.(2464-2466)atA>atG	p.I822M	HELLS_ENST00000371332.4_Missense_Mutation_p.I868M|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.I724M	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AGATGGGGATATTCAAGATAT	0.303																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(2464-2466)atA>atG		helicase, lymphoid-specific							70.0	76.0	74.0					10																	96361328		2203	4297	6500	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96361328A>G	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2466A>G	10.37:g.96361328A>G	ENSP00000239027:p.Ile822Met					HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.I868M|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.I724M	p.I822M	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	22	2571	+		Colorectal(252;0.0429)	822						Missense_Mutation	SNP	ENST00000348459.5	37	c.2466A>G	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402439	0.42613	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.89939	-2.44;-2.07;-2.59;-1.72	5.85	3.49	0.39957	.	0.176741	0.47852	D	0.000207	T	0.79488	0.4454	N	0.03608	-0.345	0.80722	D	1	P;B;D;B;P	0.64830	0.807;0.057;0.994;0.067;0.901	B;B;P;B;B	0.53861	0.358;0.024;0.736;0.203;0.277	T	0.75952	-0.3136	10	0.41790	T	0.15	-12.3166	4.5068	0.11893	0.4997:0.1058:0.0:0.3945	.	806;793;692;724;822	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	M	822;724;868;259	ENSP00000239027:I822M;ENSP00000377609:I724M;ENSP00000360383:I868M;ENSP00000360378:I259M	ENSP00000239027:I822M	I	+	3	3	HELLS	96351318	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.346000	0.33964	0.455000	0.26910	0.460000	0.39030	ATA		0.303	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		9	50	0	0	0	1	0	9	50				
RIMS3	9783	broad.mit.edu	37	1	41098767	41098767	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:41098767C>T	ENST00000372684.3	-	5	915	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	RIMS3_ENST00000372683.1_Missense_Mutation_p.R149Q	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	149					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)			CAGTGTCTGTCGCCCCACAAT	0.592																																						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.(445-447)cGa>cAa		regulating synaptic membrane exocytosis 3							157.0	141.0	146.0					1																	41098767		2203	4300	6503	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41098767C>T	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.446G>A	1.37:g.41098767C>T	ENSP00000361769:p.Arg149Gln					RIMS3_ENST00000372683.1_Missense_Mutation_p.R149Q	p.R149Q	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		5	915	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	149					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.446G>A	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440590	0.96168	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.42900	0.96;0.96	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.72010	-0.4419	10	0.59425	D	0.04	-5.2759	16.0031	0.80310	0.0:1.0:0.0:0.0	.	149	Q9UJD0	RIMS3_HUMAN	Q	149	ENSP00000361769:R149Q;ENSP00000361768:R149Q	ENSP00000361768:R149Q	R	-	2	0	RIMS3	40871354	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.770000	0.85390	2.379000	0.81126	0.305000	0.20034	CGA		0.592	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		76	69	0	0	0	1	0	76	69				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	94	0	0	0	1	0	4	94				
ANKEF1	63926	broad.mit.edu	37	20	10023795	10023795	+	Silent	SNP	G	G	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr20:10023795G>A	ENST00000378380.3	+	3	701	c.372G>A	c.(370-372)ccG>ccA	p.P124P	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.P124P|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	124							calcium ion binding (GO:0005509)										GCATTTTACCGACTAAGCGGC	0.378																																						ENST00000378380.3																			0											c.(370-372)ccG>ccA		ankyrin repeat and EF-hand domain containing 1							140.0	133.0	135.0					20																	10023795		2203	4300	6503	SO:0001819	synonymous_variant	63926							g.chr20:10023795G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.372G>A	20.37:g.10023795G>A						ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.P124P|SNAP25-AS1_ENST00000421143.2_RNA	p.P124P	NM_198798.1	NP_942093.1					3	701	+								B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.372G>A	CCDS13108.1																																																																																				0.378	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		23	44	0	0	0	1	0	23	44				
DFNB31	25861	broad.mit.edu	37	9	117185766	117185766	+	Missense_Mutation	SNP	G	G	A	rs79572315	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr9:117185766G>A	ENST00000362057.3	-	7	1622	c.1454C>T	c.(1453-1455)cCg>cTg	p.P485L	DFNB31_ENST00000374059.3_Missense_Mutation_p.P134L|DFNB31_ENST00000265134.6_Missense_Mutation_p.P102L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	485					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGGTCTTGCGGGGAAATGGT	0.637													G|||	10	0.00199681	0.0015	0.0014	5008	,	,		21137	0.0		0.007	False		,,,				2504	0.0					ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1453-1455)cCg>cTg		deafness, autosomal recessive 31		G	LEU/PRO,LEU/PRO,LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	71.0	69.0	70.0		305,1454,1454	4.4	0.9	9	dbSNP_131	70	32,8568	22.2+/-67.0	0,32,4268	yes	missense,missense,missense	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	98,98,98	0,36,6467	AA,AG,GG		0.3721,0.0908,0.2768	probably-damaging,probably-damaging,probably-damaging	102/525,485/907,485/908	117185766	36,12970	2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117185766G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1454C>T	9.37:g.117185766G>A	ENSP00000354623:p.Pro485Leu					DFNB31_ENST00000265134.6_Missense_Mutation_p.P102L|DFNB31_ENST00000374059.3_Missense_Mutation_p.P134L	p.P485L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			7	1622	-			485					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1454C>T	CCDS6806.1	7	0.003205128205128205	0	0.0	0	0.0	0	0.0	7	0.009234828496042216	G	28.4	4.916120	0.92178	9.08E-4	0.003721	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.10763	3.73;3.71;2.84	5.3	4.41	0.53225	.	0.058329	0.64402	N	0.000001	T	0.23806	0.0576	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.74023	0.982;0.94;0.974	T	0.01715	-1.1289	10	0.41790	T	0.15	-31.7478	13.7595	0.62956	0.0739:0.0:0.9261:0.0	.	485;485;134	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	L	102;134;485	ENSP00000265134:P102L;ENSP00000363172:P134L;ENSP00000354623:P485L	ENSP00000265134:P102L	P	-	2	0	DFNB31	116225587	1.000000	0.71417	0.945000	0.38365	0.994000	0.84299	8.960000	0.93117	1.247000	0.43917	0.555000	0.69702	CCG		0.637	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		4	74	0	0	0	1	0	4	74				
PCID2	55795	broad.mit.edu	37	13	113854783	113854783	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr13:113854783C>A	ENST00000337344.4	-	2	160	c.84G>T	c.(82-84)ttG>ttT	p.L28F	PCID2_ENST00000246505.5_Missense_Mutation_p.L28F|PCID2_ENST00000375479.2_Missense_Mutation_p.L28F|PCID2_ENST00000375457.2_Missense_Mutation_p.L26F|PCID2_ENST00000375459.1_Missense_Mutation_p.L26F|PCID2_ENST00000375477.1_Missense_Mutation_p.L28F	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	28					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TAAAAGACACCAACTCTGCAC	0.423																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(76-78)ttG>ttT		PCI domain containing 2							127.0	127.0	127.0					13																	113854783		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113854783C>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.84G>T	13.37:g.113854783C>A	ENSP00000337405:p.Leu28Phe					PCID2_ENST00000246505.5_Missense_Mutation_p.L28F|PCID2_ENST00000351317.3_Missense_Mutation_p.L28F|PCID2_ENST00000375477.1_Missense_Mutation_p.L28F|PCID2_ENST00000375459.1_Missense_Mutation_p.L26F|PCID2_ENST00000375479.2_Missense_Mutation_p.L28F|PCID2_ENST00000337344.4_Missense_Mutation_p.L28F	p.L26F	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		2	674	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	28					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.78G>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256411	0.39896	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.45	4.6	0.57074	.	0.156062	0.43747	D	0.000534	T	0.49779	0.1577	L	0.42581	1.335	0.51767	D	0.999937	B;B	0.26400	0.148;0.003	B;B	0.36335	0.222;0.01	T	0.35724	-0.9777	9	0.14656	T	0.56	-4.0257	9.5043	0.39037	0.0:0.7809:0.1443:0.0748	.	28;28	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	F	28;28;28;28;26;26;28;26;28	.	ENSP00000246505:L28F	L	-	3	2	PCID2	112902784	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	1.150000	0.31639	1.280000	0.44463	0.655000	0.94253	TTG		0.423	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		5	63	1	0	0.00198382	1	0.00198382	5	63				
NEB	4703	broad.mit.edu	37	2	152390825	152390825	+	Silent	SNP	G	G	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr2:152390825G>A	ENST00000172853.10	-	115	16365	c.16218C>T	c.(16216-16218)taC>taT	p.Y5406Y	NEB_ENST00000409198.1_Silent_p.Y5406Y|NEB_ENST00000397345.3_Intron|NEB_ENST00000604864.1_Silent_p.Y7107Y|NEB_ENST00000603639.1_Intron|NEB_ENST00000427231.2_Silent_p.Y7107Y			P20929	NEBU_HUMAN	nebulin	5406					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATCAGCTCTGTATTTTTTCT	0.443																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(21319-21321)taC>taT		nebulin							202.0	195.0	197.0					2																	152390825		1896	4132	6028	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152390825G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16218C>T	2.37:g.152390825G>A						NEB_ENST00000409198.1_Silent_p.Y5406Y|NEB_ENST00000604864.1_Silent_p.Y7107Y|NEB_ENST00000397345.3_Intron|NEB_ENST00000172853.10_Silent_p.Y5406Y|NEB_ENST00000603639.1_Intron	p.Y7107Y	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	143	21523	-			5406					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.21321C>T																																																																																					0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	72	0	0	0	1	0	5	72				
KCNJ14	3770	broad.mit.edu	37	19	48967816	48967816	+	Missense_Mutation	SNP	G	G	A	rs144271715		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr19:48967816G>A	ENST00000391884.1	+	2	1569	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	CTC-273B12.5_ENST00000593476.1_RNA|CTC-273B12.5_ENST00000600650.1_RNA|CTC-273B12.5_ENST00000600529.1_RNA|CTC-273B12.7_ENST00000595676.1_5'Flank|CTC-273B12.6_ENST00000597574.1_lincRNA|CTC-273B12.5_ENST00000596497.1_RNA|KCNJ14_ENST00000342291.2_Missense_Mutation_p.E365K			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	365					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CAGTGCTAAGGAGCTGGATGA	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21567	0.0		0.0	False		,,,				2504	0.0				NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(1093-1095)Gag>Aag		potassium inwardly-rectifying channel, subfamily J, member 14		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	65.0	63.0	64.0		1093,1093	5.2	1.0	19	dbSNP_134	64	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	KCNJ14	NM_013348.2,NM_170720.1	56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	365/437,365/437	48967816	3,13003	2203	4300	6503	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48967816G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.1093G>A	19.37:g.48967816G>A	ENSP00000375756:p.Glu365Lys					KCNJ14_ENST00000342291.2_Missense_Mutation_p.E365K	p.E365K			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	2	1569	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	365						Missense_Mutation	SNP	ENST00000391884.1	37	c.1093G>A	CCDS12721.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	34	5.372467	0.95923	0.0	3.49E-4	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94184	-3.37;-3.37	5.24	5.24	0.73138	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.135490	0.52532	D	0.000075	D	0.94732	0.8300	M	0.74546	2.27	0.58432	D	0.999993	P	0.47677	0.899	P	0.49637	0.617	D	0.94894	0.8050	10	0.62326	D	0.03	.	17.1398	0.86749	0.0:0.0:1.0:0.0	.	365	Q9UNX9	IRK14_HUMAN	K	365	ENSP00000341479:E365K;ENSP00000375756:E365K	ENSP00000341479:E365K	E	+	1	0	KCNJ14	53659628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	GAG		0.547	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		3	41	0	0	0	1	0	3	41				
CCDC155	147872	broad.mit.edu	37	19	49920492	49920492	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr19:49920492G>A	ENST00000447857.3	+	19	1721	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	506						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GAGGGCCTGGGGCCAGCTCTG	0.652																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1516-1518)Ggc>Agc		coiled-coil domain containing 155							23.0	27.0	26.0					19																	49920492		1920	4112	6032	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49920492G>A		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1516G>A	19.37:g.49920492G>A	ENSP00000404220:p.Gly506Ser						p.G506S	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			19	1721	+			506					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.1516G>A	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	g	10.57	1.386550	0.25031	.	.	ENSG00000161609	ENST00000447857	T	0.29397	1.57	3.89	1.03	0.20045	.	0.679950	0.12798	N	0.438267	T	0.19765	0.0475	L	0.36672	1.1	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.08055	0.003;0.003	T	0.21211	-1.0252	10	0.31617	T	0.26	-6.5932	4.5176	0.11943	0.1808:0.2054:0.6138:0.0	.	506;506	C9JGW3;Q8N6L0	.;CC155_HUMAN	S	506	ENSP00000404220:G506S	ENSP00000404220:G506S	G	+	1	0	CCDC155	54612304	0.110000	0.22057	0.071000	0.20095	0.795000	0.44927	0.055000	0.14229	0.160000	0.19432	0.450000	0.29827	GGC		0.652	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		7	15	0	0	0	1	0	7	15				
SLC25A45	283130	broad.mit.edu	37	11	65144072	65144072	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:65144072T>C	ENST00000527174.1	-	6	728	c.673A>G	c.(673-675)Atc>Gtc	p.I225V	SLC25A45_ENST00000360662.3_Missense_Mutation_p.I201V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.I183V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.I201V|SLC25A45_ENST00000417511.2_Missense_Mutation_p.I183V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.I225V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.I163V|RP11-867O8.5_ENST00000533886.1_RNA|SLC25A45_ENST00000377152.2_Missense_Mutation_p.I121V			Q8N413	S2545_HUMAN	solute carrier family 25, member 45	225					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CGGGACTTGATCATGTCTAAG	0.617																																						ENST00000417511.2																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						c.(547-549)Atc>Gtc		solute carrier family 25, member 45							83.0	87.0	86.0					11																	65144072		2149	4252	6401	SO:0001583	missense	283130				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr11:65144072T>C	BC041100	CCDS41670.1, CCDS41671.1, CCDS60850.1	11q13.1	2013-05-22			ENSG00000162241	ENSG00000162241		"""Solute carriers"""	27442	protein-coding gene	gene with protein product		610825				16949250	Standard	XM_006718507		Approved		uc001odr.1	Q8N413	OTTHUMG00000166255	ENST00000527174.1:c.673A>G	11.37:g.65144072T>C	ENSP00000435489:p.Ile225Val					SLC25A45_ENST00000527174.1_Missense_Mutation_p.I225V|SLC25A45_ENST00000526432.1_Missense_Mutation_p.I163V|SLC25A45_ENST00000360662.3_Missense_Mutation_p.I201V|SLC25A45_ENST00000294187.6_Missense_Mutation_p.I183V|SLC25A45_ENST00000377152.2_Missense_Mutation_p.I121V|SLC25A45_ENST00000398802.1_Missense_Mutation_p.I225V|SLC25A45_ENST00000534028.1_Missense_Mutation_p.I201V	p.I183V	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN			10	1681	-			225					Q6PL49|Q8IW29	Missense_Mutation	SNP	ENST00000527174.1	37	c.547A>G	CCDS41670.1	.	.	.	.	.	.	.	.	.	.	T	6.287	0.421074	0.11928	.	.	ENSG00000162241	ENST00000527174;ENST00000534028;ENST00000398802;ENST00000360662;ENST00000377152;ENST00000294187;ENST00000417511;ENST00000526432	T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.74	-0.201	0.13212	Mitochondrial carrier domain (2);	.	.	.	.	T	0.43122	0.1233	N	0.04203	-0.255	0.34764	D	0.733075	B;B;B	0.19935	0.007;0.007;0.04	B;B;B	0.26969	0.012;0.045;0.075	T	0.47586	-0.9106	9	0.02654	T	1	-0.0064	4.9452	0.13985	0.0:0.2641:0.1529:0.583	.	163;201;225	E9PJQ3;Q8N413-4;Q8N413	.;.;S2545_HUMAN	V	225;201;225;201;121;183;183;163	ENSP00000435489:I225V;ENSP00000431769:I201V;ENSP00000381782:I225V;ENSP00000353879:I201V;ENSP00000366357:I121V;ENSP00000294187:I183V;ENSP00000407530:I183V;ENSP00000435547:I163V	ENSP00000294187:I183V	I	-	1	0	SLC25A45	64900648	0.323000	0.24643	1.000000	0.80357	0.909000	0.53808	-0.298000	0.08265	0.070000	0.16634	0.459000	0.35465	ATC		0.617	SLC25A45-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388744.3	NM_182556		29	33	0	0	0	1	0	29	33				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						ENST00000393409.2																			4	Substitution - coding silent(4)	p.G13G(4)	lung(2)|kidney(2)	breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(106-108)ggT>ggG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G						PLXNA1_ENST00000251772.4_Silent_p.G13G	p.G36G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	108	+			36			Sema.			Silent	SNP	ENST00000393409.2	37	c.108T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		7	21	0	0	0	1	0	7	21				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	68	1	0	0.00024832	1	0.000256883	4	68				
PIH1D2	120379	broad.mit.edu	37	11	111942472	111942472	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr11:111942472T>C	ENST00000280350.4	-	3	410	c.188A>G	c.(187-189)gAa>gGa	p.E63G	PIH1D2_ENST00000521853.2_5'UTR|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000532211.1_Missense_Mutation_p.E63G|C11orf57_ENST00000530104.1_5'Flank|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000532163.1_5'Flank|C11orf57_ENST00000280352.9_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000431456.1_Missense_Mutation_p.E63G	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	63										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AAGTATTTTTTCTTTTGGTTT	0.428																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(187-189)gAa>gGa		PIH1 domain containing 2							85.0	88.0	87.0					11																	111942472		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111942472T>C	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.188A>G	11.37:g.111942472T>C	ENSP00000280350:p.Glu63Gly					PIH1D2_ENST00000528775.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000431456.1_Missense_Mutation_p.E63G|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000280350.4_Missense_Mutation_p.E63G|PIH1D2_ENST00000532211.1_Missense_Mutation_p.E63G	p.E63G			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	3	513	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	63					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.188A>G	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045342	0.55110	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744	T;T;T;T;T;T	0.50277	0.77;0.77;0.81;0.81;0.78;0.75	4.97	3.84	0.44239	.	0.475662	0.24838	N	0.035185	T	0.46580	0.1400	M	0.63428	1.95	0.40187	D	0.977362	P;P;B	0.50528	0.936;0.936;0.075	P;P;B	0.50860	0.516;0.652;0.055	T	0.49093	-0.8975	10	0.09590	T	0.72	-16.2345	6.1949	0.20544	0.0:0.1921:0.0:0.8079	.	63;63;63	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	G	63;63;63;63;63;28	ENSP00000434275:E63G;ENSP00000388209:E63G;ENSP00000431841:E63G;ENSP00000280350:E63G;ENSP00000431147:E63G;ENSP00000433297:E28G	ENSP00000280350:E63G	E	-	2	0	PIH1D2	111447682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.904000	0.39868	0.931000	0.37242	0.459000	0.35465	GAA		0.428	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		10	23	0	0	0	1	0	10	23				
RTP1	132112	broad.mit.edu	37	3	186917353	186917353	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr3:186917353G>T	ENST00000312295.4	+	2	317	c.287G>T	c.(286-288)tGg>tTg	p.W96L	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	96					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CACTGCTCCTGGTGCTGGCAC	0.652																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(286-288)tGg>tTg		receptor (chemosensory) transporter protein 1							75.0	64.0	68.0					3																	186917353		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917353G>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.287G>T	3.37:g.186917353G>T	ENSP00000311712:p.Trp96Leu					RP11-208N14.4_ENST00000356133.3_RNA	p.W96L	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	317	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		96						Missense_Mutation	SNP	ENST00000312295.4	37	c.287G>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010435	0.54361	.	.	ENSG00000175077	ENST00000312295	T	0.20332	2.08	5.7	5.7	0.88788	.	0.581138	0.18938	N	0.127035	T	0.14399	0.0348	N	0.15975	0.35	0.32887	D	0.511321	B	0.26147	0.143	B	0.30316	0.114	T	0.14615	-1.0466	10	0.15066	T	0.55	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	96	P59025	RTP1_HUMAN	L	96	ENSP00000311712:W96L	ENSP00000311712:W96L	W	+	2	0	RTP1	188400047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.193000	0.42658	2.711000	0.92665	0.561000	0.74099	TGG		0.652	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		53	50	1	0	4.88482e-21	1	5.63634e-21	53	50				
AXIN1	8312	broad.mit.edu	37	16	354424	354424	+	Silent	SNP	C	C	T	rs201968411		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr16:354424C>T	ENST00000262320.3	-	5	1505	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P	AXIN1_ENST00000354866.3_Silent_p.P378P|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	378	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGACCTCCTTCGGCACCCGGT	0.627																																						ENST00000262320.3																			1	Unknown(1)	p.?(1)	liver(1)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1132-1134)ccG>ccA		axin 1							29.0	28.0	28.0					16																	354424		2202	4294	6496	SO:0001819	synonymous_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:354424C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1134G>A	16.37:g.354424C>T						AXIN1_ENST00000481769.1_5'UTR|AXIN1_ENST00000354866.3_Silent_p.P378P	p.P378P	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			5	1505	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	378			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	ENST00000262320.3	37	c.1134G>A	CCDS10405.1																																																																																				0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			3	37	0	0	0	1	0	3	37				
VCAM1	7412	broad.mit.edu	37	1	101188796	101188796	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:101188796G>T	ENST00000294728.2	+	3	662	c.561G>T	c.(559-561)gaG>gaT	p.E187D	VCAM1_ENST00000370119.4_Missense_Mutation_p.E125D|VCAM1_ENST00000370115.1_Missense_Mutation_p.E187D|VCAM1_ENST00000347652.2_Missense_Mutation_p.E187D	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	187	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGTCATTGAGGATATTGGAA	0.418																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(559-561)gaG>gaT		vascular cell adhesion molecule 1	Carvedilol(DB01136)						123.0	116.0	119.0					1																	101188796		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188796G>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.561G>T	1.37:g.101188796G>T	ENSP00000294728:p.Glu187Asp					VCAM1_ENST00000370119.4_Missense_Mutation_p.E125D|VCAM1_ENST00000347652.2_Missense_Mutation_p.E187D|VCAM1_ENST00000370115.1_Missense_Mutation_p.E187D	p.E187D	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	662	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	187			Ig-like C2-type 2.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.561G>T	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520615	0.27211	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.42	-4.04	0.04010	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.706955	0.13918	N	0.353776	T	0.29061	0.0722	M	0.81802	2.56	0.29062	N	0.88386	P;P;D	0.56746	0.942;0.955;0.977	P;P;D	0.65773	0.766;0.904;0.938	T	0.23691	-1.0181	10	0.21014	T	0.42	-16.8517	8.0585	0.30619	0.5435:0.0:0.3501:0.1064	.	125;187;187	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	D	125;187;187;187	ENSP00000359137:E125D;ENSP00000304611:E187D;ENSP00000294728:E187D;ENSP00000359133:E187D	ENSP00000294728:E187D	E	+	3	2	VCAM1	100961384	0.921000	0.31238	0.095000	0.20976	0.085000	0.17905	-0.169000	0.09911	-0.671000	0.05274	-1.937000	0.00501	GAG		0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		19	13	1	0	3.51602e-12	1	3.90668e-12	19	13				
CEPT1	10390	broad.mit.edu	37	1	111690383	111690383	+	Missense_Mutation	SNP	C	C	T	rs556306202		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:111690383C>T	ENST00000545121.1	+	2	255	c.47C>T	c.(46-48)cCg>cTg	p.P16L	CEPT1_ENST00000357172.4_Missense_Mutation_p.P16L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	16					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GATTCTCACCCGGAGTCCCCA	0.393																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(46-48)cCg>cTg		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						66.0	71.0	69.0					1																	111690383		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111690383C>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.47C>T	1.37:g.111690383C>T	ENSP00000441980:p.Pro16Leu					CEPT1_ENST00000357172.4_Missense_Mutation_p.P16L	p.P16L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	2	255	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	16					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.47C>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068359	0.20067	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.40225	1.04;1.04	4.68	1.69	0.24217	.	0.702655	0.14140	N	0.338800	T	0.09202	0.0227	N	0.12182	0.205	0.37694	D	0.92395	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09271	-1.0682	10	0.40728	T	0.16	-33.8871	5.5817	0.17252	0.1587:0.6649:0.0:0.1764	.	16;16	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	L	16	ENSP00000441980:P16L;ENSP00000349696:P16L	ENSP00000349696:P16L	P	+	2	0	CEPT1	111491906	0.927000	0.31430	0.996000	0.52242	0.983000	0.72400	0.354000	0.20146	0.267000	0.21916	-0.150000	0.13652	CCG		0.393	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		5	45	0	0	0	1	0	5	45				
TUBB1	81027	broad.mit.edu	37	20	57597953	57597953	+	Silent	SNP	C	C	T	rs150453159	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr20:57597953C>T	ENST00000217133.1	+	2	380	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	37					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAGCGACCGCGGGGCCTCGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		18152	0.0		0.002	False		,,,				2504	0.0					ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(109-111)cgC>cgT		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	C		0,4406		0,0,2203	63.0	58.0	59.0		111	-2.9	0.0	20	dbSNP_134	59	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	TUBB1	NM_030773.3		0,14,6489	TT,TC,CC		0.1628,0.0,0.1076		37/452	57597953	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57597953C>T	AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.111C>T	20.37:g.57597953C>T							p.R37R	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		2	380	+	all_lung(29;0.00711)		37						Silent	SNP	ENST00000217133.1	37	c.111C>T	CCDS13475.1																																																																																				0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		3	46	0	0	0	1	0	3	46				
ARHGAP29	9411	broad.mit.edu	37	1	94643557	94643560	+	Frame_Shift_Del	DEL	GTGA	GTGA	-			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr1:94643557_94643560delGTGA	ENST00000260526.6	-	21	2826_2829	c.2644_2647delTCAC	c.(2644-2649)tcacagfs	p.SQ882fs	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	882	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAGATCTTCTGTGAGTAAGTAATG	0.446																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2644-2649)agfs		Rho GTPase activating protein 29																																				SO:0001589	frameshift_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94643557_94643560delGTGA		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2644_2647delTCAC	1.37:g.94643557_94643560delGTGA	ENSP00000260526:p.Ser882fs					ARHGAP29_ENST00000482481.1_5'UTR	p.SQ882fs	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	21	2826_2829	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	882			Rho-GAP.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Frame_Shift_Del	DEL	ENST00000260526.6	37	c.2644_2647delTCAC	CCDS748.1																																																																																				0.446	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		20	85						20	85	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.G1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4122)aagcttfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801441_160801442insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4120dupA	2.37:g.160801449_160801449dupT	ENSP00000283243:p.Gly1374fs					PLA2R1_ENST00000460710.1_5'UTR	p.L1374fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325_4326	-			1374			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.4119_4120insA	CCDS33309.1																																																																																				0.401	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			7	118						7	118	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	8						4	8	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102104601	102104601	+	5'Flank	DEL	T	T	-	rs373775876		TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr10:102104601delT	ENST00000370355.2	+	0	0				RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AAAATCACAAttttttttttt	0.403																																					Colon(67;260 1459 9574 11663)	ENST00000429420.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr10:102104601delT	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906		10.37:g.102104601delT	Exception_encountered													0	103	-								B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	RNA	DEL	ENST00000370355.2	37		CCDS7493.1																																																																																				0.403	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		3	3						3	3	---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38420969	38420969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr17:38420969delC	ENST00000323571.4	+	5	781	c.541delC	c.(541-543)cccfs	p.P182fs	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000583130.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	182	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCCCCCACCACCCCCAGGGCG	0.647										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(541-543)ccfs		WAS/WASL interacting protein family, member 2							51.0	52.0	52.0					17																	38420969		2203	4300	6503	SO:0001589	frameshift_variant	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38420969delC	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.541delC	17.37:g.38420969delC	ENSP00000320924:p.Pro182fs	HNSCC(43;0.11)				WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000585043.1_Frame_Shift_Del_p.P182fs|WIPF2_ENST00000536600.1_Intron	p.P182fs	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	781	+			182			Poly-Pro.		A8K0L3|Q658J8|Q71RE1|Q8TE44	Frame_Shift_Del	DEL	ENST00000323571.4	37	c.541delC	CCDS11364.1																																																																																				0.647	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		10	62						10	62	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72775591	72775592	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A2CO-01A-11D-A19J-08	TCGA-EM-A2CO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31942ef-c251-4444-b743-3463827dc120	d4b5812a-ded5-47da-9681-0da4dac669c7	g.chr18:72775591_72775592insT	ENST00000299687.5	+	8	5914_5915	c.5914_5915insT	c.(5914-5916)attfs	p.I1972fs		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1972					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGCAGGAGATTTTAAACCTC	0.614																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5914-5916)tttfs		zinc finger protein 407																																				SO:0001589	frameshift_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775591_72775592insT	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5918dupT	18.37:g.72775595_72775595dupT	ENSP00000299687:p.Ile1972fs						p.F1972fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5914_5915	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1972					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Ins	INS	ENST00000299687.5	37	c.5914_5915insT	CCDS45885.1																																																																																				0.614	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		6	7						6	7	---	---	---	---
