#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
XPA	7507	broad.mit.edu	37	9	100459557	100459557	+	Silent	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr9:100459557C>T	ENST00000375128.4	-	1	82	c.18G>A	c.(16-18)ggG>ggA	p.G6G	AL445531.1_ENST00000582499.1_RNA	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	6	Interaction with CEP164 and required for UV resistance.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CCGGCAAAGCCCCGTCGGCCG	0.731			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group A"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(16-18)ggG>ggA	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A							12.0	16.0	15.0					9																	100459557		1863	3871	5734	SO:0001819	synonymous_variant	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100459557C>T	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.18G>A	9.37:g.100459557C>T							p.G6G	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			1	82	-		Acute lymphoblastic leukemia(62;0.158)	6			Interaction with CEP164 and required for UV resistance.		Q5T1U9|Q6LCW7|Q6LD02	Silent	SNP	ENST00000375128.4	37	c.18G>A	CCDS6729.1																																																																																				0.731	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		6	22	0	0	0	1	0	6	22				
LCE2B	26239	broad.mit.edu	37	1	152659435	152659435	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:152659435C>T	ENST00000368780.3	+	2	170	c.116C>T	c.(115-117)cCa>cTa	p.P39L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P39L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	39	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCAGCTCCATGTTCCCCT	0.622																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(115-117)cCa>cTa		late cornified envelope 2B							146.0	151.0	149.0					1																	152659435		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659435C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.116C>T	1.37:g.152659435C>T	ENSP00000357769:p.Pro39Leu					LCE2B_ENST00000417924.2_Missense_Mutation_p.P39L	p.P39L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	170	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		39			Cys-rich.|Pro-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.116C>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.323675	0.01309	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03607	3.87;3.87	2.11	-0.333	0.12671	.	.	.	.	.	T	0.00845	0.0028	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47586	-0.9106	9	0.87932	D	0	.	2.8171	0.05459	0.2664:0.5558:0.0:0.1779	.	39	O14633	LCE2B_HUMAN	L	39	ENSP00000414043:P39L;ENSP00000357769:P39L	ENSP00000357769:P39L	P	+	2	0	LCE2B	150926059	0.063000	0.20901	0.003000	0.11579	0.054000	0.15201	1.336000	0.33850	-0.245000	0.09625	0.313000	0.20887	CCA		0.622	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		8	175	0	0	0	1	0	8	175				
ZFHX3	463	broad.mit.edu	37	16	72831385	72831385	+	Silent	SNP	T	T	C			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:72831385T>C	ENST00000268489.5	-	9	5868	c.5196A>G	c.(5194-5196)caA>caG	p.Q1732Q	ZFHX3_ENST00000397992.5_Silent_p.Q818Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1732	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgttgttgttgctgttgct	0.537																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5194-5196)caA>caG		zinc finger homeobox 3							45.0	41.0	42.0					16																	72831385		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831385T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5196A>G	16.37:g.72831385T>C						ZFHX3_ENST00000397992.5_Silent_p.Q818Q	p.Q1732Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	5868	-		Ovarian(137;0.13)	1732			Poly-Gln.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.5196A>G	CCDS10908.1																																																																																				0.537	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	13	0	0	0	1	0	3	13				
KRT75	9119	broad.mit.edu	37	12	52822482	52822482	+	Nonsense_Mutation	SNP	G	G	A	rs151328629		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr12:52822482G>A	ENST00000252245.5	-	6	1301	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	361	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGGTGTTTCGAAGGTCATCC	0.532																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1081-1083)Cga>Tga		keratin 75		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	191.0	155.0	167.0		1081	5.4	1.0	12	dbSNP_134	167	8,8592	6.4+/-24.3	0,8,4292	yes	stop-gained	KRT75	NM_004693.2		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		361/552	52822482	9,12997	2203	4300	6503	SO:0001587	stop_gained	9119					keratin filament	structural molecule activity	g.chr12:52822482G>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1081C>T	12.37:g.52822482G>A	ENSP00000252245:p.Arg361*						p.R361*	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	6	1301	-			361			Coil 2.|Rod.		B4DQU4|Q9NSA9	Nonsense_Mutation	SNP	ENST00000252245.5	37	c.1081C>T	CCDS8827.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.845388	0.97016	2.27E-4	9.3E-4	ENSG00000170454	ENST00000252245	.	.	.	5.42	5.42	0.78866	.	0.000000	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4018	0.60887	0.0:0.0:0.7232:0.2768	.	.	.	.	X	361	.	ENSP00000252245:R361X	R	-	1	2	KRT75	51108749	0.778000	0.28640	1.000000	0.80357	0.563000	0.35712	4.027000	0.57239	2.544000	0.85801	0.561000	0.74099	CGA		0.532	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		7	43	0	0	0	1	0	7	43				
CIC	23152	broad.mit.edu	37	19	42791393	42791393	+	Splice_Site	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr19:42791393G>A	ENST00000575354.2	+	3	492		c.e3+1		CIC_ENST00000160740.3_Splice_Site|CIC_ENST00000572681.2_Splice_Site	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATGATGATGCGTGAGTTCCCT	0.647			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.e4+1		capicua transcriptional repressor							45.0	42.0	43.0					19																	42791393		2203	4300	6503	SO:0001630	splice_region_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791393G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.452+1G>A	19.37:g.42791393G>A						CIC_ENST00000575354.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site				Q96RK0	CIC_HUMAN			4	3247	+		Prostate(69;0.00682)						Q7LGI1|Q9UEG5|Q9Y6T1	Splice_Site	SNP	ENST00000575354.2	37		CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899055	0.72754	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9837	0.64321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIC	47483233	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.216000	0.72212	2.154000	0.67381	0.485000	0.47835	.		0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2		Intron	11	7	0	0	0	1	0	11	7				
POLK	51426	broad.mit.edu	37	5	74892057	74892057	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr5:74892057A>G	ENST00000241436.4	+	13	1711	c.1539A>G	c.(1537-1539)atA>atG	p.I513M	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.I315M|POLK_ENST00000508526.1_Missense_Mutation_p.I315M|POLK_ENST00000504026.1_Intron|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000380481.3_Missense_Mutation_p.I423M	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	513					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTGTTCGGATATCTAGTTTTC	0.378								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1537-1539)atA>atG	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							49.0	52.0	51.0					5																	74892057		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892057A>G	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1539A>G	5.37:g.74892057A>G	ENSP00000241436:p.Ile513Met					POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.I423M|POLK_ENST00000352007.5_Missense_Mutation_p.I315M|POLK_ENST00000508526.1_Missense_Mutation_p.I315M	p.I513M	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1711	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	513					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1539A>G	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347875	0.24426	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.58060	1.23;0.36;0.36;1.23	5.56	-7.82	0.01205	DNA polymerase IV/DinB homologue, little finger domain (1);DNA polymerase, Y-family, little finger domain (1);	0.599764	0.18880	N	0.128598	T	0.19208	0.0461	N	0.08118	0	0.24595	N	0.993801	B;B	0.26602	0.063;0.154	B;B	0.23852	0.022;0.049	T	0.13899	-1.0492	10	0.23891	T	0.37	-3.9572	4.3254	0.11038	0.2024:0.2921:0.4027:0.1028	.	315;513	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	M	513;315;315;423	ENSP00000241436:I513M;ENSP00000342256:I315M;ENSP00000426853:I315M;ENSP00000369848:I423M	ENSP00000241436:I513M	I	+	3	3	POLK	74927813	0.002000	0.14202	0.098000	0.21074	0.997000	0.91878	-1.345000	0.02637	-0.910000	0.03847	0.533000	0.62120	ATA		0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		7	28	0	0	0	1	0	7	28				
ACSM2B	348158	broad.mit.edu	37	16	20556560	20556560	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:20556560G>C	ENST00000329697.6	-	10	1368	c.1200C>G	c.(1198-1200)aaC>aaG	p.N400K	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.N321K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	400					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGGGCAGGACGTTGCCCTTAT	0.507																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1198-1200)aaC>aaG		acyl-CoA synthetase medium-chain family member 2B							116.0	96.0	103.0					16																	20556560		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556560G>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1200C>G	16.37:g.20556560G>C	ENSP00000327453:p.Asn400Lys					ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.N321K	p.N400K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			10	1368	-			400					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1200C>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	2.572	-0.299361	0.05532	.	.	ENSG00000066813	ENST00000329697	T	0.39787	1.06	3.38	-3.81	0.04294	AMP-dependent synthetase/ligase (1);	0.589296	0.15060	N	0.282819	T	0.27489	0.0675	L	0.28776	0.89	0.09310	N	1	B;B	0.27853	0.191;0.191	B;B	0.33339	0.162;0.162	T	0.19484	-1.0304	10	0.33141	T	0.24	-3.5136	9.1392	0.36892	0.5302:0.0:0.4698:0.0	.	400;400	A8K051;Q68CK6	.;ACS2B_HUMAN	K	400	ENSP00000327453:N400K	ENSP00000327453:N400K	N	-	3	2	ACSM2B	20464061	0.001000	0.12720	0.007000	0.13788	0.002000	0.02628	-0.106000	0.10890	-1.198000	0.02669	-0.332000	0.08345	AAC		0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		23	26	0	0	0	1	0	23	26				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	29	0	0	0	1	0	4	29				
PRMT1	3276	broad.mit.edu	37	19	50185264	50185264	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr19:50185264C>T	ENST00000391851.4	+	3	365	c.236C>T	c.(235-237)tCg>tTg	p.S79L	PRMT1_ENST00000454376.2_Missense_Mutation_p.S97L|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Missense_Mutation_p.S51L	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	87	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GACGTCGGCTCGGGCACCGGC	0.637																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(151-153)tCg>tTg		protein arginine methyltransferase 1							54.0	48.0	50.0					19																	50185264		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein methyltransferase activity	g.chr19:50185264C>T	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.236C>T	19.37:g.50185264C>T	ENSP00000375724:p.Ser79Leu					PRMT1_ENST00000454376.2_Missense_Mutation_p.S97L|PRMT1_ENST00000391851.4_Missense_Mutation_p.S79L	p.S51L			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	4	658	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	78					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	37	c.152C>T	CCDS42592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.03|17.03	3.284174|3.284174	0.59867|0.59867	.|.	.|.	ENSG00000126457|ENSG00000126457	ENST00000524771|ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000529836;ENST00000526224;ENST00000527412	.|T;T;T;T;T;T;T;T;T	.|0.25749	.|1.78;1.78;1.78;1.78;1.78;1.78;1.8;1.78;1.8	5.04|5.04	4.01|4.01	0.46588|0.46588	.|.	.|0.126699	.|0.49916	.|D	.|0.000135	T|T	0.47135|0.47135	0.1429|0.1429	M|M	0.86864|0.86864	2.845|2.845	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D;D;D	.|0.65815	.|0.995;0.995;0.994;0.994	.|P;P;P;P	.|0.59643	.|0.861;0.663;0.628;0.628	T|T	0.51694|0.51694	-0.8673|-0.8673	5|10	.|0.87932	.|D	.|0	-0.0644|-0.0644	7.0038|7.0038	0.24826|0.24826	0.0:0.7334:0.1747:0.0919|0.0:0.7334:0.1747:0.0919	.|.	.|87;51;79;73	.|Q99873;E9PKG1;G5E9B6;Q99873-2	.|ANM1_HUMAN;.;.;.	W|L	107|51;51;51;51;79;73;97;73;51;76	.|ENSP00000432349:S51L;ENSP00000433556:S51L;ENSP00000432538:S51L;ENSP00000431957:S51L;ENSP00000375724:S79L;ENSP00000406162:S97L;ENSP00000437273:S73L;ENSP00000432788:S51L;ENSP00000436732:S76L	.|ENSP00000375724:S79L	R|S	+|+	1|2	2|0	PRMT1|PRMT1	54877076|54877076	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.156000|0.156000	0.22039|0.22039	5.432000|5.432000	0.66514|0.66514	1.368000|1.368000	0.46115|0.46115	-0.148000|-0.148000	0.13756|0.13756	CGG|TCG		0.637	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		3	24	0	0	0	1	0	3	24				
SNHG14	104472715	broad.mit.edu	37	15	25488832	25488832	+	RNA	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr15:25488832C>T	ENST00000453082.2	+	0	2332				SNORD115-39_ENST00000363694.1_RNA|SNORD115-41_ENST00000363608.1_RNA|SNORD115-40_ENST00000606510.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		AATAGGATTACGCTGAGGCCC	0.498																																						ENST00000453082.2																			0																				380.0	401.0	395.0					15																	25488832		876	1989	2865			0							g.chr15:25488832C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25488832C>T						SNORD115-40_ENST00000606510.1_RNA		NR_003343.1						0	2332	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.498	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			4	295	0	0	0	1	0	4	295				
PRDM8	56978	broad.mit.edu	37	4	81122620	81122620	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr4:81122620A>T	ENST00000504452.1	+	7	1235	c.396A>T	c.(394-396)aaA>aaT	p.K132N	PRDM8_ENST00000339711.4_Missense_Mutation_p.K132N|PRDM8_ENST00000415738.2_Missense_Mutation_p.K132N			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	132					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GGTACGGGAAAGAACTGACTG	0.517											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(394-396)aaA>aaT		PR domain containing 8							71.0	75.0	74.0					4																	81122620		1942	4148	6090	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81122620A>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.396A>T	4.37:g.81122620A>T	ENSP00000423985:p.Lys132Asn		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Missense_Mutation_p.K132N|PRDM8_ENST00000504452.1_Missense_Mutation_p.K132N	p.K132N	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			9	1627	+			132			SET.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.396A>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461759	0.43736	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	5.98	3.55	0.40652	SET domain (1);	0.049163	0.85682	D	0.000000	T	0.74191	0.3684	N	0.04297	-0.235	0.52501	D	0.999951	D	0.57257	0.979	P	0.52554	0.702	T	0.72818	-0.4178	10	0.36615	T	0.2	.	7.6316	0.28243	0.6755:0.0:0.3245:0.0	.	132	Q9NQV8	PRDM8_HUMAN	N	132	ENSP00000423985:K132N;ENSP00000425149:K132N;ENSP00000339764:K132N;ENSP00000406998:K132N	ENSP00000339764:K132N	K	+	3	2	PRDM8	81341644	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	0.753000	0.26376	1.099000	0.41499	-0.353000	0.07706	AAA		0.517	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			12	40	0	0	0	1	0	12	40				
IGHV3-48	28424	broad.mit.edu	37	14	106994047	106994047	+	RNA	SNP	A	A	G			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr14:106994047A>G	ENST00000390624.2	-	0	196									immunoglobulin heavy variable 3-48																		GCTGCACAGGAGAGTCTCAGG	0.562																																						ENST00000390624.2																			0																				71.0	76.0	74.0					14																	106994047		1816	4060	5876			0							g.chr14:106994047A>G	M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106994047A>G														0	196	-									RNA	SNP	ENST00000390624.2	37																																																																																						0.562	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324605.1	NG_001019		61	91	0	0	0	1	0	61	91				
PHLPP2	23035	broad.mit.edu	37	16	71689222	71689222	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:71689222C>T	ENST00000568954.1	-	17	2884	c.2506G>A	c.(2506-2508)Gca>Aca	p.A836T	PHLPP2_ENST00000540628.1_Missense_Mutation_p.A46T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A871T|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A836T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.A836T|PHLPP2_ENST00000393524.2_Missense_Mutation_p.A769T			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	836	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGCACATCTGCCATCGTACAC	0.488																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2305-2307)Gca>Aca		PH domain and leucine rich repeat protein phosphatase 2							227.0	212.0	217.0					16																	71689222		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71689222C>T	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2506G>A	16.37:g.71689222C>T	ENSP00000457991:p.Ala836Thr					PHLPP2_ENST00000568954.1_Missense_Mutation_p.A836T|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000540628.1_Missense_Mutation_p.A46T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.A836T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A871T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A836T	p.A769T			Q6ZVD8	PHLP2_HUMAN			15	3038	-			836					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.2305G>A	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264389	0.80358	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.57	5.57	0.84162	Protein phosphatase 2C-like (3);	0.051283	0.85682	D	0.000000	T	0.20780	0.0500	L	0.31926	0.97	0.58432	D	0.999998	D;D	0.61080	0.989;0.989	P;P	0.62560	0.883;0.904	T	0.02505	-1.1149	10	0.20046	T	0.44	-14.0376	18.5413	0.91029	0.0:1.0:0.0:0.0	.	769;836	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	T	46;643;836;836;769	ENSP00000445781:A46T;ENSP00000353610:A836T;ENSP00000348611:A836T;ENSP00000377159:A769T	ENSP00000299971:A643T	A	-	1	0	PHLPP2	70246723	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.963000	0.63694	2.612000	0.88384	0.655000	0.94253	GCA		0.488	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		7	119	0	0	0	1	0	7	119				
UBR3	130507	broad.mit.edu	37	2	170937133	170937133	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:170937133C>T	ENST00000272793.5	+	38	5538	c.5488C>T	c.(5488-5490)Cgc>Tgc	p.R1830C	UBR3_ENST00000392631.1_Missense_Mutation_p.R651C|UBR3_ENST00000418381.1_Missense_Mutation_p.R1830C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1830					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCGAGGTCACCGCTTCTGCCT	0.398																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5488-5490)Cgc>Tgc		ubiquitin protein ligase E3 component n-recognin 3 (putative)							141.0	131.0	135.0					2																	170937133		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170937133C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5488C>T	2.37:g.170937133C>T	ENSP00000272793:p.Arg1830Cys					UBR3_ENST00000418381.1_Missense_Mutation_p.R1830C|UBR3_ENST00000392631.1_Missense_Mutation_p.R651C	p.R1830C			Q6ZT12	UBR3_HUMAN			38	5538	+			1830					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5488C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.236518	0.95240	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77678	0.4166	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.982	T	0.79692	-0.1697	10	0.51188	T	0.08	.	19.5215	0.95187	0.0:1.0:0.0:0.0	.	1830;651;1859	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	C	1830;1859;1830;651;530	ENSP00000272793:R1830C;ENSP00000396068:R1830C;ENSP00000376408:R651C;ENSP00000389097:R530C	ENSP00000272793:R1830C	R	+	1	0	UBR3	170645379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.484000	0.81180	2.585000	0.87301	0.650000	0.86243	CGC		0.398	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		22	22	0	0	0	1	0	22	22				
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																						ENST00000455308.2																			0																																																			0							g.chr18:15323276A>T																													18.37:g.15323276A>T								NR_027417.1						0	572	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			3	13	0	0	0	1	0	3	13				
ZNF407	55628	broad.mit.edu	37	18	72343568	72343568	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr18:72343568G>T	ENST00000299687.5	+	1	593	c.593G>T	c.(592-594)tGc>tTc	p.C198F	ZNF407_ENST00000309902.6_Missense_Mutation_p.C198F|ZNF407_ENST00000582337.1_Missense_Mutation_p.C198F|ZNF407_ENST00000577538.1_Missense_Mutation_p.C198F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	198					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)		TTTTCTTCTTGCTCTGACTTG	0.448																																						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.(592-594)tGc>tTc		zinc finger protein 407							176.0	180.0	179.0					18																	72343568		2023	4173	6196	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343568G>T	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.593G>T	18.37:g.72343568G>T	ENSP00000299687:p.Cys198Phe					ZNF407_ENST00000577538.1_Missense_Mutation_p.C198F|ZNF407_ENST00000309902.6_Missense_Mutation_p.C198F|ZNF407_ENST00000582337.1_Missense_Mutation_p.C198F	p.C198F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	593	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	198					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.593G>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827142	0.50739	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.14391	2.51;2.51	5.63	3.75	0.43078	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	1.491420	0.05951	U	0.638883	T	0.25680	0.0625	L	0.45285	1.41	0.09310	N	0.999999	D;D;P	0.56746	0.977;0.96;0.933	P;P;P	0.56216	0.794;0.657;0.456	T	0.19647	-1.0299	10	0.59425	D	0.04	.	10.118	0.42603	0.0:0.2625:0.5816:0.1559	.	198;198;198	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	F	198	ENSP00000299687:C198F;ENSP00000310359:C198F	ENSP00000299687:C198F	C	+	2	0	ZNF407	70472556	0.005000	0.15991	0.162000	0.22713	0.970000	0.65996	0.727000	0.25999	1.445000	0.47624	0.655000	0.94253	TGC		0.448	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		10	140	1	0	0.00621372	1	0.00640201	10	140				
PKP1	5317	broad.mit.edu	37	1	201291189	201291189	+	Silent	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:201291189G>A	ENST00000352845.3	+	9	1494	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	PKP1_ENST00000367324.3_Silent_p.E477E|PKP1_ENST00000263946.3_Silent_p.E498E			Q13835	PKP1_HUMAN	plakophilin 1	498					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCCAGCTGGAGTATAACGCCC	0.607																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(1492-1494)gaG>gaA		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							120.0	95.0	104.0					1																	201291189		2203	4300	6503	SO:0001819	synonymous_variant	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201291189G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1494G>A	1.37:g.201291189G>A						PKP1_ENST00000367324.3_Silent_p.E477E|PKP1_ENST00000352845.3_Silent_p.E498E	p.E498E	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			9	1745	+			498					O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	c.1494G>A	CCDS30966.1																																																																																				0.607	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		6	19	0	0	0	1	0	6	19				
DHX29	54505	broad.mit.edu	37	5	54577289	54577289	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr5:54577289T>C	ENST00000251636.5	-	12	2168	c.2020A>G	c.(2020-2022)Agg>Ggg	p.R674G	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	674	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TAGAGTAACCTGGTAGATTCA	0.388																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(2020-2022)Agg>Ggg		DEAH (Asp-Glu-Ala-His) box polypeptide 29							105.0	97.0	100.0					5																	54577289		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54577289T>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2020A>G	5.37:g.54577289T>C	ENSP00000251636:p.Arg674Gly					RP11-506H20.1_ENST00000506435.1_RNA	p.R674G	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			12	2168	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	674			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.2020A>G	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005233	0.74932	.	.	ENSG00000067248	ENST00000251636	T	0.07688	3.17	5.52	1.49	0.22878	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.041350	0.85682	D	0.000000	T	0.37999	0.1024	H	0.95043	3.615	0.51012	D	0.999907	D	0.89917	1.0	D	0.81914	0.995	T	0.53315	-0.8456	10	0.87932	D	0	.	13.3321	0.60495	0.0:0.0:0.3739:0.6261	.	674	Q7Z478	DHX29_HUMAN	G	674	ENSP00000251636:R674G	ENSP00000251636:R674G	R	-	1	2	DHX29	54613046	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	2.098000	0.41757	0.065000	0.16485	0.533000	0.62120	AGG		0.388	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		11	33	0	0	0	1	0	11	33				
LMNA	4000	broad.mit.edu	37	1	156105907	156105907	+	Silent	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:156105907G>A	ENST00000368300.4	+	6	1364	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	LMNA_ENST00000392353.3_Silent_p.E303E|LMNA_ENST00000347559.2_Silent_p.E384E|LMNA_ENST00000473598.2_Silent_p.E285E|LMNA_ENST00000448611.2_Silent_p.E272E|LMNA_ENST00000368297.1_Silent_p.E303E|LMNA_ENST00000368301.2_Silent_p.E384E|LMNA_ENST00000361308.4_Silent_p.E384E|LMNA_ENST00000368299.3_Silent_p.E384E|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	384	Tail.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGGCGAGGAGGAGAGGTGGG	0.642									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(1150-1152)gaG>gaA		lamin A/C							50.0	43.0	45.0					1																	156105907		2203	4300	6503	SO:0001819	synonymous_variant	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156105907G>A	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1152G>A	1.37:g.156105907G>A						LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Silent_p.E303E|LMNA_ENST00000473598.2_Silent_p.E285E|LMNA_ENST00000448611.2_Silent_p.E272E|LMNA_ENST00000392353.3_Silent_p.E303E|LMNA_ENST00000368299.3_Silent_p.E384E|LMNA_ENST00000368301.2_Silent_p.E384E|LMNA_ENST00000361308.4_Silent_p.E384E|LMNA_ENST00000347559.2_Silent_p.E384E	p.E384E	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			6	1364	+	Hepatocellular(266;0.158)		384			Tail.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	c.1152G>A	CCDS1129.1																																																																																				0.642	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		8	21	0	0	0	1	0	8	21				
APOB	338	broad.mit.edu	37	2	21245798	21245798	+	Silent	SNP	G	G	A	rs72653068		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:21245798G>A	ENST00000233242.1	-	18	2848	c.2721C>T	c.(2719-2721)caC>caT	p.H907H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	907	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCCGACTCGTGGAAGAAGT	0.507																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(2719-2721)caC>caT		apolipoprotein B	Atorvastatin(DB01076)						89.0	83.0	85.0					2																	21245798		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21245798G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2721C>T	2.37:g.21245798G>A							p.H907H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			18	2848	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		907			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.2721C>T	CCDS1703.1																																																																																				0.507	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			8	15	0	0	0	1	0	8	15				
IRAK2	3656	broad.mit.edu	37	3	10255186	10255186	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr3:10255186G>T	ENST00000256458.4	+	6	832	c.742G>T	c.(742-744)Gga>Tga	p.G248*		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TTCAAGTCCAGGATCAATCGA	0.463																																						ENST00000256458.4																			0				breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						c.(742-744)Gga>Tga		interleukin-1 receptor-associated kinase 2							124.0	119.0	121.0					3																	10255186		2203	4300	6503	SO:0001587	stop_gained	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10255186G>T	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.742G>T	3.37:g.10255186G>T	ENSP00000256458:p.Gly248*						p.G248*	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN			6	832	+			248			Protein kinase.		B4DQZ6|Q08AG6|Q5K546	Nonsense_Mutation	SNP	ENST00000256458.4	37	c.742G>T	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048556	0.93740	.	.	ENSG00000134070	ENST00000256458	.	.	.	5.66	1.71	0.24356	.	0.927576	0.09119	N	0.845974	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-5.2581	4.2502	0.10691	0.2723:0.1695:0.5582:0.0	.	.	.	.	X	248	.	ENSP00000256458:G248X	G	+	1	0	IRAK2	10230186	0.000000	0.05858	0.002000	0.10522	0.277000	0.26821	0.396000	0.20867	0.859000	0.35456	0.655000	0.94253	GGA		0.463	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1			7	55	1	0	8.12818e-05	1	8.91478e-05	7	55				
WDR90	197335	broad.mit.edu	37	16	705148	705148	+	Splice_Site	SNP	G	G	A			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:705148G>A	ENST00000293879.4	+	14	1556		c.e14+1		WDR90_ENST00000549091.1_Splice_Site|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATGAAACCAGGTGATGCAGCC	0.657																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.e14+1		WD repeat domain 90							48.0	54.0	52.0					16																	705148		2034	4169	6203	SO:0001630	splice_region_variant	197335							g.chr16:705148G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1556+1G>A	16.37:g.705148G>A						WDR90_ENST00000293879.4_Splice_Site|LA16c-349E10.1_ENST00000573609.1_RNA		NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			14	1648	+		Hepatocellular(780;0.0218)						Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Splice_Site	SNP	ENST00000293879.4	37		CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098584	0.37048	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3368	0.83067	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR90	645149	1.000000	0.71417	0.993000	0.49108	0.402000	0.30811	9.264000	0.95635	2.098000	0.63641	0.561000	0.74099	.		0.657	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	Intron	7	48	0	0	0	1	0	7	48				
SI	6476	broad.mit.edu	37	3	164781241	164781241	+	Missense_Mutation	SNP	C	C	T	rs367672931		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr3:164781241C>T	ENST00000264382.3	-	8	958	c.896G>A	c.(895-897)aGc>aAc	p.S299N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	299	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CATTGCATTGCTATTCATTAA	0.264										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(895-897)aGc>aAc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)	C	ASN/SER	0,4350		0,0,2175	41.0	49.0	46.0		896	5.2	1.0	3		46	1,8471		0,1,4235	no	missense	SI	NM_001041.3	46	0,1,6410	TT,TC,CC		0.0118,0.0,0.0078	possibly-damaging	299/1828	164781241	1,12821	2175	4236	6411	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164781241C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.896G>A	3.37:g.164781241C>T	ENSP00000264382:p.Ser299Asn	HNSCC(35;0.089)					p.S299N	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			8	958	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	299			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.896G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304091	0.81136	0.0	1.18E-4	ENSG00000090402	ENST00000264382	D	0.87256	-2.23	5.2	5.2	0.72013	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94066	0.8098	H	0.98951	4.38	0.54753	D	0.999985	D	0.53312	0.959	P	0.45660	0.489	D	0.96444	0.9329	10	0.72032	D	0.01	.	18.7427	0.91780	0.0:1.0:0.0:0.0	.	299	P14410	SUIS_HUMAN	N	299	ENSP00000264382:S299N	ENSP00000264382:S299N	S	-	2	0	SI	166263935	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.010000	0.76353	2.441000	0.82636	0.585000	0.79938	AGC		0.264	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	56	0	0	0	1	0	17	56				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	37	0	0	0	1	0	25	37				
MPV17L	255027	broad.mit.edu	37	16	15501855	15501855	+	Silent	SNP	C	C	G			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:15501855C>G	ENST00000396385.3	+	4	596	c.477C>G	c.(475-477)ctC>ctG	p.L159L	MPV17L_ENST00000287594.7_Missense_Mutation_p.L136V|RP11-1021N1.1_ENST00000568222.1_Intron	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	159					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						GTGGTTTTCTCTGGGCCACCT	0.502																																						ENST00000287594.6																			0				kidney(2)|large_intestine(1)|skin(1)	4						c.(406-408)Ctg>Gtg		MPV17 mitochondrial membrane protein-like							65.0	57.0	60.0					16																	15501855		2197	4300	6497	SO:0001819	synonymous_variant	255027					integral to membrane|peroxisomal membrane		g.chr16:15501855C>G	DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.477C>G	16.37:g.15501855C>G						RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000396385.3_Silent_p.L159L	p.L136V	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN			3	550	+			0					B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	ENST00000396385.3	37	c.406C>G	CCDS45421.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.356176	0.41700	.	.	ENSG00000156968	ENST00000287594	D	0.93076	-3.16	5.29	2.22	0.28083	.	0.435897	0.19479	U	0.113245	D	0.87958	0.6309	.	.	.	0.80722	D	1	B	0.24043	0.096	B	0.25884	0.064	T	0.78540	-0.2165	9	0.23302	T	0.38	-9.8577	10.4531	0.44535	0.0:0.758:0.1561:0.0859	.	136	Q2QL34-2	.	V	136	ENSP00000287594:L136V	ENSP00000287594:L136V	L	+	1	2	MPV17L	15409356	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	0.925000	0.28791	0.217000	0.20800	-0.373000	0.07131	CTG		0.502	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803		3	60	0	0	0	1	0	3	60				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	24	0	0	0	1	0	3	24				
ACTG1	71	broad.mit.edu	37	17	79478121	79478121	+	Silent	SNP	G	G	A	rs376841359		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr17:79478121G>A	ENST00000575842.1	-	4	1242	c.816C>T	c.(814-816)tgC>tgT	p.C272C	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Silent_p.C272C|ACTG1_ENST00000573283.1_Silent_p.C272C|ACTG1_ENST00000331925.2_Silent_p.C272C|RP13-766D20.2_ENST00000430912.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	272					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTGGATGCCGCAAGATTCCA	0.542													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22344	0.0		0.0	False		,,,				2504	0.0					ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(814-816)tgC>tgT		actin, gamma 1		G	,	1,4405	2.1+/-5.4	0,1,2202	88.0	78.0	82.0		816,816	-8.2	0.0	17		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACTG1	NM_001199954.1,NM_001614.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	272/376,272/376	79478121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478121G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.816C>T	17.37:g.79478121G>A						ACTG1_ENST00000575087.1_Silent_p.C272C|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Silent_p.C272C|ACTG1_ENST00000573283.1_Silent_p.C272C	p.C272C			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		4	1242	-	all_neural(118;0.0878)|Melanoma(429;0.242)		272					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	c.816C>T	CCDS11782.1																																																																																				0.542	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		4	79	0	0	0	1	0	4	79				
FUBP1	8880	broad.mit.edu	37	1	78444659	78444659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:78444659delG	ENST00000370768.2	-	1	111	c.30delC	c.(28-30)cccfs	p.P10fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.P10fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.P10fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	10					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGCCAGAAGAGGGGGGAGGCA	0.557			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(28-30)ccfs		far upstream element (FUSE) binding protein 1							37.0	42.0	40.0					1																	78444659		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78444659delG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.30delC	1.37:g.78444659delG	ENSP00000359804:p.Pro10fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.P10fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.P10fs	p.P10fs			Q96AE4	FUBP1_HUMAN			1	117	-			10					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.30delC	CCDS683.1																																																																																				0.557	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		9	12						9	12	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		4	5						4	5	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		2	4						2	4	---	---	---	---
NELFCD	51497	broad.mit.edu	37	20	57556343	57556343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr20:57556343delG	ENST00000344018.3	+	1	33	c.6delG	c.(4-6)gcgfs	p.A2fs	NELFCD_ENST00000602795.1_Frame_Shift_Del_p.A11fs			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	2					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											AGGGCATGGCGGGGGCCGTGC	0.821																																						ENST00000602795.1																			0											c.(31-33)gcfs		negative elongation factor complex member C/D				20,10,2976		3,0,14,1,8,1477	3.0	6.0	5.0			2.4	0.1	20		5	57,14,6421		5,0,47,3,8,3183	no	codingComplex	TH1L	NM_198976.1		8,0,61,4,16,4660	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0937,0.998,1.0634			57556343	77,24,9397	1747	3680	5427	SO:0001589	frameshift_variant	51497							g.chr20:57556343delG	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.6delG	20.37:g.57556343delG	ENSP00000342300:p.Ala2fs					NELFCD_ENST00000344018.3_Frame_Shift_Del_p.A2fs	p.A11fs							1	81	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Frame_Shift_Del	DEL	ENST00000344018.3	37	c.33delG																																																																																					0.821	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		2	4						2	4	---	---	---	---
